LMNB1 duplication-mediated autosomal dominant adult-onset leukodystrophy in an Indian family
| Autor: | Sunita Bijarnia-Mahay, Gaurav Roy, Quasar S Padiath, Renu Saxena, Ishwar Chander Verma |
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| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: | |
| Zdroj: | Annals of Indian Academy of Neurology, Vol 24, Iss 3, Pp 413-416 (2021) |
| Druh dokumentu: | article |
| ISSN: | 0972-2327 1998-3549 |
| DOI: | 10.4103/aian.AIAN_1262_20 |
| Popis: | 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. |
| Databáze: | Directory of Open Access Journals |
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