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Article

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

Journal of molecular neuroscience : MN - 1 Sept 2021

Kikuchi Junko Kanda, Nagashima Yu, Mano Tatsuo, Ishiura Hiroyuki, Hayashi Toshihiro, Shimizu Jun, Matsukawa Takashi, Ichikawa Yaeko, Takahashi Yuji, Karino Shotaro, Kanbayashi Takashi, Kira Junichi, Goto Jun, Tsuji Shoji

Abstract excerpt

The phenotypes of patients with disease-associated variants in DNMT1 have been classified into two syndromes: hereditary sensory and autonomic neuropathy type 1E (HSAN1E, MIM614116, https://www.omim.org/ ) and autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN, MIM604121). The amino acid codon 511 is a hotspot, and p.Y511C is the most frequently observed disease-associated variant among those...

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PMID: 33433851
DOI: 10.1007/s12031-020-01784-5

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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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