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Novel GFAP mutation in patient with adult-onset Alexander disease presenting with spastic ataxia

✍ Scribed by Hiroyuki Kaneko; Masaki Hirose; Shinichi Katada; Toshiaki Takahashi; Satoshi Naruse; Miyuki Tsuchiya; Tomokatsu Yoshida; Masanori Nakagawa; Osamu Onodera; Masatoyo Nishizawa; Takeshi Ikeuchi

Publisher: John Wiley and Sons
Year: 2009
Tongue: English
Weight: 402 KB
Volume: 24
Category: Article
ISSN: 0885-3185
DOI: 10.1002/mds.22556

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✦ Synopsis

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Cerebrotendinous xanthomatosis patient with jaw opening dystonia, which improves with a sensory geste. Bilteral dysmetria, normal extraocular movements, spastic gait, hyperreflexia, and upgoing toes are present. Achilles tendon xanthomas are demonstrated.

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