Identification of a Novel Homozygous SPG7 Mutation in a Japanese Patient with Spastic Ataxia: Making an Efficient Diagnosis Using Exome Sequencing for Autosomal Recessive Cerebellar Ataxia and Spastic Paraplegia

Hiroshi Doi; Chihiro Ohba; Yoshinori Tsurusaki; Satoko Miyatake; Noriko Miyake; Hirotomo Saitsu; Yuko Kawamoto; Tamaki Yoshida; Shigeru Koyano; Yume Suzuki; Yoshiyuki Kuroiwa; Fumiaki Tanaka; Naomichi Matsumoto

doi:10.2169/internalmedicine.52.0252

CASE REPORTS

Identification of a Novel Homozygous SPG7 Mutation in a Japanese Patient with Spastic Ataxia: Making an Efficient Diagnosis Using Exome Sequencing for Autosomal Recessive Cerebellar Ataxia and Spastic Paraplegia

Hiroshi Doi, Chihiro Ohba, Yoshinori Tsurusaki, Satoko Miyatake, Noriko Miyake, Hirotomo Saitsu, Yuko Kawamoto, Tamaki Yoshida, Shigeru Koyano, Yume Suzuki, Yoshiyuki Kuroiwa, Fumiaki Tanaka, Naomichi Matsumoto

Author information

Hiroshi Doi
Department of Human Genetics, Yokohama City University, Japan
Department of Clinical Neurology and Stroke Medicine, Yokohama City University, Japan
Chihiro Ohba
Department of Human Genetics, Yokohama City University, Japan
Department of Clinical Neurology and Stroke Medicine, Yokohama City University, Japan
Yoshinori Tsurusaki
Department of Human Genetics, Yokohama City University, Japan
Satoko Miyatake
Department of Human Genetics, Yokohama City University, Japan
Noriko Miyake
Department of Human Genetics, Yokohama City University, Japan
Hirotomo Saitsu
Department of Human Genetics, Yokohama City University, Japan
Yuko Kawamoto
Department of Clinical Neurology and Stroke Medicine, Yokohama City University, Japan
Tamaki Yoshida
Department of Clinical Neurology and Stroke Medicine, Yokohama City University, Japan
Shigeru Koyano
Department of Clinical Neurology and Stroke Medicine, Yokohama City University, Japan
Yume Suzuki
Department of Clinical Neurology and Stroke Medicine, Yokohama City University, Japan
Yoshiyuki Kuroiwa
Department of Clinical Neurology and Stroke Medicine, Yokohama City University, Japan
Fumiaki Tanaka
Department of Clinical Neurology and Stroke Medicine, Yokohama City University, Japan
Naomichi Matsumoto
Department of Human Genetics, Yokohama City University, Japan

Keywords: cerebellar ataxia, spastic paraplegia, exome, SPG7, paraplegin

JOURNAL OPEN ACCESS

2013 Volume 52 Issue 14 Pages 1629-1633

DOI https://doi.org/10.2169/internalmedicine.52.0252

Details

Abstract

Autosomal recessive cerebellar ataxias and autosomal recessive hereditary spastic paraplegias are clinically and genetically heterogeneous disorders with diverse neurological and non-neurological features. We herein describe a Japanese patient with a slowly progressive form of ataxia and spastic paraplegia. Using whole exome sequencing, we identified a novel homozygous frameshift mutation in SPG7, encoding paraplegin, in this patient. This is the first report of an SPG7 mutation in the Japanese population. For disorders previously undetected in a particular population, or unrecognized/atypical phenotypes, exome sequencing may facilitate molecular diagnosis.

Corresponding author

Register with J-STAGE for free!