Phenotypic homogeneity of the Huntington disease-like presentation in a SCA17 family

We describe clinical and genetic analysis of a family with spinocerebellar ataxia 17 (SCA17) presenting with a Huntington disease-like (HDL) syndrome. Clinically diagnosed, HD is genetically heterogeneous. Differential diagnosis includes SCA17. However, SCA17 HDL presentation has been observed only...

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Veröffentlicht in:	Neurology 2006-11, Vol.67 (9), p.1701-1703
Hauptverfasser:	Schneider, S A, van de Warrenburg, B P C, Hughes, T D, Davis, M, Sweeney, M, Wood, N, Quinn, N P, Bhatia, K P
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Atrophy - pathology Atrophy - physiopathology Brain - pathology Brain - physiopathology Diagnosis, Differential DNA Mutational Analysis Female Genetic Predisposition to Disease - genetics Genetic Testing Genotype Humans Huntington Disease - diagnosis Inheritance Patterns Male Middle Aged Mutation - genetics Pedigree Phenotype Spinocerebellar Ataxias - diagnosis Spinocerebellar Ataxias - genetics Spinocerebellar Ataxias - physiopathology Syndrome TATA-Box Binding Protein - genetics Trinucleotide Repeat Expansion - genetics
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Zusammenfassung:	We describe clinical and genetic analysis of a family with spinocerebellar ataxia 17 (SCA17) presenting with a Huntington disease-like (HDL) syndrome. Clinically diagnosed, HD is genetically heterogeneous. Differential diagnosis includes SCA17. However, SCA17 HDL presentation has been observed only sporadically or in solitary individuals within a family. HDL phenotypic homogeneity in SCA17 has not been described. SCA17 can present with a HDL syndrome in multiple family members.
ISSN:	0028-3878 1526-632X
DOI:	10.1212/01.wnl.0000242740.01273.00