Spinocerebellar ataxia types 2 and 3 segregating simultaneously in a single family.
Spinocerebellar ataxia (SCA) types 2 and 3 are autosomal-dominant neurodegenerative disorders caused by mutations in two different genes. We identified mutations for SCA2 and SCA3 segregating simultaneously in a single Brazilian family. The index patient had SCA2, whereas her two second-degree cousins had SCA3. Disease was more rapidly progressive in the SCA2 patient, who presented severe brainstem and pancerebellar atrophy, as opposed to the two SCA3 patients, who had only mild cerebellar vermian atrophy. In such situations, molecular confirmation of all patients may avoid misdiagnosis of SCA subtypes and eventual errors in predictive testing of unaffected family members.
França
Marcondes C
MC
Department of Neurology, Universidade Estadual de Campinas-UNICAMP, Campinas, Brazil.
Calcagnotto
Maria E
ME
da Costa
Jaderson C
JC
Lopes-Cendes
Iscia
I
D000328:Adult; D000067699:Ataxin-3; D000067528:Ataxins; D001284:Atrophy; D001933:Brain Stem / Q000473:pathology; D001938:Brazil; D002531:Cerebellum / Q000473:pathology; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D004576:Electromyography; D005260:Female; D018703:Founder Effect; D005820:Genetic Testing; D006801:Humans; D017827:Machado-Joseph Disease / Q000175:diagnosis / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D010375:Pedigree; D012097:Repressor Proteins / Q000235:genetics*; D020754:Spinocerebellar Ataxias / Q000175:diagnosis / Q000235:genetics*; D014057:Tomography, X-Ray Computed; D018911:Trinucleotide Repeats
D000067528:Ataxins; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins; D012097:Repressor Proteins; C092341:ATXN3 protein, human; D000067699:Ataxin-3