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)

Neurol Sci. 2019 Sep;40(9):1963-1966. doi: 10.1007/s10072-019-03859-7. Epub 2019 Mar 25.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Aged
  • Cerebellar Ataxia* / diagnosis
  • Cerebellar Ataxia* / genetics
  • Cerebellar Ataxia* / physiopathology
  • DNA (Cytosine-5-)-Methyltransferase 1 / genetics*
  • Hearing Loss, Sensorineural* / diagnosis
  • Hearing Loss, Sensorineural* / genetics
  • Hearing Loss, Sensorineural* / physiopathology
  • Hereditary Sensory and Autonomic Neuropathies* / diagnosis
  • Hereditary Sensory and Autonomic Neuropathies* / genetics
  • Hereditary Sensory and Autonomic Neuropathies* / physiopathology
  • Humans
  • Male
  • Mutation
  • Narcolepsy* / diagnosis
  • Narcolepsy* / genetics
  • Narcolepsy* / physiopathology
  • Pedigree
  • Phenotype

Substances

  • DNA (Cytosine-5-)-Methyltransferase 1
  • DNMT1 protein, human

Supplementary concepts

  • Cerebellar Ataxia, Deafness, and Narcolepsy
  • Hereditary Sensory and Autonomic Neuropathy Type Ie