Journal
INTERNAL MEDICINE
Volume 58, Issue 5, Pages 719-722Publisher
JAPAN SOC INTERNAL MEDICINE
DOI: 10.2169/internalmedicine.1839-18
Keywords
hereditary spastic paraplegia; SPG5; CYP7BI; frameshift mutation; white matter lesions
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Funding
- Research Committee for Ataxic Disease
- Ministry of Health, Labor and Welfare, Japan, JSPS KAKENHI [JP17K 17772, JP18K07495]
- Ministry of Education, Culture, Sports, Science, and Technology, Japan
- [JP17ek0109078]
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SPG5 is a rare subtype of autosomal recessive hereditary spastic paraplegia caused by a homozygous mutation in the oxysterol 7 alpha-hydroxylase gene, CYP7BI. We describe the first Japanese patient with SPG5 with a novel mutation in the CYP7B1 gene. On exome sequencing, we identified a homozygous frameshift mutation, c.74ldelA, p.K247fs, in own 3 of the CYP7BI gene. The patient showed spastic paraparesis with white matter hyperintensities in the bilateral corona radiata and periventricular and subcortical regions on brain magnetic resonance imaging. The present study expands the mutation spectrum of CYP7B1 and provides an opportunity to study the genotype-phenotype correlation in SPG5.
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