Linked Life Data

17254003

Source:http://linkedlifedata.com/resource/pubmed/id/17254003

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2007-1-26
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.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
0012-1622
pubmed:author
pubmed:issnType
Print
pubmed:volume
49
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
140-3
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed:year
2007
pubmed:articleTitle
Massive SCA7 expansion detected in a 7-month-old male with hypotonia, cardiomegaly, and renal compromise.
pubmed:affiliation
Paediatric Neurosciences, Guy's & St Thomas' NHS Foundation Trust, London, UK.
pubmed:publicationType
Journal Article, Case Reports