RESEARCH: New SPG6/Atlastin mutation found in Japan

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Novel SPG6 mutation p.A100T in a Japanese family with

autosomal dominant form of hereditary spastic

paraplegia.

Kaneko S, Kawarai T, Yip E, Salehi-Rad S, Sato C,

Orlacchio A, Bernardi G, Liang Y, Hasegawa H, Rogaeva

E, St -Hyslop P.

Department of Neurology, Kitano Hospital, The Tazuke

Kofukai Medical Institute, Osaka, Japan.

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. © 2006 Movement

Disorder Society.

SOURCE: Mov Disord. 2006 Jun 22; [Epub ahead of

print] http://tinyurl.com/f23yk