Annals of Indian Academy of Neurology
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Year : 2020  |  Volume : 23  |  Issue : 6  |  Page : 802-804

Mitochondrial membrane protein–associated neurodegeneration: A case series of six children

1 Departments of Pediatric Neurology, AGENTEM, Cukurova University Faculty of Medicine, Adana, Turkey
2 Department of Medical Genetics, AGENTEM, Cukurova University Faculty of Medicine, Adana, Turkey

Correspondence Address:
Dr. Faruk Incecik
Toros Mah., Barış Manço Bul. 78178 Sok., Yeşilpark Evleri, A Blok, Kat: 7/13, Çukurova, Adana
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/aian.AIAN_268_19

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Neurodegeneration with brain iron accumulation (NBIA) is a group of genetic disorders with a progressive extrapyramidal syndrome and excessive iron deposition in the brain, particularly in the globus pallidus and substantia nigra. Mitochondrial membrane protein–associated neurodegeneration (MPAN), a subtype of NBIA, is caused by mutation in the orphan gene C19orf12. A slowly progressive gait disorder from generalized dystonia and spasticity and cognitive impairment constitute the main features of MPAN. The C19orf12 p.Thr11Met mutation is frequent among Turkish patients with MPAN. Here, we report the clinical manifestations and genetic study results of six Turkish patients with MPAN due to different mutations from previous.

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