Amish, Mennonite, and Hutterite
Genetic Disorder Database

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/mental retardation, hypertonicity, hyperreflexia, spastic paralysis, thin corpus callosum, white matter abnormalities, dementia, cerebellar dysfunction, extensor plantars 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Amish  
Gene: SPG21
Base Change: ins.A, at nucleotide 601
Amino Acid Change: Frame shift
Last updated: 2019-07-03 

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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