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

• autosomal recessive
• 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

More general terms

• hereditary spastic paraplegia (familial spastic paralysis)

Database

• OMIM: https://mirror.omim.org/entry/248900