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2021| March-April | Volume 24 | Issue 2
Online since
April 28, 2021
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EDITORIAL
Impact of COVID-19 pandemic on parkinson's disease: A tale of fears and sorrows!
Niraj Kumar, Ravi Gupta
March-April 2021, 24(2):121-123
DOI
:10.4103/aian.AIAN_97_21
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4,279
218
ORIGINAL ARTICLES
Clinical profile and treatment response in patients with CASPR2 antibody-associated neurological disease
Sumanth Shivaram, Madhu Nagappa, Doniparthi V Seshagiri, Anita Mahadevan, Yashwanth Gangadhar, TN Sathyaprabha, Vijay Kumavat, Rose D Bharath, Sanjib Sinha, Arun B Taly
March-April 2021, 24(2):178-185
DOI
:10.4103/aian.AIAN_574_20
Background:
The clinical spectrum of contactin-associated protein-like 2 (CASPR2) antibody-associated disease is wide and includes Morvan syndrome. Studies describing treatment and long-term outcome are limited.
Aims:
We report the clinical profile and emphasize response to treatment and long-term outcome in eight patients with CASPR2-antibody-associated disease.
Methods:
Clinical, radiological, electrophysiological, treatment, follow-up, and outcome data were collected by retrospective chart review.
Results:
Clinical manifestations included Morvan syndrome (
n
= 7) and limbic encephalitis (
n
= 1). None of the patients were positive for LGI1 antibody. Associated features included myasthenia (
n
= 1), thymoma (
n
= 1), and dermatological manifestations (
n
= 4). Patients were treated with intravenous methylprednisolone and plasma exchange during the acute symptomatic phase followed by pulsed intravenous methyl prednisolone to maintain remission. Mean-modified Rankin score at admission (pre-treatment), discharge, and last follow-up were 3.75, 2.5, and 0.42, respectively. One patient with underlying thymoma and myasthenic crisis died. The other seven patients were followed up for a mean duration of 19.71 months. All of them improved completely. Relapse occurred in one patient after 13 months but responded favorably to steroids.
Conclusion:
CASPR2 antibody-associated disease has favorable response to immunotherapy with complete improvement and good outcome. Underlying malignancy may be a marker for poor prognosis.
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EDITORIAL COMMENTARY
Brainstem evoked potentials in the idiopathic parkinson's disease (PD)
Ajay Kumar Vats
March-April 2021, 24(2):128-129
DOI
:10.4103/aian.AIAN_1254_20
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LETTERS TO THE EDITOR
Neurolymphomatosis as a presenting feature of primary testicular lymphoma
Tushar P Raut, Mohit Bhatt, Meenal Hastak, Imran N Shaikh, Darshana Sanghvi, Nikhil Rabade, Hemant Khandare, Kiran Ghodke, Saud Shaikh, Gopal Gholap
March-April 2021, 24(2):269-272
DOI
:10.4103/aian.AIAN_304_20
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Type 1 primary cutaneous meningioma with atretic meningocele
Bharat Pillai, Mikki Sapkota, Umar Farooque, Fahham Asghar, Adam Perez, Laszlo Mechtler
March-April 2021, 24(2):278-280
DOI
:10.4103/aian.AIAN_394_20
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Subgroup classification of myasthenia gravis
Pushpendra N Renjen
March-April 2021, 24(2):300-300
DOI
:10.4103/aian.AIAN_237_20
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ORIGINAL ARTICLES
The impact of COVID-19 pandemic on disease severity and quality of life in parkinson's disease
Alvee Saluja, Jasmine Parihar, Divyani Garg, Rajinder K Dhamija
March-April 2021, 24(2):217-226
DOI
:10.4103/aian.AIAN_1240_20
Background:
The challenges being faced during the lockdown period may worsen motor or non-motor symptoms in Parkinson's disease (PD).
Objective:
This study was undertaken to investigate the impact of lockdown on the disease activity, caregiver perceptions and the quality of life of patients with PD.
Materials and Methods:
This cross-sectional study was conducted from June till September 2020. Sixty-four patients with PD and caregivers were interviewed telephonically after obtaining consent. The responses were recorded by means of a structured questionnaire. Non-motor symptoms scale (NMSS) and the Parkinson Disease Questinnaire-8 (PDQ-8) were applied. PDQ-8 severity index (PDQ-8 SI) scores were expressed as percentage of the raw PDQ-8 score of the total score. Data were analsyed by using SPSS version 20.0.
Results:
Of 64 patients, 39 (60.9%) were men and 25 (39.1%) were women. The overall median age of the patients was 65 (55.25–69.75) years. The median duration was 48 (30–84) months. Twenty-six (40.6%) patients reported symptomatic worsening during the lockdown period. Slowness in activities of daily living and walking worsened in 15 (57.7%) and 14 (53.8%) patients, respectively, while tremors increased in 12 (46.2%) patients. Mood and sleep disturbances were the most common non-motor symptoms to worsen. Increase in non-motor symptoms and the NMSS total score were independent predictors of PDQ-8 scores. Increase in non-motor symptoms during the lockdown was an independent predictor of the highest quartile of PDQ-8 SI scores.
Conclusions:
Motor and non-motor symptoms have worsened in patients with PD during the lockdown. The increase in non-motor symptoms was independently associated with poorer quality of life among patients with PD during the lockdown.
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Do imaging markers of cerebral small vessel disease predict hematoma volume and outcome in acute intracerebral hemorrhage?
Anand R Warrier, Rohit Bhatia, Ajay Garg, MV Padma Srivastava, Deepa Dash, Manjari Tripathi, Mamta Bhushan Singh, Vishwajeet Singh, Sreenivas Vishnubhatla, Kameshwar Prasad
March-April 2021, 24(2):204-210
DOI
:10.4103/aian.AIAN_183_20
Background and Purpose:
Cerebral small vessel disease (CSVD) markers have not been widely studied in relation to hematoma volume and growth in hypertensive intracerebral hemorrhage (ICH). The objectives to assess the relationship of white matter hyperintense lesions (WMHL), microbleeds (MBs), and cortical siderosis (CSS) with hematoma volume, hematoma expansion (HE), and 3 months outcome in patients with hypertensive ICH.
Methods:
All consecutive acute hypertensive supratentorial ICH presenting to the emergency were prospectively recruited. Baseline and 24 hours computed tomography (CT) to assess hematoma volume and magnetic resonance imaging (MRI) for CSVD markers were performed in all subjects. WMHL (graded using Fazekas's scale), MBs, and CSS were assessed and compared with baseline variables and outcomes. All the images were assessed by an experienced stroke neurologist/neuroradiologist.
Results:
One hundred and fifty-seven patients were screened and 60 were included. Mean age was 54.08 ± 11.57 years and 47 (78%) were males. Of 60, 19 (28.1%) had HE, 31 (51.6%) had major bleed (>30 ml), and 28 (47.46%) had poor 3 month outcome (mRS 4-6). On univariate analysis, high grade WMHL was associated with greater HE [odds ratio (OR): 2.65, confidence interval (CI) 1.48–4.72,
P
= 0.001), greater proportion with volume >30 ml (OR: 7.16, CI: 1.09–47.13,
P
= 0.001) and poor outcome (OR: 2.1, CI: 0.05–3.27,
P
= 0.001). MBs were associated with poor outcome (
P
= 0.029) but not with HE/volume. CSS was related to HE (
P
= 0.031), a large volume bleed (P = 0.023), and poor outcome (
P
= 0.021). On multivariate model, only WMHL independently predicted HE (
P
= 0.034), greater proportion with bleed volume >30 ml (
P
= 0.041), and poor outcome (P = 0.042).
Conclusions:
WMHL in MRI serves as a predictor of hematoma expansion, a large volume bleed, and poor outcome in hypertensive ICH and may be incorporated into existing prediction models.
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VIEW POINT
Consensus statement on neurorehabilitation during COVID-19 times: Expert group on behalf of the Indian Federation of Neurorehabilitation (IFNR)
Rajinder K Dhamija, Abhishek Srivastava, Sonal Chauhan, Urvashi Shah, Taral Nagda, Deepak Palande, Sonal Chitnis, PS Dantala, John M Solomon, S Murali Krishnan, Hitav Someshwar, Nirmal Surya
March-April 2021, 24(2):138-141
DOI
:10.4103/aian.AIAN_997_20
The COVID19 pandemic in India is causing significant morbidity and disruptions of healthcare delivery. The rapidly escalating contagion is straining our public health system, which is already under pressure due to a shortage of infrastructure and inadequate workforce. Neuro rehabilitation services that are still in its infancy in our country have been significantly interrupted in the last six months. An expert group from Indian Federation of Neurorehabilitation (IFNR) have formulated the guidelines and consensus recommendations for Neurologists, Physiatrists, and Therapists managing neurological disabilities during COVID 19. The aim of this consensus paper is to sensitize the clinicians and therapists about maintaining the continuum of care and rehabilitation needs of Covid patients as well as non Covid patients with neurological disorders during the ongoing COVID 19 pandemic
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AIAN REVIEW
Psychogenic nonepileptic seizures and psychosocial management: A narrative review
Nisha Phakey, Karishma Godara, Divyani Garg, Suvasini Sharma
March-April 2021, 24(2):146-154
DOI
:10.4103/aian.AIAN_884_20
Psychogenic non-epileptic seizure (PNES) is a common disorder that imitates epileptic seizures and has its etiological roots in psychological distress. Due to its “epileptic” similarity, it is often dealt with not only by mental health professionals but also by physicians, pediatricians and neurologists. There is a growing consensus towards the psychotherapeutic treatment of the disorder, albeit a lack of clarity in choosing a gold-standard approach. This paper seeks to serve as a compendium of different psychotherapeutic approaches and their efficacy in the management of PNES. The paper employed the search strategy by selecting the keywords: “Psychogenic Non-Epileptic Seizures (PNES) and psychosocial management”, “PNES Treatment approach”, “PNES and psychotherapy” in PUBMED, EBSCO host, PsycINFO, and SCOPUS database. Eventually, specific therapies were cross-searched with PNES for an exhaustive review. Several studies were found employing various psychotherapeutic approaches for the treatment of PNES in pilot studies, randomized controlled, or open uncontrolled trials. Cognitive Behavior Therapy was demonstrated as an efficacious treatment for PNES in a randomized controlled trial (RCT). Other approaches that were effective in ameliorating the symptoms were psychodynamic therapies or psychoeducation based group therapies. Some therapies like Novel Integrative psychotherapy, Eye Movement Desensitisation Therapy and Mindfulness-based therapies require further exploration in larger clinical trials. The findings demonstrate that psychological intervention for PNES is a promising alternative treatment approach with a need for more RCTs with a larger sample and robust methodology for better generalization.
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4,442
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Optimal dosing of lasmiditan in the management of acute migraine attack: A systematic review and meta-analysis
Roopa Satyanarayan Basutkar, Chris Elizabeth Vinod, Shruthi Jaya Saju, Bhavya Chebrolu, Sivasankaran Ponnusankar
March-April 2021, 24(2):155-163
DOI
:10.4103/aian.AIAN_1223_20
Background:
The current target of migraine treatment is focused on Triptans. Lasmiditan, a non-vasoconstrictive and highly selective 5HT
1F
receptor agonist is a novel therapeutic discovery for migraine for patients with cardiovascular (CV) risk factors or stable cardiovascular diseases and who fail to respond to the existing treatment.
Objective:
To identify an optimal dosing of Lasmiditan 100 mg versus 200 mg for the treatment of acute migraine attacks in adult patients with cardiovascular risk factors.
Methods:
Systematic searches were run in databases such as Cochrane Central Register of Controlled Trials (CENTRAL), Scopus, Google scholar, and PUBMED. Out of 83 study records identified, two studies were included for quantitative analysis.
Results:
There was a significant headache pain freedom at 2 h [Odds Ratio (OR): 0.77; 95% Confidence interval (CI): 0.64–0.92] and sustained pain freedom at 24 h (OR): 0.75; 95% CI: 0.61–0.93] in patients taking Lasmiditan 200 mg compared to those taking Lasmiditan 100 mg. The results were statistically insignificant for parameters like most bothersome symptoms (MBS) free at 2 h, headache relief at 2 h, disability level at 2 h, and global impression of change at 2 h. A combined analysis of these parameters showed a remarkable difference between both the groups favoring Lasmiditan 200 mg [OR: 0.88; 95% CI: 0.81–0.95].
Conclusion:
An oral dosing of Lasmiditan 200 mg is ideal for the treatment of acute migraine in adult patients with CV risk factors for attaining headache pain freedom at 2 h and sustained pain freedom at 24 compared to Lasmiditan 100 mg.
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Stem cell therapy in ischemic stroke: A systematic review and meta-analysis of randomized controlled trials
Amit Kumar, Dimple Rawat, Kameshwar Prasad
March-April 2021, 24(2):164-172
DOI
:10.4103/aian.AIAN_384_20
Background and Objective:
Stem cell therapy has emerged as a potential therapy for the treatment of stroke. We performed a systematic review and meta-analysis of published randomized controlled studies using various types of stem cell therapies in patients with ischemic stroke (IS).
Method:
Literature search was carried out using PubMed, Google Scholar, Cochrane library, and clinicaltrial.gov to identify studies on stem cell therapy in IS from its inception till January 2020. Data were extracted independently by two reviewers. STATA version 13 was used for carrying out meta- analysis. We included only randomized controlled trials (RCTs) if any of the stem cell therapy was used to treat patients with IS in any phase after the index stroke.
Results:
We included a total of eight randomized controlled studies involving 459 subjects (217 intervention and 242 controls) in the meta-analysis. We did not observe statistically significant reduction in mean NIHSS score in the intervention group (SMD - 0.34, 95% CI - 0.76 to 0.08) in patients with acute or sub-acute stroke. However, a statistically significant reduction (SMD - 1.57, 95% CI -2.22 to -0.92) was observed in patients with chronic ischemic stroke. Statistically non-significant reduction in mean mRS in the intervention group (SMD 0.04, 95% CI -0.20 to 0.28) in patients with acute or sub-acute ischemic stroke was observed, however a statistically significant reduction (SMD - 1.07, 95% CI - 1.94 to -0.19) was noted in patients with chronic stroke. We did not observe statistically significant reduction in mean Barthel index score (SMD 0.24, 95%CI -1.69 to 2.17) in chronic stroke. Statistically non-significant lower mortality rate was observed in intervention group compared to controls (Risk Ratio 0.84, 95% CI 0.43 to 1.66) among acute or sub-acute, as well as in the chronic stroke group (Risk Ratio 0.47, 95% CI 0.20 to 1.09).
Conclusion:
Our meta-analysis provides no clinically important evidence for efficacy of stem cells in reducing neurological deficit compared to control group. Well-designed large randomized controlled trials are required to provide more information on the efficacy of stem cell therapy in patients with IS.
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CASE REPORT
Unabridged histoplasmosis myositis: Unsolved dissemination with diagnostic challenge
Gurparvesh S Goraya, Guneet Sidhu, Updesh Sidhu, Birinder S Paul, Gunchan Paul
March-April 2021, 24(2):239-242
DOI
:10.4103/aian.AIAN_511_20
Histoplasmosis occurs predominantly in immunocompromised hosts and typically presents with mild constitutional symptoms, weight loss, weakness, fatigability, hepatosplenomegaly, and lymphadenopathy. The diagnosis is generally delayed and is based upon isolating the organism in blood cultures or by identifying intracellular organisms in tissues. Disseminated Histoplasmosis is well described in HIV patients but Histoplasmosis myositis is a rare manifestation and has not been reported in seronegative patients till date. We here address a case of a pharmacologically immunosuppressed patient with extensive Histoplasmosis myositis invading almost all the skeletal muscles of body (including plantar foot muscles) with no evidence of dissemination to other organ-systems. Clinical examination and investigations co-related with infiltrative muscle disease and skeletal muscle biopsy revealed
Histoplasma capsulatum
. This patient illustrates a distinctive clinical presentation of fungal infection with subtle constitutional symptoms and isolated muscle weakness which added to the diagnostic challenge. Hence, differential diagnosis of fungal infection must always be considered as a cause of myopathy in any pharmacologically immunosuppressed patient.
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2,541
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EDITORIAL COMMENTARY
Vitamin D and cerebrovascular disease
Rita Christopher, Vijaya Majumdar, D Nagaraja
March-April 2021, 24(2):130-131
DOI
:10.4103/aian.AIAN_1207_20
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Audio-vestibular pathways dysfunction and testing in parkinson's disease
Sudhir Kothari
March-April 2021, 24(2):124-125
DOI
:10.4103/aian.AIAN_70_21
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Lasmiditan: A new promising drug in migraine
Sanjay Prakash, Kaushik Rana
March-April 2021, 24(2):126-127
DOI
:10.4103/aian.AIAN_30_21
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2,674
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IMAGES IN NEUROLOGY
Imaging findings in
TRPM6
-Related hypomagnesemia with secondary hypocalcemia
Prateek Malik, Sayli Umakant Bidkar, Sangeetha Yoganathan, Sarah Mathai, Sumita Danda, Beena Koshy
March-April 2021, 24(2):247-248
DOI
:10.4103/aian.AIAN_243_20
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1,039
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The potpourri of clinical signs in tuberous sclerosis complex
Atul Arora, Vipin Rana, Krinjeela Bazgain
March-April 2021, 24(2):249-250
DOI
:10.4103/aian.AIAN_590_20
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3,050
88
Leigh syndrome and SURF1 gene presenting with febrile seizure
Prateek Kumar Panda, Indar Kumar Sharawat, Vishakha Sharma, Poonam Sherwani
March-April 2021, 24(2):251-252
DOI
:10.4103/aian.AIAN_567_20
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3,324
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Distinctive imaging in a toddler with joubert's syndrome
Indar Kumar Sharawat, RK Naresh Singh, Prateek Kumar Panda
March-April 2021, 24(2):253-254
DOI
:10.4103/aian.AIAN_761_20
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LETTERS TO THE EDITOR
Case series of autosomal recessive hereditary spastic paraplegia in adults
Rahul T Chakor, Neelam S Patil
March-April 2021, 24(2):272-275
DOI
:10.4103/aian.AIAN_315_20
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2,037
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Unilateral positional convergence spasm during supine roll test - Not to be confused with benign paroxysmal positional vertigo
Vishal G Pawar, Masiulla Mohamed, Uzma Mehraj
March-April 2021, 24(2):275-276
DOI
:10.4103/aian.AIAN_225_20
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2,261
73
Lupus-associated internal carotid artery dissecting aneurysm: An occult association
Chandrakant Prasad, Ankur Khandelwal, Swapnil Patel, Mangesh Ganesh Mulaokar, Arvind Chaturvedi
March-April 2021, 24(2):276-277
DOI
:10.4103/aian.AIAN_314_20
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2,296
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Acute painful reversible steroid myopathy with IV methylprednisolone
Boby Varkey Maramattom, Hanna Angel Meleth
March-April 2021, 24(2):257-259
DOI
:10.4103/aian.AIAN_200_20
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2,752
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Metabolic or ischemic stroke in succinic semi-aldehyde dehydrogenase deficiency due to the homozygous variant c. 1343 + 1_1343 + 3delGTAinsTT in ALDH5A1
Sangeetha Yoganathan, Gautham Arunachal, Lisa Kratz, Mugil Varman, Maya Thomas, Sniya V Sudhakar, Samuel P Oommen, Sumita Danda
March-April 2021, 24(2):259-261
DOI
:10.4103/aian.AIAN_360_20
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Attenuated form of glycine encephalopathy: An unusual cause of neurodevelopmental disorder
Sangeetha Yoganathan, Rangan Srinivasaraghavan, Mahalakshmi Chandran, Lisa Kratz, Beena Koshy, Sniya Valsa Sudhakar, Gautham Arunachal, Maya Thomas, Sumita Danda
March-April 2021, 24(2):261-264
DOI
:10.4103/aian.AIAN_361_20
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1,543
84
Rare two findings in frontal lobe epilepsy: Finger snapping, and ictal alpha activity
Dilara Mermi Dibek, Cavid Baba, Nurcan Akbulut, Pınar Tamer Çoban, İbrahim Öztura, Barış Baklan
March-April 2021, 24(2):264-266
DOI
:10.4103/aian.AIAN_329_20
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3,430
86
Variations of mitochondrial ND4 and ND5 genes and their association with temporal lobe epilepsy in a Northern Han Chinese population
Wuqiong Zhang, Qilong Wang, Yingying Cheng, Hongmei Meng
March-April 2021, 24(2):266-267
DOI
:10.4103/aian.AIAN_216_20
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1,796
76
MicroRNAs in sudden death in parkinson's disease: Could the news be packaged?
Marcia Guimarães-Marques, Mariana Nejm, Carla A Scorza, Josef Finsterer, Roberta M Cysneiros, Fulvio A Scorza
March-April 2021, 24(2):268-269
DOI
:10.4103/aian.AIAN_224_20
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1,036
37
Levosulpiride-induced movement disorders: A compelling case for prudent use!
Divya M Radhakrishnan, Vinay Goyal
March-April 2021, 24(2):300-301
DOI
:10.4103/aian.AIAN_269_20
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1,638
89
Comment on clinical profile of genetically proven huntington's disease patients from Eastern India
Gustavo L Franklin, Carlos Henrique Camargo, Alex T Meira, Hélio A G. Teive
March-April 2021, 24(2):302-303
DOI
:10.4103/aian.AIAN_182_20
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Metabolic or ischemic stroke in succinic semi-aldehyde dehydrogenase deficiency due to the homozygous variant c. 1343 + 1_1343 + 3delGTAinsTT in
ALDH5A1
Josef Finsterer, Carla A Scorza, Fulvio A Scorza, Ritwik Ghosh
March-April 2021, 24(2):303-304
DOI
:10.4103/aian.AIAN_246_20
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1,653
84
Ischemic stroke associated with chronic xylometazoline nasal spray misuse: A rare avoidable adverse event
Jalpan Patel, Ishani Patel, Devangi Desai, Soaham Desai
March-April 2021, 24(2):304-307
DOI
:10.4103/aian.AIAN_291_20
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2,903
117
Tuberous sclerosis with multiple unusual associations
Aakanksha Choudhary, Divyani Garg, Sharmila B Mukherjee, Rama Anand, Partap Yadav, Anita Nangia, Suvasini Sharma
March-April 2021, 24(2):307-309
DOI
:10.4103/aian.AIAN_266_20
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1,673
75
A novel variant of COL6A2 gene causing bethlem myopathy and evaluation of essential hypertension
M Gultekin Kutluk, Naz Kadem, Omer Bektas, Nadide Cemre Randa, Gökcen O Z Tuncer, Pelin Albayrak, Tuba Eminoglu, Serap Tiras Teber
March-April 2021, 24(2):280-282
DOI
:10.4103/aian.AIAN_247_20
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2,743
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Postpartum optic neuropathy: Think of myelin oligodendrocyte glycoprotein immunoglobulin G-associated optic neuritis - Report of two cases
Rohan R Mahale, Nibu Varghese, Pooja Mailankody, Hansashree Padmanabha, PS Mathuranath
March-April 2021, 24(2):282-284
DOI
:10.4103/aian.AIAN_317_20
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1,879
79
Rabbit syndrome: An asymmetrical presentation
Anand Sankar Sastry, Madhusudan Rajendrakumar Tapdia, Abhishek Pathak, Varun Kumar Singh, Rameshwar Nath Chaurasia
March-April 2021, 24(2):284-286
DOI
:10.4103/aian.AIAN_398_20
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2,342
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Recurrent stroke in young: Rule out a cervical rib!
Ayush Agarwal, Ankit Goyal, Roopa Rajan, Leve Joseph, Ankita Gupta, Anu Gupta, Venugopalan Y Vishnu, Rohit Bhatia, Mamta Bhushan Singh, MV Padma Srivastava
March-April 2021, 24(2):286-288
DOI
:10.4103/aian.AIAN_325_20
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1,764
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SACS gene deletional mutation presenting as an isolated nonprogressive sensory motor axonal neuropathy: A case report
Vikash Agarwal, Dinesh Nayak, Anil Venkatachalam, Haseeb Hasan
March-April 2021, 24(2):288-290
DOI
:10.4103/aian.AIAN_240_20
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1,565
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Can circulating micrornas identify sudden unexpected death in parkinson's disease ?
Palaniswamy Ramaswamy, Ravi Yadav, Pramod K Pal, Rita Christopher
March-April 2021, 24(2):290-291
DOI
:10.4103/aian.AIAN_292_20
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Systemic lupus erythematosus presenting as acute sensory axonal neuropathy (ASAN)
Khushboo Gyanchandani, Neera Chaudhry, Cankatika Choudhury, Ananya Sengupta
March-April 2021, 24(2):292-293
DOI
:10.4103/aian.AIAN_344_19
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Authors' reply
Priyanka Samal, Vinay Goyal
March-April 2021, 24(2):293-294
DOI
:10.4103/aian.AIAN_364_20
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64
Spinocerebellar ataxia 42: A new entity in indian subcontinent
Rahul T Chakor, Paresh P Babel, Swaleha Nadaf
March-April 2021, 24(2):294-296
DOI
:10.4103/aian.AIAN_347_20
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Autosomal dominant cerebral small vessel disease in
HTRA1
gene mutation
Rohan R Mahale, Aakash Agarwal, Jyothi Gautam, Nibu Varghese, Jennifer Kovoor, Pooja Mailankody, Hansashree Padmanabha, Mathuranath Pavagada
March-April 2021, 24(2):297-299
DOI
:10.4103/aian.AIAN_381_20
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1,954
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LIGHTER MOMENTS (ARTWORK OR PHOTOGRAPHY)
Nature's call and DLBD phantasm
Ajith Cherian
March-April 2021, 24(2):255-255
DOI
:10.4103/aian.AIAN_113_21
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Virtual Graduates: Convocation 2021
Divyani Garg
March-April 2021, 24(2):256-256
DOI
:10.4103/aian.AIAN_32_21
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ORIGINAL ARTICLES
Risk and prognostic factors in perinatal hemorrhagic stroke
Hüseyin Çaksen, Fatma Tuba Köseoglu, Ahmet Sami Güven, Hüseyin Altunhan, Mehmet Sinan Iyisoy, Saim Açikgözoglu
March-April 2021, 24(2):227-233
DOI
:10.4103/aian.AIAN_580_20
Background:
Perinatal stroke encompasses a heterogeneous group of focal neurological injuries early in brain development. In this study, we aimed to compare risk and prognostic factors in preterm and term infants with perinatal hemorrhagic stroke (PHS).
Patients and Methods:
The study includes 66 infants with PHS. The infants were evaluated for demographic characteristics, fetal and maternal risk factors, perinatal events, clinical and neuroimaging findings, complications, and sequales.
Results:
Of 66 infants with PHS, 44 (66.70%) were preterm and 22 (33.30%) were term infants. Primiparity, mucosal bleeding, and multiple lobes involvement were more common in term infants than preterm infants (
P
< 0.05); however, respiratory insufficiency, neonatal sepsis, perinatal asphyxia, respiratory distress syndrome, use of invasive mechanical ventilation, use of noninvasive mechanical ventilation, and prolonged hospitalization were more common in preterm infants than term infants (
P
< 0.05). Eight (12.12%) infants died during infancy period. Small for gestational age and mucosal bleeding were more common in infants who are dead than those alive (
P
< 0.05). Forty-two (63.63%) infants were followed. Cerebral palsy and/or epilepsy and/or hydrocephalus were diagnosed in 36 (85.72%) infants during follow-up.
Conclusion:
Our findings showed that PHS was much more common in preterm infants. Mucosal bleeding and multiple lobes involvement were more common in term infants. PHS has high morbidity and mortality rates. Small for gestational age and mucosal bleeding were more common in infants who are dead.
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38
Evidence-based discriminant analysis: A new insight into iron profile for the diagnosis of parkinson's disease
Chandra Bhushan Tripathi, Mohit Gangania, Suman Kushwaha, Rachna Agarwal
March-April 2021, 24(2):234-238
DOI
:10.4103/aian.AIAN_419_20
Introduction:
Parkinson's disease is the second most common neurodegenerative disorder. Neurochemical studies have implicated metals in pathogenesis of PD.
Objectives:
To examine the association of serum iron, transferrin, ferritin, transferrin saturation and UIBC in PD patients and to derive the Discrimination Function with scores of these variables to correctly classify PD cases and healthy controls.
Methods:
In the present study, identification of biomarker pool in case-control study involving 79 PD cases and 80 healthy controls were performed.
Results:
The results of independent t-test analysis showed that PD cases presented significantly higher (
P
< 0.01) level of transferrin, total iron binding capacity (TIBC), unsaturated iron binding capacity (UIBC) and urea than controls. As only one-third of transferrin is saturated with iron, so the transferrin present in serum has the extra binding capacity (67%), this is called UIBC. Discriminant analysis was performed to determine the factors that best discriminate between the categories of an outcome variables (Disease status = PD and Control) and total of five biochemical independent variables (UIBC, transferrin, iron, transferrin saturation, and copper) were taken into consideration. UIBC has emerged out to be highest discriminating, powerful and independent variable among considered independent variables, which indicates iron deficiency. After development of Discriminant Function (Z) and calculation of discriminant function cut points, a cross-validation analysis of PD cases and controls were conducted. The sensitivity of the developed model was 98.73% and specificity 83.75%. Receiver operating characteristics (ROC) was plotted, and the findings of ROC curve corroborated with the results obtained from discriminant function analysis.
Conclusion:
Prospective validation of Discriminant model in large cohort is warranted in future studies.
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88
Bone mineral density and body composition in males with motor neuron disease: A study from teaching hospital in southern part of India
Basavaraj G Sooragonda, Sandeep Agarwal, Rohit Ninan Benjamin, AT Prabhakar, Ajith Sivadasan, Nitin Kapoor, Kripa E Cherian, Felix K Jebasingh, Sanjith Aaron, Nihal Thomas, Vivek Mathew, Hesarghatta S Asha, Thomas V Paul
March-April 2021, 24(2):211-216
DOI
:10.4103/aian.AIAN_293_20
Background:
Osteoporosis and sarcopenia are important aspects of motor neuron disease (MND). Individuals with amyotrophic lateral sclerosis (MND-ALS) have an increased risk of falls and fractures. Currently, the standard of care does not involve a routine assessment of bone mineral density (BMD) and body composition in these patients. We aimed to assess BMD, bone mineral parameters and body composition in men with MND and compared them with healthy controls.
Methods:
Consecutive males between 50 and 80 years of age diagnosed as MND-ALS by revised El Escorial criteria and able to walk unassisted attending Neurology outpatient clinic were recruited into the study. Age, gender and body mass index (BMI) matched healthy controls were recruited from the local community. BMD and body composition were assessed by dual-energy x-ray absorptiometry (DXA). Bone mineral parameters and bone turnover markers (BTMs) were also assessed in them.
Results:
A total of 30 subjects with MND-ALS and 33 controls were recruited. The mean age (years) was 59.2 in cases and 61.2 in controls. The mean BMD (g/cm
2
) between the two groups was similar; however, BTMs were significantly higher in the MND group (P < 0.05). Subjects with MND-ALS had significantly lower mean appendicular lean mass (ALM) (19.9 versus 22.4 kg;
P
= 0.007) and ALM corrected for BMI than the healthy control group (0.858 versus 0.934 kg/kg/m
2
;
P
= 0.034). Sarcopenic obesity (Percentage fat mass >27% + ALM/BMI <0.786 kg/kg/m
2
) was more prevalent in MND-ALS compared to controls (44.5% versus 16.7%;
P
= 0.03).
Conclusion:
Although BMD was not significantly different between subjects with MND-ALS and healthy controls, BTMs were significantly higher in the MND group indicating a high bone turnover state. Sarcopenia and sarcopenic obesity were also more in MND-ALS group than controls. Routine assessment for bone health parameters and body composition indices may be included in management of the patients with MND.
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Clinical features, gender differences, disease course, and outcome in neuromyelitis optica spectrum disorder
Nishita Singh, Rohit Bhatia, Prerna Bali, V Sreenivas, MV Padma, Vinay Goyal, Rohit Saxena, Deepa Dash, Ajay Garg, S Leve Joseph
March-April 2021, 24(2):186-191
DOI
:10.4103/aian.AIAN_334_20
Introduction:
Neuromyelitis optica spectrum disorder (NMOSD) is an astrocytopathy with a predilection for the optic nerve, spinal cord, and brainstem. In this ambispective study, we evaluate clinical characteristics, responses to therapy, and disability outcomes in patients with NMOSD.
Methods:
Patients diagnosed as NMOSD and following up for at least 1 year at a tertiary care center in India were recruited. Patient data were collected ambispectively from January 2012 until December 2018.
Results:
A total of 106 patients (29M/77F) with NMOSD were evaluated. The mean age of onset was 29 (±11.6) years. About 77 patients (72.64%) were positive for the AQP4 antibody. Age of onset was higher for those presenting with an opticospinal syndrome (34.2 years) as compared to either isolated longitudinally extensive transverse myelitis (LETM) (30 years) or optic neuritis (ON) (25.3 years). The most common syndrome at onset was LETM in 57 patients (53.77%) followed by ON in 31 patients (29.24%). Azathioprine was the most common immunotherapy (83.96%) prescribed followed by rituximab (7.54%) and mycophenolate mofetil (1.88%). There was a significant decrease in the number of relapses post-azathioprine (
P
< 0.001). Out of 67 patients with ON, 21 (31.34%) had complete recovery while 17 (25.37%) patients had a severe deficit at a 3-month follow-up. Out of 92 patients with a motor deficit, 49 (53.26%) patients had a partial motor deficit at a 6-month follow-up. The severe visual deficit at baseline and female gender predicted poor visual and motor recovery, respectively.
Conclusion:
This is the largest descriptive study on patients with NMOSD from India. Relapse rates were similar irrespective of the clinical presentation, age, gender, and disease course. Treatment with immunosuppressive treatment significantly affected the disease course.
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Neuronal ceroid lipofuscinoses in children
Mahesh Kamate, Narendranadha Reddy, Mayank Detroja, Virupaxi Hattiholi
March-April 2021, 24(2):192-197
DOI
:10.4103/aian.AIAN_61_20
Background:
The neuronal ceroid lipofuscinoses (NCL) constitute a group of gray matter neurodegenerative disorders characterized by the accumulation of ceroid lipopigment in lysosomes in neurons and other cell types. There are very few published studies on NCL from India, especially in children.
Methods:
A retrospective study of confirmed patients of NCL diagnosed over a period of 10 years from January 2019 to December 2019.
Results:
Fifty children had a definitive diagnosis of NCL based on enzymatic studies or genetic testing using next-generation sequencing. Around 15 children were diagnosed to have CLN-1 (ceroid lipofuscinoses, neuronal-1) based on palmitoyl protein thioesterase-1 deficiency; 24 children were diagnosed with CLN2 (ceroid lipofuscinoses, neuronal-2) based on deficient tripeptidyl-peptidase-1 activity; three patients were diagnosed as CLN6, five patients as CLN7, one case each of CLN8, CLN11, and CLN14 based on genetic testing. Clinical presentation was quite varied and included refractory seizures, developmental delay/regression, and abnormal movements. Visual failure was not common in the present case series. Neuroimaging patterns in different types of NCL were different. All children had a progressive downhill course resulting in death in many over a period of 5–10 years of disease onset.
Conclusion:
NCL is not uncommon and diagnosis can be suspected based on clinical investigations and neuroimaging findings. Diagnosis can be confirmed by enzymatic assays or genetic testing.
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Utility of immunohistochemistry and western blot in profiling clinically suspected cases of congenital muscular dystrophy
Radhika Mhatre, Deepha Sekar, Jessiena Ponmalar, Madhu Nagappa, Preethish-Kumar Veeramani, Kiran Polavarapu, Seena Vengalil, Nalini Atchayaram, Gayathri Narayanappa
March-April 2021, 24(2):198-203
DOI
:10.4103/aian.AIAN_18_20
Objective:
Immunocharacterization of congenital muscular dystrophy (CMD) to determine the frequency of various subtypes in a large Indian Cohort.
Materials and Methods:
This retrospective (2014-2017) study was carried on muscle biopsies of clinically suspected cases of CMD with histological evidence of dystrophy/myopathic features. Immunohistochemistry (IHC) to antibodies against laminin (α2, α5,β1,γ1), Collagen-VI (A1,2,3), and Western blot (WB) for α-dystroglycan and POMT1 was performed.
Results:
The study included 57 cases, of which 15 cases (26.3%) had mean age at presentation of 3.5 years, M: F = 1.5:1, elevated creatinine kinase (CK) (mean 1657 U/L), global developmental delay, multiple contractures, abnormal facies, white matter hyperintensities and showed laminin-α2 deficiency (Merosin deficient CMD). In addition, secondary reduction in laminin-β1, over-expression of laminin-α5, and preserved laminin-γ1 was noted. Ullrich CMD constituted 11/57 cases (19.2%) with mean age at presentation of 5.3 years, M: F = 1.2:1 and normal CK. They presented with proximal muscle weakness, soft velvety palms and soles, contractures, and joint hyperextensibility. Collagen-VI (A1,2,3) showed either complete (
n
= 3) or sarcolemmal specific (
n
= 8) loss of staining. Out of the remaining 31 cases, WB for α-dystroglycan was performed in 17 cases which showed deficiency in seven (12.3%). Three of these in addition revealed secondary partial loss of laminin-α2. WB for POMT1 showed deficiency in a single case clinically diagnosed Walker–Warburg syndrome, who presented with seizures and classical features of pachygyria, lissencephaly, and cerebellar cyst on MRI. Twenty-four cases (42.2%) remained uncharacterized and need genetic evaluation.
Conclusion:
The study helped in characterizing 57.8% of the proband. Immunotyping helps to direct mutational analysis for targeted genes and offers a potential route for prenatal diagnosis.
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REVIEW ARTICLES
Biotin-thiamine-responsive basal ganglia disease in children: A treatable neurometabolic disorder
Arushi G Saini, Suvasini Sharma
March-April 2021, 24(2):173-177
DOI
:10.4103/aian.AIAN_952_20
Biotin-thiamine-responsive basal ganglia disease is a rare, autosomal recessive, treatable, neurometabolic disorder associated with biallelic pathogenic variations in the
SLC19A3
gene. The condition may present as an early-childhood encephalopathy, an early-infantile lethal encephalopathy with lactic acidosis, with or without infantile spasms, or a late-onset Wernicke-like encephalopathy. The key radiological features are bilateral, symmetrical lesions in the caudate, putamen, and medial thalamus, with variable extension into the brain stem, cerebral cortex, and cerebellum. Treatment is life long and includes initiation of high dose biotin and thiamine. Genetic testing confirms the diagnosis. The prognosis depends on the time from diagnosis to the time of vitamin supplementation. The genotype-phenotype correlations are not clear yet, but the early infantile phenotype portends a poorer prognosis. We provide a brief overview of the disorder and emphasize the initiation of high-dose biotin and thiamine in infants and children with unexplained encephalopathy and basal ganglia involvement.
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SHORT COMMUNICATION
Infection-associated peripheral nerve hyperexcitability: An under-recognized entity
Ajith Sivadasan, Aditya Nair, Angel Miraclin, Arun Mathai Mani, AT Prabhakar, John Antony Jude Prakash, Vivek Mathew
March-April 2021, 24(2):243-246
DOI
:10.4103/aian.AIAN_427_20
Background:
Peripheral nerve hyperexcitability (PNH) and neuromyotonia have been mainly attributed to antibodies against voltage-gated potassium channels (VGKC). Concurrent autoimmune disorders, malignancies, and heavy metal toxicity have also been implicated. There is scarce mention about infection as a triggering factor for PNH. There are no reports of methicillin-resistant
Staphylococcus aureus
(MRSA) infection being a possible precipitating factor for development of PNH.
Methods:
Case series and literature review.
Results:
Four subjects were diagnosed to have features of PNH based on clinical and electrophysiological assessment. All the subjects had concurrent evidence of cutaneous abscesses requiring surgical intervention and antibiotic therapy. The cultures in all of them revealed growth of
Staphylococcus aureus
with three of them being MRSA isolates. Two subjects tested positive for anti-VGKC antibodies. There was remarkable resolution in neuromyotonia after antibiotics in three subjects. One subject succumbed to fulminant MRSA septicemia.
Conclusion:
There appears to be a definitive link between staphylococcal infection (MRSA in particular) and development of PNH. The temporal evolution of PNH associated with the infection and resolution following treatment of the infection does support a causal association. The enterotoxins produced by staphylococci act as superantigens and could trigger an inflammatory cascade along with development of cross reacting antibodies against VGKC in peripheral nerves. Future studies with animal models could provide more directions in this regard.
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VIEW POINT
Enhancing quality of life in indian parkinson's disease patients with improved measurement of psychological domains: A perspective
Ashima Nehra, Priya Sharma, Avneesh Narain, Shivani Sharma, Garima Joshi, Priyanka Bhat, Rajesh Kumar Singh, Roopa Rajan, Vinay Goyal, Achal Kumar Srivastava
March-April 2021, 24(2):132-137
DOI
:10.4103/aian.AIAN_410_20
Parkinson's disease (PD) is the second most common progressive neuro-degenerative disorder. Research in PD is gradually increasing in India due to increased clinical cases, which could double by 2030 worldwide. Although its prevalence is low in India as compared to other countries, the total burden is much higher due to the large population size. PD is progressively debilitating, with pronounced motor and nonmotor symptoms (NMSs) that severely affect the quality of life (QoL) of patients and their caregivers. The progressive nature of the disease lays great emphasis on doctors to focus on the patients' QoL. As a consequence, Health-related QoL (HRQoL) has gradually become one of the main indicators for assessing health-related outcome. There is a growing need to pay attention to the NMSs and a pressing need to look at the QoL of Indian patients with PD through a culture and value specific lens. Research into the holistic QoL assessment with emphasis on psychological domains may allow for the early evaluation and intervention of depressive and cognitive symptoms in PD. This could result into increased productivity, reduced morbidity, and healthcare cost, which would in turn result into better QoL of Indian PD patients.
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Role of vitamin D in cerebrovascular disease
Subhash Kaul, Jayasree Manikinda
March-April 2021, 24(2):142-145
DOI
:10.4103/aian.AIAN_928_20
Introduction:
Vitamin D deficiency is now a well-recognized public health problem affecting almost every second person throughout the world. Recent evidence from many population-based studies has indicated that a poor vitamin D status is a predictor of future strokes.
Materials and Methods:
We reviewed recent studies on 25-hydroxyvitamin D [25(OH)D] and symptomatic ischemic stroke. A graded increase in the risk of symptomatic ischemic stroke with decreasing levels of plasma 25(OH)D has been found in most of the studies. Vitamin D also has a role in the poststroke period where its deficiency may hinder the rehabilitation process.
Conclusions:
After reviewing current literature on the subject, we conclude that there are some data to suggest the role of vitamin D in patients with stroke but it cannot be concluded as a risk factor for stroke. Larger population-based studies are needed to confirm the causative role of vitamin D in stroke.
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© 2006 - Annals of Indian Academy of Neurology | Published by Wolters Kluwer -
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Online since 1
st
March, 2006