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Annals of Indian Academy of Neurology
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LMNB1 duplication-mediated autosomal dominant adult-onset leukodystrophy in an Indian family


1 Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India
2 Department of Human Genetics, Graduate School of Public Health, University of Pittsburg, Pittsburgh, PA, USA

Correspondence Address:
Sunita Bijarnia-Mahay,
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi - 110 060
India
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/aian.AIAN_1262_20

Autosomal dominant leukodystrophy is an adult onset neurodegenerative disorder presenting with progressive symptoms of ataxia and autonomic dysfunction in fourth or fifth decade in life. It has clinical similarity with multiple sclerosis, but shows characteristic magnetic resonance imaging findings of diffuse bilaterally symmetrical leukodystrophy which can distinguish this disorder. It is a rare disorder with no known treatment till date, and has never been described from the Indian subcontinent. We present an Indian family with autosomal dominant adult-onset demyelinating leukodystrophy with multiple members affected over four generations, and demonstrate a cheap and accurate molecular method of real-time polymerase chain reaction to detect the LMNB1 gene duplication, which is the genetic basis of this devastating disorder.


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    -  Bijarnia-Mahay S
    -  Roy G
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