Linked Life Data

11082815

Source:http://linkedlifedata.com/resource/pubmed/id/11082815

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
10
pubmed:dateCreated
2001-1-11
pubmed:abstractText
Spinocerebellar ataxia type 7 (SCA7) belongs to the category of autosomal dominant cerebellar ataxias (ADCA). The clinical picture is characterised by progressive ataxia and macular degeneration. Other common signs are slow saccades, external ophthalmoplegia, and pyramidal tract signs. The disease is caused by the expansion of an unstable CAG trinucleotide repeat in the gene for ataxin 7 on chromosome 3. SCA7 is a rare disorder. The first case in Germany was described only recently. We report two additional patients, father and son, with the molecular genetic diagnosis of SCA7. The father carries a trinucleotide expansion of 42 CAG repeats, the son 51. Normal alleles range from 7 to 35 CAG repeats. Both patients show the typical picture with progressive ataxia and macular degeneration. We found a pronounced anticipation (earlier disease onset in subsequent generations), which is highly characteristic of CAG repeat disorders.
pubmed:language
ger
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
0028-2804
pubmed:author
pubmed:issnType
Print
pubmed:volume
71
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
835-8
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
2000
pubmed:articleTitle
[Typical anticipation in type 7 spinocerebellar ataxia].
pubmed:affiliation
Neurologische Klinik, Klinikum Grosshadern, Ludwig-Maximilians-Universität, München.
pubmed:publicationType
Journal Article, English Abstract, Case Reports