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

Authors

  • Satoshi Kaneko MD, PhD,

    1. Department of Neurology, Kitano Hospital, The Tazuke Kofukai Medical Institute, Osaka, Japan
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  • Toshitaka Kawarai MD,

    Corresponding author
    1. Centre for Research in Neurodegenerative Diseases, Department of Medicine, University of Toronto, Toronto, Ontario, Canada
    • Centre for Neurodegenerative Diseases, Department of Medicine, University of Toronto, 6 Queen's Park Crescent West, Toronto, Ontario, Canada, M5S 3H2
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  • Edwin Yip,

    1. Centre for Research in Neurodegenerative Diseases, Department of Medicine, University of Toronto, Toronto, Ontario, Canada
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  • Shabnam Salehi-Rad BSc,

    1. Centre for Research in Neurodegenerative Diseases, Department of Medicine, University of Toronto, Toronto, Ontario, Canada
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  • Christine Sato BSc,

    1. Centre for Research in Neurodegenerative Diseases, Department of Medicine, University of Toronto, Toronto, Ontario, Canada
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  • Antonio Orlacchio MD, PhD,

    1. Laboratorio di Neurogenetica, Centro Europeo di Ricerca sul Cervello (CERC) - Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Santa Lucia, Rome, Italy
    2. Dipartimento di Neuroscienze, Università di Roma “Tor Vergata,” Policlinico “Tor Vergata” (Neurologia), Rome, Italy
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  • Giorgio Bernardi MD,

    1. Laboratorio di Neurogenetica, Centro Europeo di Ricerca sul Cervello (CERC) - Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Santa Lucia, Rome, Italy
    2. Dipartimento di Neuroscienze, Università di Roma “Tor Vergata,” Policlinico “Tor Vergata” (Neurologia), Rome, Italy
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  • Yan Liang MD,

    1. Centre for Research in Neurodegenerative Diseases, Department of Medicine, University of Toronto, Toronto, Ontario, Canada
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  • Hiroshi Hasegawa MD,

    1. Centre for Research in Neurodegenerative Diseases, Department of Medicine, University of Toronto, Toronto, Ontario, Canada
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  • Ekaterina Rogaeva PhD,

    1. Centre for Research in Neurodegenerative Diseases, Department of Medicine, University of Toronto, Toronto, Ontario, Canada
    2. Department of Medicine, Division of Neurology, University of Toronto; Toronto, Ontario, Canada
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  • Peter St George-Hyslop MD, FRCP(C)

    1. Centre for Research in Neurodegenerative Diseases, Department of Medicine, University of Toronto, Toronto, Ontario, Canada
    2. Department of Medicine, Division of Neurology, University Health Network; Toronto, Ontario, Canada
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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 Society

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