Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations

Background In the clinically and genetically heterogeneous group of the hereditary spastic paraplegias (HSPs), mutations in the SPAST gene are most frequently found and cause a pure autosomal dominant form. Objective To provide the clinical and genetic characteristics of Dutch patients with HSP due to a SPAST mutation (SPG4). Methods SPAST mutation carriers were identified through a comprehensive national database search. Available medical records were reviewed. Results 151 mutation carriers carried 60 different changes in the SPAST gene, of which one was a known polymorphism, and 27 were nove... Mehr ...