title: Clinical and genetic study of a large SPG4 Italian family.
abstract: A novel SPG4 906delT frame-shift mutation in exon 6 was identified in a large Italian family with an autosomal dominant form of hereditary spastic paraplegia (ADHSP). Intrafamilial phenotypic variations observed in the pedigree included spasticity and additional clinical features, such as peripheral sensory-motor neuropathy, cognitive impairment, and urological dysfunction. Severe clinical features were found predominantly in the men who were affected, and there was no statistically significant correlation of disability and time since onset of symptoms, suggesting the existence of other genetic/nongenetic modifier(s), including gender.
authors.affiliation: Laboratorio di Neurogenetica, IRCCS Santa Lucia, Rome, Italy. a.orlacchio@hsantalucia.it
authors.forename: Antonio
authors.initials: A
authors.lastname: Orlacchio
authors.forename: Toshitaka
authors.initials: T
authors.lastname: Kawarai
authors.forename: Fabrizio
authors.initials: F
authors.lastname: Gaudiello
authors.forename: Antonio
authors.initials: A
authors.lastname: Totaro
authors.forename: Orazio
authors.initials: O
authors.lastname: Schillaci
authors.forename: Alessandro
authors.initials: A
authors.lastname: Stefani
authors.forename: Roberto
authors.initials: R
authors.lastname: Floris
authors.forename: Peter H
authors.initials: PH
authors.lastname: St George-Hyslop
authors.forename: Sandro
authors.initials: S
authors.lastname: Sorbi
authors.forename: Giorgio
authors.initials: G
authors.lastname: Bernardi
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D000328:Adult; D000368:Aged; D001931:Brain Mapping; D002540:Cerebral Cortex / Q000473:pathology; D004252:DNA Mutational Analysis / Q000379:methods; D005192:Family Health; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics* / Q000503:physiopathology; D000074181:Spastin; D015899:Tomography, Emission-Computed, Single-Photon / Q000379:methods
chemical_list: D000251:Adenosine Triphosphatases; D000074181:Spastin; C400283:SPAST protein, human