Ataxia with oculomotor apraxia type 2 caused by a novel homozygous mutation in SETX gene, and literature review

Ataxia with oculomotor apraxia type 2 caused by a novel homozygous mutation in SETX gene, and literature review

ObjectivesAutosomal recessive inherited ataxia with oculomotor apraxia type 2 (AOA2), caused by SETX gene mutations, is characterized by early-onset, progressive cerebellar ataxia, peripheral neuropathy, oculomotor apraxia and elevated serum α-fetoprotein (AFP). This study aimed to expand and summar...

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Bibliographic Details
Main Authors: Shuaishuai Chen, Juping Du, Huihua Jiang, Weibo Zhao, Na Wang, Anna Ying, Jun Li, Shiyong Chen, Bo Shen, Yuanlin Zhou
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-11-01
Series:Frontiers in Molecular Neuroscience
Subjects:
ataxia with oculomotor apraxia type 2
SETX gene
early-onset menopause
Whole-exome sequencing
clinical and genetic spectrum
Online Access:https://www.frontiersin.org/articles/10.3389/fnmol.2022.1019974/full

Internet

https://www.frontiersin.org/articles/10.3389/fnmol.2022.1019974/full

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