Novel de novo DNMT1 gene mutation associated with hereditary sensory and autonomic neuropathy 1E (HSAN1E).

Item request has been placed! ×
Item request cannot be made. ×
loading   Processing Request
Read Online Read More Add to Saved list
  • Additional Information
    • Subject Terms:
      CATAPLEXY; DYSAUTONOMIA; GENETIC mutation; NEUROPATHY; AUDITORY evoked response; GENETIC variation; NEUROLOGICAL disorders
    • 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]
    • Abstract:
      Copyright of Neurological Sciences is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)