Document Detail

Spinocerebellar ataxia type 17 (SCA17): oculomotor phenotype and clinical characterization of 15 Italian patients.
MedLine Citation:
PMID:  17934876     Owner:  NLM     Status:  MEDLINE    
SCA17 is a rare type of autosomal dominant spinocerebellar ataxia caused by a CAG/CAA expansion in the gene encoding the TATA-binding protein (TBP). We screened for triplet expansion in the TBP gene 110 subjects with progressive cerebellar ataxia and 94 subjects with Huntington-like phenotype negative at specific molecular tests. SCA17 mutation-positive subjects were found in both groups of patients. Expanded alleles with > or = 44 CAG/CAA repeats were identified in 11 individuals and in 4 non-symptomatic relatives. Eleven de novo diagnosed patients and four patients previously reported underwent extensive clinical, neuroradiological and oculographic examination. Cerebellar signs and symptoms were present in all cases; 80% of the patients had mild to severe cognitive deficits; 66% of patients showed choreic movements; pyramidal signs, bradykinesia and dystonia were observed in approx 50% of the cases. MRI demonstrated cortical and cerebellar atrophy in all patients, whereas neurophysiological examination excluded signs of peripheral nervous system involvement. Oculographic examinations were performed in 9 out of 15 patients and showed a distinct pattern of oculomotor abnormalities, characterized by impairment of smooth pursuit, defects in the saccade accuracy, normal saccade velocity, hyperreflexia of vestibuloocular reflexes, and absence of nystagmus. In summary, this study presents one of the largest series of SCA17 patients in Europe. In our group of patients, SCA17 represents the third most frequent SCA genotype. Our clinical data confirm the large variability in SCA17 phenotypic presentation, and indicate that a peculiar combination of neuroradiological, electrophysiological and oculomotor findings is recognizable in SCA17.
Caterina Mariotti; Dario Alpini; Roberto Fancellu; Paola Soliveri; Marina Grisoli; Sabrina Ravaglia; Carlo Lovati; Vincenza Fetoni; Giorgio Giaccone; Alessia Castucci; Franco Taroni; Cinzia Gellera; Stefano Di Donato
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2007-10-15
Journal Detail:
Title:  Journal of neurology     Volume:  254     ISSN:  0340-5354     ISO Abbreviation:  J. Neurol.     Publication Date:  2007 Nov 
Date Detail:
Created Date:  2007-11-20     Completed Date:  2008-04-04     Revised Date:  2009-11-03    
Medline Journal Info:
Nlm Unique ID:  0423161     Medline TA:  J Neurol     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  1538-46     Citation Subset:  IM    
Division of Biochemistry and Genetics, Fondazione IRCCS - Istituto Neurologico, C. Besta, Milan, Italy.
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MeSH Terms
DNA Mutational Analysis / methods
Italy / epidemiology
Middle Aged
Mutation / genetics*
Nystagmus, Physiologic / physiology
Ocular Motility Disorders / etiology*,  pathology
Reflex, Vestibulo-Ocular / genetics,  physiology
Spinocerebellar Ataxias / complications*,  genetics*,  pathology
TATA-Box Binding Protein / genetics*
Trinucleotide Repeat Expansion*
Reg. No./Substance:
0/TATA-Box Binding Protein; 0/TBP protein, human

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