Source:http://linkedlifedata.com/resource/pubmed/id/17254003
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
2
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pubmed:dateCreated |
2007-1-26
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pubmed:abstractText |
Infantile spinocerebellar ataxia type 7 (SCA7) is phenotypically different from the child-onset and adult-onset cases, presenting as a multisystem disorder associated with pathologically large CAG trinucleotide repeat sequences. We describe a case study of a male who presented at 5 months of age with marked motor delay, failure to thrive, and a patent ductus arteriosus. He later developed renal failure of uncertain aetiology. The infant became progressively hypotonic, and cardiac and renal function deteriorated further; he died at the age of 11 months of multisystem failure. Family history revealed a diagnosis of SCA7 in the infant's father, paternal grandfather, and aunt. DNA analysis confirmed an expanded trinucleotide repeat in the SCA7 locus of about 240 repeats, suggesting a diagnosis of infantile SCA7. Striking anticipation is seen in SCA7, particularly with paternal transmission. The underlying pathophysiological processes seem to involve alteration in transcriptional regulation and a selective neuronal vulnerability to the widely distributed abnormal protein product. This case report reviews the current literature relating to infantile SCA7 and raises awareness of this rare but important phenotype.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Feb
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pubmed:issn |
0012-1622
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
49
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
140-3
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:17254003-Cardiomegaly,
pubmed-meshheading:17254003-Humans,
pubmed-meshheading:17254003-Infant,
pubmed-meshheading:17254003-Male,
pubmed-meshheading:17254003-Muscle Hypotonia,
pubmed-meshheading:17254003-Nerve Tissue Proteins,
pubmed-meshheading:17254003-Renal Insufficiency,
pubmed-meshheading:17254003-Trinucleotide Repeat Expansion
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pubmed:year |
2007
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pubmed:articleTitle |
Massive SCA7 expansion detected in a 7-month-old male with hypotonia, cardiomegaly, and renal compromise.
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pubmed:affiliation |
Paediatric Neurosciences, Guy's & St Thomas' NHS Foundation Trust, London, UK.
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pubmed:publicationType |
Journal Article,
Case Reports
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