| pubmed-article:18325672 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:18325672 | lifeskim:mentions | umls-concept:C0424972 | lld:lifeskim |
| pubmed-article:18325672 | lifeskim:mentions | umls-concept:C0087012 | lld:lifeskim |
| pubmed-article:18325672 | lifeskim:mentions | umls-concept:C0013421 | lld:lifeskim |
| pubmed-article:18325672 | lifeskim:mentions | umls-concept:C0017337 | lld:lifeskim |
| pubmed-article:18325672 | lifeskim:mentions | umls-concept:C0752125 | lld:lifeskim |
| pubmed-article:18325672 | pubmed:issue | 2 | lld:pubmed |
| pubmed-article:18325672 | pubmed:dateCreated | 2008-3-21 | lld:pubmed |
| pubmed-article:18325672 | pubmed:abstractText | Spinocerebellar ataxia type 7 is a rare autosomal dominant cerebellar ataxia (ADCA). Herein, we describe the molecular and clinical findings in patients within six generations of a large Chinese family with spinocerebellar ataxia. To identify the genetic cause(s), 4 affected patients and 26 asymptomatic relatives were recruited for the study. Molecular screening of the SCA1 and SCA7 genes was carried out by subcloning and direct PCR-sequencing methods. Both neurological and ophthalmic examinations were performed to investigate the clinical characteristics of the disease. The patients had typical cerebellar ataxia, achromatopsia and macular degeneration, and displayed a rare phenotype manifesting as a combination of cerebellar ataxia and craniocervical dystonia. Mutational analysis of the SCA7 genes demonstrated expanded CAG-repeats in the four patients. In conclusion, we identified expanded CAG-repeats in the SCA7 gene within members of a large Chinese family with spinocerebellar ataxia. The defined phenotypic characteristics of the patients may be helpful for clinical diagnosis and genetic typing of new patients. | lld:pubmed |
| pubmed-article:18325672 | pubmed:language | eng | lld:pubmed |
| pubmed-article:18325672 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18325672 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:18325672 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18325672 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:18325672 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:18325672 | pubmed:month | Mar | lld:pubmed |
| pubmed-article:18325672 | pubmed:issn | 0304-3940 | lld:pubmed |
| pubmed-article:18325672 | pubmed:author | pubmed-author:OrrV BVB | lld:pubmed |
| pubmed-article:18325672 | pubmed:author | pubmed-author:JinZi-BingZB | lld:pubmed |
| pubmed-article:18325672 | pubmed:author | pubmed-author:XieYan-ChenYC | lld:pubmed |
| pubmed-article:18325672 | pubmed:author | pubmed-author:ZhengJia-Yong... | lld:pubmed |
| pubmed-article:18325672 | pubmed:author | pubmed-author:JinYan-HuiYH | lld:pubmed |
| pubmed-article:18325672 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:18325672 | pubmed:day | 28 | lld:pubmed |
| pubmed-article:18325672 | pubmed:volume | 434 | lld:pubmed |
| pubmed-article:18325672 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:18325672 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:18325672 | pubmed:pagination | 230-3 | lld:pubmed |
| pubmed-article:18325672 | pubmed:dateRevised | 2009-11-19 | lld:pubmed |
| pubmed-article:18325672 | pubmed:meshHeading | pubmed-meshheading:18325672... | lld:pubmed |
| pubmed-article:18325672 | pubmed:meshHeading | pubmed-meshheading:18325672... | lld:pubmed |
| pubmed-article:18325672 | pubmed:meshHeading | pubmed-meshheading:18325672... | lld:pubmed |
| pubmed-article:18325672 | pubmed:meshHeading | pubmed-meshheading:18325672... | lld:pubmed |
| pubmed-article:18325672 | pubmed:meshHeading | pubmed-meshheading:18325672... | lld:pubmed |
| pubmed-article:18325672 | pubmed:meshHeading | pubmed-meshheading:18325672... | lld:pubmed |
| pubmed-article:18325672 | pubmed:meshHeading | pubmed-meshheading:18325672... | lld:pubmed |
| pubmed-article:18325672 | pubmed:meshHeading | pubmed-meshheading:18325672... | lld:pubmed |
| pubmed-article:18325672 | pubmed:meshHeading | pubmed-meshheading:18325672... | lld:pubmed |
| pubmed-article:18325672 | pubmed:meshHeading | pubmed-meshheading:18325672... | lld:pubmed |
| pubmed-article:18325672 | pubmed:meshHeading | pubmed-meshheading:18325672... | lld:pubmed |
| pubmed-article:18325672 | pubmed:meshHeading | pubmed-meshheading:18325672... | lld:pubmed |
| pubmed-article:18325672 | pubmed:meshHeading | pubmed-meshheading:18325672... | lld:pubmed |
| pubmed-article:18325672 | pubmed:meshHeading | pubmed-meshheading:18325672... | lld:pubmed |
| pubmed-article:18325672 | pubmed:meshHeading | pubmed-meshheading:18325672... | lld:pubmed |
| pubmed-article:18325672 | pubmed:meshHeading | pubmed-meshheading:18325672... | lld:pubmed |
| pubmed-article:18325672 | pubmed:year | 2008 | lld:pubmed |
| pubmed-article:18325672 | pubmed:articleTitle | Trinucleotide expansions in the SCA7 gene in a large family with spinocerebellar ataxia and craniocervical dystonia. | lld:pubmed |
| pubmed-article:18325672 | pubmed:affiliation | Department of Neurology, Second Affiliated Hospital of Wenzhou Medical College, Zhejiang 325000, China. | lld:pubmed |
| pubmed-article:18325672 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:18325672 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
| entrez-gene:6314 | entrezgene:pubmed | pubmed-article:18325672 | lld:entrezgene |
| http://linkedlifedata.com/r... | entrezgene:pubmed | pubmed-article:18325672 | lld:entrezgene |
| lhgdn:association:47753 | lhgdn:found_in | pubmed-article:18325672 | lld:lhgdn |
