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13-10-2023 | Narcolepsy | 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

Authors: Carlos José de Miguel-Sanchez, Ana Gomez-Roldós, Rafael Leal-Hidalgo, Gemma Lafuente-Gómez, Dalila Estrada-Huesa, Natalia Bravo-Quelle, Miguel González-Sánchez

Published in: Neurological Sciences | Issue 2/2024

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. …

Winkelmann J, Lin L, Schormair B, Kornum BR, Faraco J, Plazzi G et al (2012) Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy. Hum Mol Genet 21(10):2205–2210CrossRefPubMedPubMedCentral

Melberg A, Hetta J, Dahl N, Nennesmo I, Bengtsson M, Wibom R et al (1995) Autosomal dominant cerebellar ataxia deafness and narcolepsy. J Neurol Sci 134(1–2):119–129CrossRefPubMed

Klein CJ, Botuyan M, Wu Y, Ward CJ, Nicholson GA, Hammans S et al (2011) Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss. Nat genet 43(6):595–600CrossRefPubMedPubMedCentral

Klein CJ. DNMT1 -related disorder. Gene review [Internet]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK84112/

Baets J, Duan X, Wu Y, Smith G, Seeley WW, Mademan I et al (2015) Defects of mutant DNMT1 are linked to a spectrum of neurological disorders. Brain 138(4):845–861CrossRefPubMedPubMedCentral

National Center for Biotechnology Information (NCBI). RCV000043632. ClinVar. https://www.ncbi.nlm.nih.gov/clinvar/RCV000043632/. Updated January 4, 2021; Accessed September 2, 2023.

Title: 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
Authors: Carlos José de Miguel-Sanchez
Ana Gomez-Roldós
Rafael Leal-Hidalgo
Gemma Lafuente-Gómez
Dalila Estrada-Huesa
Natalia Bravo-Quelle
Miguel González-Sánchez
Publication date: 13-10-2023
Publisher: Springer International Publishing
Keywords: Narcolepsy
Multiple Sleep Latency Test
Dementia
Dementia
Published in: Neurological Sciences / Issue 2/2024
Print ISSN: 1590-1874
Electronic ISSN: 1590-3478
DOI: https://doi.org/10.1007/s10072-023-07094-z

Keynote webinar | Spotlight on medication adherence

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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

Excerpt

Keynote webinar | Spotlight on medication adherence

Springer Medicine

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