Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia.

ABSTRACT: Mast syndrome is an autosomal recessive, complicated form of hereditary spastic paraplegia with dementia that is present at high frequency among the Old Order Amish. 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. Patients have a thin corpus callosum and white-matter abnormalities, as seen on magnetic resonance imaging. Using an extensive Amish pedigree, we have mapped the Mast syndrome locus (SPG21) to a small interval of chromosome 15q22.31 that encompasses just three genes. Sequence analysis of the three transcripts revealed that all 14 affected cases were homozygous for a single base-pair insertion (601insA) in the

SUBMITTER: Simpson MA 

PROVIDER: S-EPMC1180493 | biostudies-literature | 2003 Nov

REPOSITORIES: biostudies-literature