Why is SCA12 different from other SCAs?
| Autor: | Elizabeth O'Hearn, Susan E. Holmes, R L Margolis |
|---|---|
| Rok vydání: | 2003 |
| Předmět: |
Male
Biology medicine.disease_cause PPP2R2B Cerebellar Cortex Phosphoprotein Phosphatases Genetics medicine Humans Spinocerebellar Ataxias Allele Protein Structure Quaternary Molecular Biology Gene Alleles Genetics (clinical) Cerebral Cortex Family Health Mutation Protein phosphatase 2 medicine.disease Magnetic Resonance Imaging Pedigree Spinocerebellar ataxia Female Cerebellar atrophy Trinucleotide Repeat Expansion Trinucleotide repeat expansion |
| Zdroj: | Cytogenetic and Genome Research. 100:189-197 |
| ISSN: | 1424-859X 1424-8581 |
| DOI: | 10.1159/000072854 |
| Popis: | Spinocerebellar ataxia type 12 (SCA12), now described in European-American and Asian (Indian) pedigrees, is unique among the SCAs from clinical, pathological, and molecular perspectives. Clinically, the distinguishing feature is early and prominent action tremor with variability in other signs. Pathologically, brain MRIs also suggest variability, with promi- nent cortical as well as cerebellar atrophy. Genetically, SCA12 is caused by a CAG repeat expansion that does not encode polyglutamine; we speculate that the mutation may affect expression of the gene PPP2R2B, which encodes a brain-specific regulatory subunit of the protein phosphatase PP2A. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|