Journal
INTERNAL MEDICINE
Volume 52, Issue 14, Pages 1629-1633Publisher
JAPAN SOC INTERNAL MEDICINE
DOI: 10.2169/internalmedicine.52.0252
Keywords
cerebellar ataxia; spastic paraplegia; exome; SPG7; paraplegin
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Funding
- Ministry of Health, Labour and Welfare
- Japan Science and Technology Agency
- Strategic Research Program for Brain Sciences
- Ministry of Education, Culture, Sports, Science and Technology of Japan
- Japan Society for the Promotion of Science
- Strategic Research Promotion of Yokohama City University
- Japan Epilepsy Research Foundation
- Takeda Science Foundation
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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.
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