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GENATLAS PHENOTYPE

last update : 08-10-2013

Symbol	SPG21
Location	15q22.31
Name	spastic paraplegia 21
Other name(s)	Mast syndrome
Corresponding gene	SPG21
Main clinical features	Amish people, form of presenile dementia, progressive in all cases, leading to akinetic mutism in the most severe cases, with decline in walking and mental function evident by the early twenties, thin corpus callosum and with matter abnormalities on MRI dementia, thin corpus callosum, white matter abnormalities, and cerebellar and extrapyramidal signs in addition to spastic paraparesis (Hanna 2008)
Genetic determination	autosomal recessive
Function/system disorder	neurology
Type	disease

Gene product

Name	33-kD acidic cluster protein

Remark(s)