Home > A. Molecular pathology > KIAA0196
KIAA0196
MIM.610657 8q24.13
Tuesday 18 December 2007
Pathology
germline mutations of KIAA0196 gene in hereditary spastic paraplegia locus 8 (SPG8) (MIM.603563).
- Hereditary spastic paraplegia (HSP) is a progressive upper-motor neurodegenerative disease.
References
Valdmanis PN, Meijer IA, Reynolds A, Lei A, MacLeod P, Schlesinger D, Zatz M, Reid E, Dion PA, Drapeau P, Rouleau GA. Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia. Am J Hum Genet. 2007 Jan;80(1):152-61. PMID: 17160902
