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

doi:10.1002/mds.21005

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

Fondazione Santa Lucia

Research output: Contribution to journal › Article › peer-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 language	English
Pages (from-to)	1531-1533
Number of pages	3
Journal	Movement Disorders
Volume	21
Issue number	9
DOIs	https://doi.org/10.1002/mds.21005
Publication status	Published - Sep 2006

Keywords

Hereditary spastic paraplegia
Novel missense mutation
SPG6

ASJC Scopus subject areas

Clinical Neurology
Neuroscience(all)

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10.1002/mds.21005

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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.",

keywords = "Hereditary spastic paraplegia, Novel missense mutation, SPG6",

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

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AU - Kaneko, Satoshi

AU - Kawarai, Toshitaka

AU - Yip, Edwin

AU - Salehi-Rad, Shabnam

AU - Sato, Christine

AU - Orlacchio, Antonio

AU - Bernardi, Giorgio

AU - Liang, Yan

AU - Hasegawa, Hiroshi

AU - Rogaeva, Ekaterina

AU - St George-Hyslop, Peter

PY - 2006/9

Y1 - 2006/9

N2 - 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.

AB - 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.

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KW - Novel missense mutation

KW - SPG6

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

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

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