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spastic paraplegia type-21 (Mast syndrome, SPG21)
Epidemiology:
- high frequency among the Old Order Amish
Pathology:
- dementia & other CNS abnormalities
- thin corpus callosum and white-matter abnormalities
Genetics:
1) autosomal recessive
2) associated with defects in SPG21 gene
See hereditary spastic paraplegia
Clinical manifestations:
- subtle childhood abnormalities may be present
- main features develop in early adulthood
- slowly progressive
- cerebellar signs & extrapyramidal signs are found in patients with advanced dementia
Database Correlations
OMIM 248900
References
UniProt :accession Q5T4F4