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Article

Cataplexy and ataxia: red flags for the diagnosis of DNA methyltransferase 1 mutation.

Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine - 15 Jan 2020

Postiglione Emanuela, Antelmi Elena, Pizza Fabio, Vandi Stefano, La Morgia Chiara, Carelli Valerio, Nassetti Stefania, Seri Marco, Plazzi Giuseppe

Abstract excerpt

None: Mutations in exons 21 and 20 of the DMNT1 gene have been associated with two multisystem neurodegenerative diseases that involve central and peripheral nervous system ADCADN (Autosomal Dominant Cerebellar Ataxia with Deafness and Narcolepsy) and HSAN 1E (Hereditary Sensory and Autonomic Neuropathy IE). We describe a new case of ADCADN that was referred to us in the suspicion of secondary narcolepsy. A...

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Identifiers

PMID: 31957642
DOI: 10.5664/jcsm.8140
PMCID: PMC7052993

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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