Non-Ataxic Phenotypes of SCA8 Mimicking Amyotrophic Lateral Sclerosis and Parkinson Disease.
- Author:
Ji Sun KIM
1
;
Tae Ok SON
;
Jinyoung YOUN
;
Chang Seok KI
;
Jin Whan CHO
Author Information
- Publication Type:Case Report
- Keywords: Spinocerebellar ataxia 8; phenotype; Parkinson's disease; Amyotrophic lateral sclerosis; clinical heterogeneity
- MeSH: Amyotrophic Lateral Sclerosis*; Atrophy; Brain; Cerebellar Ataxia; Cerebellum; Gait; Humans; Neurodegenerative Diseases; Neurons; Parkinson Disease*; Parkinsonian Disorders; Phenotype*; Siblings; Spinocerebellar Ataxias; Spinocerebellar Degenerations; Trinucleotide Repeats
- From:Journal of Clinical Neurology 2013;9(4):274-279
- CountryRepublic of Korea
- Language:English
- Abstract: BACKGROUND: Spinocerebellar ataxia (SCA) type 8 (SCA8) is an inherited neurodegenerative disorder caused by the expansion of untranslated CTA/CTG triplet repeats on 13q21. The phenomenology of SCA8 is relatively varied when compared to the other types of SCAs and its spectrum is not well established. CASE REPORT: Two newly detected cases of SCA8 with the nonataxic phenotype and unusual clinical manifestations such as dopaminergic-treatment-responsive parkinsonism and amyotrophic lateral sclerosis (ALS) are described herein. Family A expressed good dopaminergic treatment-responsive parkinsonism as an initial manifestation and developed mild cerebellar ataxia with additional movements, including dystonic gait and unusual oscillatory movement of the trunk, during the disease course. The proband of family B presented as probable ALS with cerebellar atrophy on brain MRI, with a positive family history (a brother with typical cerebellar ataxia) and genetic confirmation for SCA8. CONCLUSIONS: Our findings support that the non-ataxic phenotypes could be caused by a mutation of the SCA8 locus which might affect neurons other than the cerebellum.
