title: A new SPG4 mutation in a variant form of spastic paraplegia with congenital arachnoid cysts.
abstract: The clinical and genetic findings are described for 16 patients from a large Italian family with a variant form of hereditary spastic paraplegia and congenital arachnoid cysts inherited as an autosomal dominant trait. A molecular study has revealed a novel missense mutation, T614I, in exon 17 of SPG4, which may play a role in both focal cortical dysgenesis and neurodegeneration of the motor neurons in the corticospinal tract.
authors.affiliation: Laboratory of Neurogenetics, University of Rome Tor Vergata, Rome, Italy. a.orlacchio@hsantalucia.it
authors.forename: A
authors.initials: A
authors.lastname: Orlacchio
authors.forename: F
authors.initials: F
authors.lastname: Gaudiello
authors.forename: A
authors.initials: A
authors.lastname: Totaro
authors.forename: R
authors.initials: R
authors.lastname: Floris
authors.forename: P H
authors.initials: PH
authors.lastname: St George-Hyslop
authors.forename: G
authors.initials: G
authors.lastname: Bernardi
authors.forename: T
authors.initials: T
authors.lastname: Kawarai
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics* / Q000502:physiology; D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D019943:Amino Acid Substitution; D020132:Anticipation, Genetic; D016080:Arachnoid Cysts / Q000151:congenital / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D002540:Cerebral Cortex / Q000473:pathology; D003062:Codon / Q000235:genetics; D003704:Dementia / Q000235:genetics; D005091:Exons / Q000235:genetics; D005260:Female; D005530:Foot Deformities / Q000235:genetics; D005799:Genes, Dominant; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007558:Italy / Q000453:epidemiology; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D011712:Pyramidal Tracts / Q000473:pathology; D015419:Spastic Paraplegia, Hereditary / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D000074181:Spastin
chemical_list: D003062:Codon; D000251:Adenosine Triphosphatases; D000074181:Spastin; C400283:SPAST protein, human