SPG11: a consistent clinical phenotype in a family with homozygous spatacsin truncating mutation.
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.
Del Bo
Roberto
R
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.
Di Fonzo
Alessio
A
Ghezzi
Serena
S
Locatelli
Federica
F
Stevanin
Giovanni
G
Costa
Antonella
A
Corti
Stefania
S
Bresolin
Nereo
N
Comi
Giacomo Pietro
GP
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
D011506:Proteins; C520412:SPG11 protein, human; D004247:DNA
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