Erschienen in:
13.10.2023 | Letter to the Editor
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
verfasst von:
Carlos José de Miguel-Sanchez, Ana Gomez-Roldós, Rafael Leal-Hidalgo, Gemma Lafuente-Gómez, Dalila Estrada-Huesa, Natalia Bravo-Quelle, Miguel González-Sánchez
Erschienen in:
Neurological Sciences
|
Ausgabe 2/2024
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Excerpt
Autosomal dominant cerebellar ataxia with deafness and narcolepsy (ADCA-DN) is an ultra-rare genetic disease caused by an autosomal-dominant mutation in the DNA methyltransferase-1 (
DNMT1) gene [
1]. This condition normally presents with the neurological triad mentioned in its name around the age of 40. …