Document Detail

Spinocerebellar ataxia type 2 (SCA 2) in an infant with extreme CAG repeat expansion.
MedLine Citation:
PMID:  9779806     Owner:  NLM     Status:  MEDLINE    
Autosomal dominant cerebellar ataxias are a heterogeneous group of neurodegenerative disorders that generally present in adulthood. Spinocerebellar ataxia type 2 typically presents with progressive cerebellar symptoms, slow ocular saccades, and peripheral neuropathy. The onset of symptoms is usually between 20 and 40 years. We describe an infant who presented with neonatal hypotonia, developmental delay, and dysphagia. Ocular findings of retinitis pigmentosa were noted at 10 months. Her father had mild spinocerebellar ataxia first noted at age 22 years. Molecular studies of the SCA2 gene showed a CAG expansion of 43 repeats in the father and an extreme CAG repeat expansion of more than 200 in the baby. Our report expands the known phenotype and genotype of SCA2. Testing for dominant ataxias should be included in the evaluation of infants with nonspecific progressive neurologic symptoms and retinitis pigmentosa, especially in cases with a positive family history for spinocerebellar ataxia.
D Babovic-Vuksanovic; K Snow; M C Patterson; V V Michels
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics     Volume:  79     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1998 Oct 
Date Detail:
Created Date:  1999-06-02     Completed Date:  1999-06-02     Revised Date:  2005-11-17    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  383-7     Citation Subset:  IM    
Department of Medical Genetics, Mayo Clinic and Mayo Foundation, Rochester, Minnesota 55905, USA.
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MeSH Terms
Child, Preschool
DNA / analysis
Developmental Disabilities / genetics,  pathology
Fatal Outcome
Genes, Dominant / genetics
Nerve Tissue Proteins
Polymerase Chain Reaction
Proteins / genetics*
Retinitis Pigmentosa / genetics,  pathology
Spinocerebellar Degenerations / genetics*,  pathology*
Trinucleotide Repeat Expansion / genetics*
Reg. No./Substance:
0/Nerve Tissue Proteins; 0/Proteins; 0/SCA2 protein; 9007-49-2/DNA

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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