A SPG4 GENE MUTATION CAUSES AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA IN AN ITALIAN FAMILY

2006

UN'ESTESA FAMIGLIA CON PARAPARESI SPASTICA FAMILIARE E MUTAZIONE DEL GENE ATLASTINA1

2006

Clinical and genetic study of a new familial epilepsy with nocturnal wandering and ictal fear. report of the first evidence for chrna2 mutation in hu…

2006

Autosomal dominant hereditary spastic paraplegia: report of a large italian family with R581X spastin mutation

2007

We describe a large kindred with a typical pure form of autosomal dominant hereditary spastic paraplegia (ADHSP). On the basis of maximum LOD score of 1.94 at theta (max)=0 with marker D2S367, we obtained suggestive evidence for linkage of ADHSP to SPG4 locus. Denaturing high-performance liquid chromatography (DHPLC) and direct sequence analysis allowed us to identify a nonsense mutation (1741* C > T) in exon 17 of the Spastin gene. This transition, carried by all the affected family members and two apparently healthy individuals, lead to truncation of the last 36 amino acids in the C-terminus of the protein. These results confirm the existence of mutation in the SPG4 gene with a reduced pe…