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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1-2
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pubmed:dateCreated |
2007-12-7
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pubmed:abstractText |
Spinocerebellar ataxias are a group of autosomal dominant cerebellar degenerative disorders, which are characterized by clinical and genetic variability. Spinocerebellar ataxia type 7 (SCA7) is less variable in clinical presentation than other SCAs. We present a pediatric patient with 13 and 70 trinucleotide CAG repeats within SCA7 gene and no family history, whose presentation mimicked Kearns-Sayre syndrome (KSS). We review the differential diagnosis of cerebellar ataxia with vision loss secondary to retinal pigmentary dystrophy. This paper supports concept of a desirable clinical diagnosis to avoid multiple genetic or invasive testing in children with neurodegenerative disorders.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jan
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pubmed:issn |
0022-510X
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:day |
15
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pubmed:volume |
264
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
173-6
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pubmed:dateRevised |
2009-11-19
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pubmed:meshHeading |
pubmed-meshheading:17720198-Adolescent,
pubmed-meshheading:17720198-Blindness,
pubmed-meshheading:17720198-Cerebellum,
pubmed-meshheading:17720198-DNA Mutational Analysis,
pubmed-meshheading:17720198-Deglutition Disorders,
pubmed-meshheading:17720198-Diagnosis, Differential,
pubmed-meshheading:17720198-Diagnostic Errors,
pubmed-meshheading:17720198-Disease Progression,
pubmed-meshheading:17720198-Electroretinography,
pubmed-meshheading:17720198-Fatal Outcome,
pubmed-meshheading:17720198-Gait Disorders, Neurologic,
pubmed-meshheading:17720198-Genetic Markers,
pubmed-meshheading:17720198-Humans,
pubmed-meshheading:17720198-Kearns-Sayre Syndrome,
pubmed-meshheading:17720198-Magnetic Resonance Imaging,
pubmed-meshheading:17720198-Male,
pubmed-meshheading:17720198-Nerve Tissue Proteins,
pubmed-meshheading:17720198-Pons,
pubmed-meshheading:17720198-Retinitis Pigmentosa,
pubmed-meshheading:17720198-Spinocerebellar Ataxias,
pubmed-meshheading:17720198-Trinucleotide Repeats
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pubmed:year |
2008
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pubmed:articleTitle |
Spinocerebellar ataxia type 7 mimicking Kearns-Sayre syndrome: a clinical diagnosis is desirable.
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pubmed:affiliation |
Section of Child Neurology, Department of Pediatrics, Temple University School of Medicine, Philadelphia, Pennsylvania 19140, USA. suryangupta@rediffmail.com
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pubmed:publicationType |
Journal Article,
Case Reports
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