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 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.
Schneider
S A
SA
Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, Queen Square, London, UK.
van de Warrenburg
B P C
BP
Hughes
T D
TD
Davis
M
M
Sweeney
M
M
Wood
N
N
Quinn
N P
NP
Bhatia
K P
KP
D000328:Adult; D001284:Atrophy / Q000473:pathology / Q000503:physiopathology; D001921:Brain / Q000473:pathology / Q000503:physiopathology; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D006816:Huntington Disease / Q000175:diagnosis*; D040582:Inheritance Patterns; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D010641:Phenotype; D020754:Spinocerebellar Ataxias / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology; D013577:Syndrome; D035181:TATA-Box Binding Protein / Q000235:genetics*; D019680:Trinucleotide Repeat Expansion / Q000235:genetics
D035181:TATA-Box Binding Protein; C509817:TBP protein, human