title: Intrafamilial variability in hereditary spastic paraplegia associated with an SPG4 gene mutation.
abstract: The authors studied a family with pure autosomal dominant spastic paraplegia (ADHSP) that showed a marked intrafamilial variability in both age at onset and clinical severity, ranging from severe congenital presentation to mild involvement after age 55. They found a novel mutation in the SPG4 gene, which segregates with the disease in six patients. The mutation affects the consensus donor splice site of SPG4 intron 16, resulting in a premature termination codon at amino acid 578. The data confirm the pathologic significance of SPG4 mutations in pure ADHSP and add to the list of known SPG4 allelic variants.
authors.affiliation: Molecular Medicine, IRCCS-Bambino Gesù, Rome, Italy. fms3@na.flashnet.it
authors.forename: F M
authors.initials: FM
authors.lastname: Santorelli
authors.forename: C
authors.initials: C
authors.lastname: Patrono
authors.forename: D
authors.initials: D
authors.lastname: Fortini
authors.forename: A
authors.initials: A
authors.lastname: Tessa
authors.forename: G
authors.initials: G
authors.lastname: Comanducci
authors.forename: E
authors.initials: E
authors.lastname: Bertini
authors.forename: A
authors.initials: A
authors.lastname: Pierallini
authors.forename: G A
authors.initials: GA
authors.lastname: Amabile
authors.forename: C
authors.initials: C
authors.lastname: Casali
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D000328:Adult; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics*; D000074181:Spastin
chemical_list: D000251:Adenosine Triphosphatases; D000074181:Spastin; C400283:SPAST protein, human