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Article

Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation.

American journal of human genetics - 12 Aug 2011

Doi Hiroshi, Yoshida Kunihiro, Yasuda Takao, Fukuda Mitsunori, Fukuda Yoko, Morita Hiroshi, Ikeda Shu-ichi, Kato Rumiko, Tsurusaki Yoshinori, Miyake Noriko, Saitsu Hirotomo, Sakai Haruya, Miyatake Satoko, Shiina Masaaki, Nukina Nobuyuki, Koyano Shigeru, Tsuji Shoji, Kuroiwa Yoshiyuki, Matsumoto Naomichi

Abstract excerpt

Autosomal-recessive cerebellar ataxias (ARCAs) are clinically and genetically heterogeneous disorders associated with diverse neurological and nonneurological features that occur before the age of 20. Currently, mutations in more than 20 genes have been identified, but approximately half of the ARCA patients remain genetically unresolved. In this report, we describe a Japanese family in which two siblings have...

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Identifiers

PMID: 21835308
DOI: 10.1016/j.ajhg.2011.07.012
PMCID: PMC3155161

Genes

SYT14

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