Letters to the editor
Morphological abnormalities of hepatic mitochondria in two patients with spinocerebellar ataxia type 7
| The first 150 words of the full text of this article appear below. |
The dominantly inherited spinocerebellar ataxias (ADCAs) are a clinically and genetically heterogenous group of neurodegenerative disorders characterised by premature neuronal loss in the cerebellum. The cardinal manifestations are ataxia, dysarthia, dysmetria, and intention tremor. These clinical findings are associated with varying degrees of other neurological symptoms due to degeneration of other components of the nervous system. The similarity in the clinical presentation of the ADCAs to the mitochondrial cytopathies is widely recognised. Ptosis, ophthalmoplegia, pyramidal and extrapyramidal symptoms, optic atrophy, retinopathy, dementia, and peripheral neuropathy may variably occur in both disorders. Patients with an ADCA are therefore often investigated to exclude a mitochondrial disease.
The ADCAs are divided into three groups (ADCA I, II, III) on the basis
of associated findings.1 ADCA II is characterised by the
presence of a retinopathy.2 It is caused by mutations (unstable trinucleotide expansion) in the coding region in a single gene, SCA7, on the
CiteULike 
Complore 
Connotea 
Del.icio.us 
Digg 
Reddit 
Technorati What's this?
- Full Text
- Full Text (PDF)
- Submit a response
- Alert me when this article is cited
- Alert me when eLetters are posted
- Alert me if a correction is posted
Services
- Email this link to a friend
- Similar articles in this journal
- Similar articles in PubMed
- Add article to my folders
- Download to citation manager
- Request Permissions
Citing Articles
Google Scholar
PubMed
Bookmark with
Register for free content
The full back archive is now available for all BMJ Journals. Institutional subscribers may access the entire archive as part of their subscription. Personal subscribers will also have access to all content when logged in. Non-subscribers who register have free access to all articles published before 2006 right back to volume 1 issue 1. Register here to access the free archive of all BMJ Journals.
Don't forget to sign up for content alerts so you keep up to date with all the articles as they are published.
