olivopontocerebellar atrophy type 1 (Menzel type); spinocerebellar ataxia type 1 (SCA-1)
Jump to navigation
Jump to search
Pathology
- mutant ataxin-1 aggregates into single nuclear inclusion
- cerebellar Purkinje cells major site of involvement
Genetics
- CAG repeat expansion in SCA1 gene
- tissue-specific & brain region-specific CAG repeat expansion
Clinical manifestations
- generally presents between ages 20-30
- variability in onset & clinical variability
- progressive cerebellar ataxis
- dysarthria
- bulbar signs
- hyperreflexia
- positive Babinski sign
- muscle wasting in extremities may occur
- fasciculations may occur
- sensory & upper motor neuron signs present
Laboratory
More general terms
References
- ↑ Duenas AM et al, Molecular pathogenesis of spinocerebellar ataxias. Brain. 2006, 120:1357 PMID: https://www.ncbi.nlm.nih.gov/pubmed/16613893
- ↑ Koeppen AH et al, The pathogenesis of spinocerebellar ataxia. Cerebellum 2005, 4:62 PMID: https://www.ncbi.nlm.nih.gov/pubmed/15895563
- ↑ OMIM https://mirror.omim.org/entry/164400
- ↑ UpToDate version 14.2
- ↑ PubMed Search PubMed search: spinocerebellar+ataxia+type+1
Patient information
olivopontocerebellar atrophy type-1 (spinocerebellar ataxia type-1) patient information