First case of autosomal dominant cerebellar ataxia with deafness and narcolepsy (ADCA-DN) with confirmed DMNT1 gene mutation in Spain. Review of the DMNT1 mutation syndromes

Neurol Sci. 2024 Feb;45(2):791-793. doi: 10.1007/s10072-023-07094-z. Epub 2023 Oct 13.
No abstract available

Publication types

  • Letter

MeSH terms

  • Cerebellar Ataxia* / complications
  • Cerebellar Ataxia* / diagnosis
  • Cerebellar Ataxia* / genetics
  • Deafness* / genetics
  • Genes, Dominant
  • Humans
  • Mutation / genetics
  • Narcolepsy* / complications
  • Narcolepsy* / diagnosis
  • Narcolepsy* / genetics
  • Pedigree
  • Spain