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Clinical and genetic study of a Brazilian family with spastic paraplegia (SPG6 locus)

Authors

  • Renato P. Munhoz MD,

    1. Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, PR, Brazil
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    • Drs. Munhoz and Kawarai contributed equally to this work.

  • Toshitaka Kawarai MD,

    1. Centre for Research in Neurodegenerative Diseases, Tanz Neuroscience Building, University of Toronto, Toronto, Ontario, Canada
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    • Drs. Munhoz and Kawarai contributed equally to this work.

  • Helio A. Teive MD, PhD,

    1. Movement Disorders Unit, Neurology Service, Hospital de Clínicas, Federal University of Paraná, Curitiba, PR, Brazil
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  • Salmo Raskin MD, PhD,

    1. Genetika Laboratory, Curitiba, PR, Brazil
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  • Christine Sato BSc,

    1. Centre for Research in Neurodegenerative Diseases, Tanz Neuroscience Building, University of Toronto, Toronto, Ontario, Canada
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  • Yan Liang MD,

    1. Centre for Research in Neurodegenerative Diseases, Tanz Neuroscience Building, University of Toronto, Toronto, Ontario, Canada
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  • Peter H. St. George-Hyslop MD, FRCP(C),

    1. Centre for Research in Neurodegenerative Diseases, Tanz Neuroscience Building, University of Toronto, Toronto, Ontario, Canada
    2. Toronto Western Hospital Research Institute, Toronto Western Hospital, University of Toronto, Toronto, Ontario, Canada
    3. Department of Medicine, Division of Neurology, University of Toronto, Toronto, Ontario, Canada
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  • Ekaterina Rogaeva PhD

    Corresponding author
    1. Centre for Research in Neurodegenerative Diseases, Tanz Neuroscience Building, University of Toronto, Toronto, Ontario, Canada
    2. Department of Medicine, Division of Neurology, 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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Abstract

We describe a Brazilian family in which inheritance of a G106R mutation in the SPG6 gene (also know as NIPA1) resulted in an autosomal dominant form of hereditary spastic paraplegia (ADHSP). Clinical investigations indicated that this family has a pure form of spastic paraplegia. All patients presented with gait difficulty in their twenties, progressing to frank spastic paraplegia during the next decade. Our report further supports evidence that mutations in SPG6 cause ADHSP. © 2005 Movement Disorder Society

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