Genetic and clinical features of cerebellar ataxia with RFC1 biallelic repeat expansions in Japan

Genetic and clinical features of cerebellar ataxia with RFC1 biallelic repeat expansions in Japan

The recessive intronic pentanucleotide repeat AAGGG expansion of replication factor complex subunit 1 (RFC1) is associated with cerebellar ataxia, sensory neuropathy, and vestibular areflexia syndrome. And the clinical spectrum has been continuously expanding. We conducted this study to demonstrate...

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Bibliographic Details
Main Authors: Masahiro Ando, Yujiro Higuchi, Junhui H. Yuan, Akiko Yoshimura, Shuntaro Higashi, Mika Takeuchi, Takahiro Hobara, Fumikazu Kojima, Yutaka Noguchi, Jun Takei, Yu Hiramatsu, Satoshi Nozuma, Yusuke Sakiyama, Akihiro Hashiguchi, Eiji Matsuura, Yuji Okamoto, Masahiro Nagai, Hiroshi Takashima
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-08-01
Series:Frontiers in Neurology
Subjects:
cerebellar ataxia
RFC1
(AAGGG)exp
(ACAGG)exp
(AAAGG)10−25(AAGGG)exp
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2022.952493/full

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https://www.frontiersin.org/articles/10.3389/fneur.2022.952493/full

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