Ontology highlight
ABSTRACT:
SUBMITTER: Shoukier M
PROVIDER: S-EPMC2986068 | biostudies-literature | 2009 Feb
REPOSITORIES: biostudies-literature
Shoukier Moneef M Neesen Juergen J Sauter Simone M SM Argyriou Loukas L Doerwald Nadine N Pantakani D V Krishna DV Mannan Ashraf U AU
European journal of human genetics : EJHG 20080813 2
The SPAST gene encoding for spastin plays a central role in the genetically heterogeneous group of diseases termed hereditary spastic paraplegia (HSP). In this study, we attempted to expand and refine the genetic and phenotypic characteristics of SPAST associated HSP by examining a large cohort of HSP patients/families. Screening of 200 unrelated HSP cases for mutations in the SPAST gene led to detection of 57 mutations (28.5%), of which 47 were distinct and 29 were novel mutations. The distribu ...[more]