Hereditary Spastic Paraplegia

Antonio Orlacchio, Toshitaka Kawarai, Antonio Totaro, Alessia Errico, Peter H. St George-Hyslop, Elena I. Rugarli, Giorgio Bernardi
2004 Archives of Neurology  
Autosomal dominant hereditary spastic paraplegia (ADHSP) is mainly caused by mutations in the SPG4 gene, which encodes a new member of the AAA (adenosine triphosphatases associated with diverse cellular activities) protein family (spastin). Accumulation of genotype-phenotype correlation is important for better understanding of SPG4-linked hereditary spastic paraplegia. Objectives: To perform a clinical and genetic study of families with ADHSP and to perform the functional analysis of the
more » ... lysis of the founder mutation discovered in the SPG4 gene. Design: Genetic and clinical study. Patients: Fifteen unrelated families with ADHSP originating from southern Scotland. Main Outcome Measures: Clinical assessment, linkage analysis, haplotype study, expression of mutant spastin protein in cultured cells. Results: Nine families with ADHSP were linked to the SPG4 locus at 2p21-p24. Sequence analysis of SPG4 (REPRINTED) ARCH NEUROL / VOL 61, JUNE 2004 WWW.ARCHNEUROL.COM 849
doi:10.1001/archneur.61.6.849 pmid:15210521 fatcat:6wf2tnjaibbwrdszhymgdp37oa