Early-onset Dementia

Gene: SPG21

Green List (high evidence)

Mast syndrome is an autosomal recessive complicated form of hereditary spastic paraplegia in which progressive spastic paraparesis is associated in more advanced cases with cognitive decline, dementia, and other neurologic abnormalities. Symptom onset usually occurs in adulthood, and the disorder is progressive with variable severity. Brain imaging shows thinning of the corpus callosum. The disorder occurs with high frequency in the Old Order Amish. Founder variant in Amish, two additional families and a mouse model.

New HGNC approved gene name is ACP33

Created: 25 Sep 2020, 2:48 a.m. | Last Modified: 25 Sep 2020, 2:51 a.m.

Panel Version: 0.110

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mast syndrome, MIM# 248900

Publications

• 14564668
• 24451228
• 28752238
• 26978163