Mast Syndrome

Alternative name(s) : Spastic paraplegia 21,autosomal recessive\; SPG21

Gene_locus : human-SPG21

Mutation : 7 mutations A108P_human-SPG21 T201NfsX11_human-SPG21 F40EfsX27_human-SPG21 DelEx3Ex7_human-SPG21 I163X_human-SPG21 V52fs_human-SPG21 R40X_human-SPG21

OMIM : 248900 , 608181

Comment

Mast Syndrome is an autosomal recessive, complicated form of hereditary spastic paraplegia with dementia. Subtle childhood abnormalities may be present, but the main features develop in early adulthood. The disease is slowly progressive, and cerebellar and extrapyramidal signs are also found in patients with advanced disease. Maspardin-ACP33-SPG21 is mutated in Mast syndrome (Cross and McKusick 1967, Simpson et al 2003)\; In an Ohio Amish isolate, Cross and McKusick (1967) found 20 cases of a recessively inherited form of presenile dementia, which they termed Mast syndrome. A 1-bp insertion (601insA) in the ACP33 gene, causing a frameshift and premature termination of the protein.. Ishiura et al. (2014) reported 2 Japanese brothers with autosomal recessive SPG21. The patients had onset of gait disturbances in their fifties and sixties, much later than that reported by Cross and McKusick (1967) The mutation was A108P substitution