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Brisk deep-tendon reflexes as a distinctive phenotype in an argentinean spinocerebellar ataxia type 2 pedigree

Authors

  • Alberto L. Rosa MD, PhD,

    Corresponding author
    1. Laboratorio de Neurogenética, Instituto de Investigación Médica Mercedes y Martín Ferreyra, INIMEC-CONICET, Argentina
    2. Departamento de Neurología, Hospital de Niños de la Santísima Trinidad, Córdoba, Argentina
    3. Health Research and Education Center, Washington State University, Spokane, Washington, USA
    • Washington State University, P.O. Box 1495, Spokane, WA 99210
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  • Irma Molina MD,

    1. Departamento de Neurología, Hospital de Niños de la Santísima Trinidad, Córdoba, Argentina
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  • Valeria Kowaljow MS,

    1. Laboratorio de Neurogenética, Instituto de Investigación Médica Mercedes y Martín Ferreyra, INIMEC-CONICET, Argentina
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  • Cecilia B. Conde PhD

    1. Laboratorio de Neurogenética, Instituto de Investigación Médica Mercedes y Martín Ferreyra, INIMEC-CONICET, Argentina
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Abstract

Slow saccades, postural/intention tremor, peripheral neuropathy, and decreased deep-tendon reflexes are valuable neurological signs for clinical suspicion of spinocerebellar ataxia type 2 (SCA2). We report the presence of abnormally brisk deep-tendon reflexes in nonsymptomatic carriers and mildly and severely affected subjects of a large Argentinean SCA2 pedigree. The identification of this distinctive SCA2 phenotype in an entire pedigree reinforces the current concept that clinical algorithms are of limited value as indicators for genetic testing in SCA. Combined with published pedigrees of SCA2 manifesting as levodopa-responsive parkinsonism, this finding suggests that modifier genes could influence the clinical phenotype of SCA2. © 2005 Movement Disorder Society

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