Cerebellar Ataxia, Deafness, and Narcolepsy

MedGen UID:: 347726
•Concept ID:: C1858804
•: Disease or Syndrome

Recent clinical studies

Etiology

Mutations in human DNA methyltransferase DNMT1 induce specific genome-wide epigenomic and transcriptomic changes in neurodevelopment.

Davis KN, Qu PP, Ma S, Lin L, Plastini M, Dahl N, Plazzi G, Pizza F, O'Hara R, Wong WH, Hallmayer J, Mignot E, Zhang X, Urban AE
Hum Mol Genet 2023 Oct 17;32(21):3105-3120. doi: 10.1093/hmg/ddad123. PMID: 37584462 Free PMC Article

Identification of a novel DNMT1 mutation in a Chinese patient with hereditary sensory and autonomic neuropathy type IE.

Zheng W, Yan Z, He R, Huang Y, Lin A, Huang W, Su Y, Li S, Zhang VW, Xie H
BMC Neurol 2018 Oct 20;18(1):174. doi: 10.1186/s12883-018-1177-2. PMID: 30342480 Free PMC Article

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Diagnosis

Autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN) associated with progressive cognitive and behavioral deterioration.

Walker LA, Bourque P, Smith AM, Warman Chardon J
Neuropsychology 2017 Mar;31(3):292-303. Epub 2016 Nov 21 doi: 10.1037/neu0000322. PMID: 27869457

Defects of mutant DNMT1 are linked to a spectrum of neurological disorders.

Baets J, Duan X, Wu Y, Smith G, Seeley WW, Mademan I, McGrath NM, Beadell NC, Khoury J, Botuyan MV, Mer G, Worrell GA, Hojo K, DeLeon J, Laura M, Liu YT, Senderek J, Weis J, Van den Bergh P, Merrill SL, Reilly MM, Houlden H, Grossman M, Scherer SS, De Jonghe P, Dyck PJ, Klein CJ
Brain 2015 Apr;138(Pt 4):845-61. Epub 2015 Feb 11 doi: 10.1093/brain/awv010. PMID: 25678562 Free PMC Article

Narcolepsy is a common phenotype in HSAN IE and ADCA-DN.

Moghadam KK, Pizza F, La Morgia C, Franceschini C, Tonon C, Lodi R, Barboni P, Seri M, Ferrari S, Liguori R, Donadio V, Parchi P, Cornelio F, Inzitari D, Mignarri A, Capocchi G, Dotti MT, Winkelmann J, Lin L, Mignot E, Carelli V, Plazzi G
Brain 2014 Jun;137(Pt 6):1643-55. Epub 2014 Apr 10 doi: 10.1093/brain/awu069. PMID: 24727570

A novel de novo exon 21 DNMT1 mutation causes cerebellar ataxia, deafness, and narcolepsy in a Brazilian patient.

Pedroso JL, Povoas Barsottini OG, Lin L, Melberg A, Oliveira AS, Mignot E
Sleep 2013 Aug 1;36(8):1257-9, 1259A. doi: 10.5665/sleep.2898. PMID: 23904686 Free PMC Article

Neuroimaging study in autosomal dominant cerebellar ataxia, deafness, and narcolepsy.

Melberg A, Dahl N, Hetta J, Valind S, Nennesmo I, Lundberg PO, Raininko R
Neurology 1999 Dec 10;53(9):2190-2. doi: 10.1212/wnl.53.9.2190. PMID: 10599806

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Prognosis

Autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN) associated with progressive cognitive and behavioral deterioration.

Walker LA, Bourque P, Smith AM, Warman Chardon J
Neuropsychology 2017 Mar;31(3):292-303. Epub 2016 Nov 21 doi: 10.1037/neu0000322. PMID: 27869457

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Clinical prediction guides

Cerebellar Ataxia as a Common Clinical Presentation Associated with DNMT1 p.Y511H and a Review of the Literature.

Kikuchi JK, Nagashima Y, Mano T, Ishiura H, Hayashi T, Shimizu J, Matsukawa T, Ichikawa Y, Takahashi Y, Karino S, Kanbayashi T, Kira J, Goto J, Tsuji S
J Mol Neurosci 2021 Sep;71(9):1796-1801. Epub 2021 Jan 12 doi: 10.1007/s12031-020-01784-5. PMID: 33433851

Defects of mutant DNMT1 are linked to a spectrum of neurological disorders.

Narcolepsy is a common phenotype in HSAN IE and ADCA-DN.

A novel de novo exon 21 DNMT1 mutation causes cerebellar ataxia, deafness, and narcolepsy in a Brazilian patient.

Pedroso JL, Povoas Barsottini OG, Lin L, Melberg A, Oliveira AS, Mignot E
Sleep 2013 Aug 1;36(8):1257-9, 1259A. doi: 10.5665/sleep.2898. PMID: 23904686 Free PMC Article

Autosomal dominant cerebellar ataxia deafness and narcolepsy.

Melberg A, Hetta J, Dahl N, Nennesmo I, Bengtsson M, Wibom R, Grant C, Gustavson KH, Lundberg PO
J Neurol Sci 1995 Dec;134(1-2):119-29. doi: 10.1016/0022-510x(95)00228-0. PMID: 8747854

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