Spinocerebellar ataxia types 2 and 3 segregating simultaneously in a single family

• Published in: Movement disorders 2006-07, Vol.21 (7), p.1051-1053
• Main Authors: França Jr, Marcondes C., Calcagnotto, Maria E., Da Costa, Jaderson C., Lopes-Cendes, Iscia
• Format: Article
• Language: English
• Subjects: Adult; Ataxin-3; Ataxins; Atrophy; Biological and medical sciences; Brain Stem - pathology; Brazil; Cerebellum - pathology; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; Diagnosis, Differential; DNA Mutational Analysis; Electromyography; Female; Founder Effect; Genetic Testing; Human viral diseases; Humans; Infectious diseases; Machado-Joseph disease; Machado-Joseph Disease - diagnosis; Machado-Joseph Disease - genetics; Medical sciences; Nerve Tissue Proteins - genetics; Neurology; Nuclear Proteins - genetics; Pedigree; Repressor Proteins - genetics; SCA2; SCA3; Spinocerebellar Ataxias - diagnosis; Spinocerebellar Ataxias - genetics; Tomography, X-Ray Computed; Trinucleotide Repeats; Viral diseases; Viral diseases with cutaneous or mucosal lesions and viral diseases of the eye
• ISSN: 0885-3185; 1531-8257
• DOI: 10.1002/mds.20893

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. © 2006 Movement Disorder Society