The SCA17 phenotype can include features of MSA-C, PSP and cognitive impairment.
Spinocerebellar ataxia (SCA) 17 is a dominant neurodegenerative disorder characterized by ataxia, cognitive decline, dystonia, and parkinsonism. The disease is caused by unstable cytosine-adenine-guanine (CAG) trinucleotide expansion mutation coding for polyglutamine tracts in the TATA box-binding protein (TBP), a general transcription initiation factor. Herein, we report a SCA17 case with a phenotype not previously reported, which consisted of progressive ataxia, autonomic dysfunction, parkinsonism, supranuclear palsy and cognitive impairment. Cerebrospinal fluid study and 18F-dopa PET scanning demonstrated dopamine deficiency and nigrostrital degeneration. This case expands the current phenotype associated with SCA17. SCA17 should be considered in the differential diagnosis of cases resembling multiple system atrophy, especially those with atypical features.
Lin
I-Sheng
IS
Department of Neurology, National Taiwan University Hospital, College of Medicine, National Taiwan University, No 7, Chung-Shan South Road, Taipei 100, Taiwan.
Wu
Ruey-Meei
RM
Lee-Chen
Guey-Jen
GJ
Shan
Din-E
DE
Gwinn-Hardy
Katrina
K
D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology; D003072:Cognition Disorders / Q000209:etiology* / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D008875:Middle Aged; D019578:Multiple System Atrophy / Q000209:etiology* / Q000473:pathology; D010641:Phenotype; D049268:Positron-Emission Tomography / Q000379:methods; D020754:Spinocerebellar Ataxias / Q000150:complications*; D016385:TATA Box; D035181:TATA-Box Binding Protein; D019680:Trinucleotide Repeat Expansion
D035181:TATA-Box Binding Protein; C509817:TBP protein, human