학술논문
Novel de novo DNMT1 gene mutation associated with hereditary sensory and autonomic neuropathy 1E (HSAN1E).
Document Type
Article
Source
Subject
*CATAPLEXY
*DYSAUTONOMIA
*GENETIC mutation
*NEUROPATHY
*AUDITORY evoked response
*GENETIC variation
*NEUROLOGICAL disorders
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Language
ISSN
1590-1874
Abstract
Dear Sirs, Hereditary sensory autonomic neuropathy with dementia and hearing loss (HSAN1E) is an adult onset, autosomal-dominant neurodegenerative disorder caused by heterozygous pathogenic mutations in the DNA methyltransferase 1 ( I DNMT1 i ) gene [[1]]. 5014076 3 Catania A, Peverelli L, Tabano S. DNMT1-complex disorder caused by a novel mutation associated with an overlapping phenotype of autosomal-dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN) and hereditary sensory neuropathy with dementia and hearing loss (HSN1E). [Extracted from the article]