RFC1 repeat expansion in Japanese patients with late-onset cerebellar ataxia.

Journal of Human Genetics
Mai TsuchiyaYoshihisa Takiyama

Abstract

Recently, the expansion of an intronic AAGGG repeat in the replication factor C subunit 1 (RFC1) gene was reported to cause cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS). In Europeans, the expansion accounted for 22% of sporadic patients with late-onset ataxia. We genotyped 37 Japanese patients comprising 25 familial (autosomal recessive or undecided transmission) and 12 sporadic ones with late-onset ataxia. We found intronic repeat expansions in RFC1 in three (12%) of the familial patients and one (8.5%) of the sporadic ones. Although our cohort study was small, the disease frequency in Japanese patients with CANVAS might be lower than that in European ones. In addition, we found biallelic ACAGG repeat expansion in one patient, indicating ACAGG repeat expansion might cause CANVAS. Clinically, we found one patient with sleep apnea syndrome, which has not been reported previously. Thus, this study might expand the clinical and genetic spectrum of CANVAS.

References

Apr 1, 2014·Neurology·David J SzmulewiczG Michael Halmagyi
Nov 2, 2017·Auris, Nasus, Larynx·Masakatsu TakiShigeru Hirano
Jan 5, 2019·Rinshō shinkeigaku = Clinical neurology·Kyoko MarutaYoshito Sonoda
Feb 11, 2020·Brain : a Journal of Neurology·Andrea CorteseMary M Reilly

❮ Previous
Next ❯

Citations

Mar 22, 2021·Clinical Genetics·Zoi KontogeorgiouGeorgios Koutsis
Apr 4, 2021·American Journal of Human Genetics·Christel Depienne, Jean-Louis Mandel
Apr 23, 2021·Journal of Neurology·Matteo TagliapietraGian Maria Fabrizi
May 5, 2021·Otolaryngology--head and Neck Surgery : Official Journal of American Academy of Otolaryngology-Head and Neck Surgery·María CostalesRubén Cabanillas
May 11, 2021·Brain : a Journal of Neurology·Riccardo CurròAndrea Cortese
Jun 19, 2021·Nature Reviews. Molecular Cell Biology·Indranil MalikPeter K Todd
Jul 7, 2021·Current Opinion in Neurology·Roisin SullivanHenry Houlden

❮ Previous
Next ❯

Methods Mentioned

BETA
PCR

Software Mentioned

CANVAS

Related Concepts

Related Feeds

Ataxias (MDS)

Ataxia is a neurological condition characterized by lack of voluntary coordination of muscle movements including loss of coordination, balance, and speech. Discover the latest research on ataxia here.

Ataxia telangiectasia (MDS)

Ataxia telangiectasia is a rare neurodegenerative diseases caused by defects in the ATM gene, which is involved in DNA damage recognition and repair pathways. Here is the latest research on this autosomal recessive disease.

Ataxia

Ataxia is a neurological condition characterized by lack of voluntary coordination of muscle movements including loss of coordination, balance, and speech. Discover the latest research on ataxia here.

Ataxias

Ataxia is a neurological condition characterized by lack of voluntary coordination of muscle movements including loss of coordination, balance, and speech. Discover the latest research on different types of ataxias here.

Related Papers

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Maria João MalaquiasMarina Magalhães
© 2021 Meta ULC. All rights reserved