Amish, Mennonite, and Hutterite
Genetic Disorder Database

Spastic paraplegia 20, autosomal recessive

Disorder
OMIM #: #275900  (Click to access OMIM database)
Disorder: Spastic paraplegia 20, autosomal recessive 
Also known as: Troyer syndrome
SPG20
Spastic paraparesis, childhood-onset, with distal muscle wasting 
Clinical
Phenotype: spastic paralysis, progressive spastic paraparesis, dysarthria, distal weakness, developmental delay/mental retardation, short stature 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Amish  
Gene: SPART
Base Change: c.1110delA
Amino Acid Change: p.Lys370Asnfs*30
Last updated: 2018-12-14 

References
Bakowska JC, Wang H, Xin B, Sumner CJ, Blackstone C. (2008) Lack of spartin protein in Troyer syndrome: a loss-of-function disease mechanism. Arch Neurol Apr;65(4):520-4.
PubMed ID: 18413476 
Cross HE, McKusick VA. (1967) The Troyer Syndrome: a recessive form of spastic paraplegia with distal muscle wasting. Arch Neurol 16:473-485.
PubMed ID: 6022528 
Patel H, Cross H, Proukakis C, Hershberger R, Bork P, Ciccarelli FD, Patton MA, McKusick VA, Crosby AH. (2002) SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia. Nat Genet Aug;31(4):347-8.
PubMed ID: 12134148 

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