Mast Syndrome
| Disorder | |
|---|---|
| OMIM #: | #248900 (Click to access OMIM database) |
| Disorder: | Mast Syndrome |
| Also known as: | SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE, 21 SPG21 |
| Clinical | |
| Phenotype: | Onset in the late teens or twenties; akinetic mutism, developmental delay, hypertonia, hyperreflexia, spastic paralysis, thin corpus callosum, white matter abnormalities, dementia, cerebellar dysfunction, extensor plantars, lower limb muscle weakness |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Amish | |
| Gene: | SPG21 |
| Base Change: | ins.A, at nucleotide 601 |
| Amino Acid Change: | Frame shift |
| Last updated: | 2022-11-05 |
| References |
|---|
| Cross HE and McKusick VA. (1967) The mast syndrome. A recessively inherited form of presenile dementia with motor disturbances. Arch Neurol 16(1): 1-13. PubMed ID: 6024251 |
| Simpson MA, Cross H, Proukakis C, Pryde A, Hershberger R, Chatonnet A, Patton MA, and Crosby AH. (2003) Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia. Am J Hum Genet 73(5): 1147-1156. PubMed ID: 14564668 |
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