title: Brisk deep-tendon reflexes as a distinctive phenotype in an Argentinean spinocerebellar ataxia type 2 pedigree.
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.
authors.affiliation: Laboratorio de Neurogenética, Instituto de Investigación Médica Mercedes y Martín Ferreyra, INIMEC-CONICET, Argentina. arosa@wsu.edu
authors.forename: Alberto L
authors.initials: AL
authors.lastname: Rosa
authors.forename: Irma
authors.initials: I
authors.lastname: Molina
authors.forename: Valeria
authors.initials: V
authors.lastname: Kowaljow
authors.forename: Cecilia B
authors.initials: CB
authors.lastname: Conde
mesh_terms: D000328:Adult; D000368:Aged; D000465:Algorithms; D000483:Alleles; D001118:Argentina; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005260:Female; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009460:Neurologic Examination; D010375:Pedigree; D010641:Phenotype; D012026:Reflex, Stretch / Q000235:genetics*; D020754:Spinocerebellar Ataxias / Q000175:diagnosis / Q000235:genetics*; D013223:Statistics as Topic
chemical_list: D008565:Membrane Proteins; C084839:thymic shared antigen-1