Publications (1)4.51 Total impact
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Article: Novel SPG6 mutation p.A100T in a Japanese family with autosomal dominant form of hereditary spastic paraplegia
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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. © 2006 Movement Disorder SocietyMovement Disorders 08/2006; 21(9):1531 - 1533. · 4.51 Impact Factor
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Institutions
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2006
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Istituto di Cura e Cura a Carattere Scientifico Basilicata
Rionero in Vulture, Basilicate, Italy
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