Novel SPG6 mutation p.A100T in a Japanese family with autosomal dominant form of hereditary spastic paraplegia

Satoshi Kaneko, Toshitaka Kawarai, Edwin Yip, Shabnam Salehi-Rad, Christine Sato, Antonio Orlacchio, Giorgio Bernardi, Yan Liang, Hiroshi Hasegawa, Ekaterina Rogaeva, Peter St George-Hyslop

Research output: Contribution to journalArticlepeer-review

Abstract

We describe a Japanese family in which inheritance of a novel mutation p.A100T in SPG6 resulted in an autosomal dominant form of hereditary spastic paraplegia (ADHSP). Clinical investigation showed a pure form of HSP. Our study demonstrates further allelic heterogeneity of SPG6.

Original languageEnglish
Pages (from-to)1531-1533
Number of pages3
JournalMovement Disorders
Volume21
Issue number9
DOIs
Publication statusPublished - Sep 2006

Keywords

  • Hereditary spastic paraplegia
  • Novel missense mutation
  • SPG6

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

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