Rinsho Shinkeigaku (Clinical Neurology)

Symposium 05

Hereditary spastic paraplegia: up to date

Yoshihisa Takiyama, M.D., Ph.D.1)

1)Department of Neurology, Interdisciplinary Graduate School of Medicine and Engineering, University of Yamanashi

Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous group of neurodegenerative disorders that are clinically characterized by progressive spasticity and weakness of the lower limbs. HSP genetic loci are designated SPG1-72 in order of their discovery. In 206 Japanese families with autosomal dominant HSP, SPG4 was the most common form, accounting for 38%, followed by SPG3A (5%), SPG31 (5%), SPG10 (2%), and SPG8 (1%). We have identified novel mutations in the C12orf65 gene and the LYST gene in several Japanese families with autosomal recessive HSP. JASPAC will facilitate gene discovery and mechanistic understanding of HSP. The future challenge will be the establishment of treatment of HSP.
Full Text of this Article in Japanese PDF (366K)

(CLINICA NEUROL, 54: 1009|1011, 2014)
key words: hereditary spastic paraplegia, JASPAC, gene analysis

(Received: 21-May-14)