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Brisk deep‐tendon reflexes as a distinctive phenotype in an argentinean spinocerebellar ataxia type 2 pedigree
Author(s) -
Rosa Alberto L.,
Molina Irma,
Kowaljow Valeria,
Conde Cecilia B.
Publication year - 2006
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.20636
Subject(s) - spinocerebellar ataxia , parkinsonism , reflex , phenotype , ataxia , degenerative disease , neuroscience , medicine , physical medicine and rehabilitation , psychology , central nervous system disease , genetics , pathology , disease , biology , gene
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