The SCA17 phenotype can include features of MSA-C, PSP and cognitive impairment
Journal
Parkinsonism and Related Disorders
Journal Volume
13
Journal Issue
4
Pages
246-249
Date Issued
2007
Author(s)
Abstract
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. ? 2006 Elsevier Ltd. All rights reserved.
SDGs
Other Subjects
6 fluorodopa; benserazide plus levodopa; buspirone; carbidopa plus levodopa; ropinirole; adult; article; autonomic dysfunction; case report; cerebrospinal fluid analysis; clinical feature; cognitive defect; differential diagnosis; genetic association; human; male; parkinsonism; phenotype; positron emission tomography; postsynaptic potential; priority journal; progressive supranuclear palsy; Shy Drager syndrome; spinocerebellar ataxia 17; spinocerebellar degeneration; striatonigral degeneration; Brain; Cognition Disorders; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Multiple System Atrophy; Phenotype; Positron-Emission Tomography; Spinocerebellar Ataxias; TATA Box; TATA-Box Binding Protein; Trinucleotide Repeat Expansion
Type
journal article