title: SPG11: a consistent clinical phenotype in a family with homozygous spatacsin truncating mutation.
abstract: Hereditary spastic paraplegias (HSP) are a heterogeneous group of neurodegenerative disorders leading to progressive spasticity of the lower limbs. Here, we describe clinical and genetic features in an Italian family affected by autosomal recessive HSP (ARHSP) with mental impairment and thin corpus callosum (TCC). In both affected subjects, genetic analysis revealed the presence of a homozygous small deletion (733_734delAT) leading to a frameshift (M245VfsX) within the coding region of SPG11 gene, encoding spatacsin. This finding is the first independent confirmation that spatacsin loss of function mutations cause ARHPS-TCC.
authors: Dino Ferrari Centre, Department of Neurological Sciences, IRCCS Foundation, Ospedale Maggiore, Policlinico Mangiagalli and Regina Elena, University of Milan, Via Francesco Sforza 35, Milan 20122, Italy.
authors: Roberto
authors: R
authors: Del Bo
authors: Alessio
authors: A
authors: Di Fonzo
authors: Serena
authors: S
authors: Ghezzi
authors: Federica
authors: F
authors: Locatelli
authors: Giovanni
authors: G
authors: Stevanin
authors: Antonella
authors: A
authors: Costa
authors: Stefania
authors: S
authors: Corti
authors: Nereo
authors: N
authors: Bresolin
authors: Giacomo Pietro
authors: GP
authors: Comi
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution; D001483:Base Sequence; D003337:Corpus Callosum / Q000473:pathology; D004247:DNA / Q000235:genetics; D005260:Female; D016368:Frameshift Mutation; D006720:Homozygote; D006801:Humans; D015810:Linkage Disequilibrium; D008279:Magnetic Resonance Imaging; D008297:Male; D010375:Pedigree; D010641:Phenotype; D011506:Proteins / Q000235:genetics*; D017384:Sequence Deletion; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics* / Q000473:pathology* / Q000503:physiopathology; D014429:Twins, Dizygotic
chemical_list: D011506:Proteins; C520412:SPG11 protein, human; D004247:DNA
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