Hereditary spastic paraplegia caused by the novel mutation 1047insC in the SPG7 gene.
Spastic paraplegia type 7 (SPG7) is an autosomal recessive form of hereditary spastic paraparesis (ARHSP) caused by mutations in paraplegin, a subunit of an ATP-dependent AAA-protease located within the inner mitochondrial membrane. We have identified a novel paraplegin mutation, c.1047insC, in a non-consanguineous Norwegian family with ARHSP. This is the first description of this disorder in the Norwegian population and, apart from mild ptosis in two siblings, the phenotype was essentially pure and late in onset.
Dept. of Neurology, Haukeland University Hospital, 5021, Bergen, Norway.
Charalampos
C
Tzoulis
Paola S
PS
Denora
Filippo M
FM
Santorelli
Laurence A
LA
Bindoff
D000074183:ATPases Associated with Diverse Cellular Activities; D000328:Adult; D004252:DNA Mutational Analysis / Q000379:methods; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D008666:Metalloendopeptidases / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics* / Q000503:physiopathology
D008666:Metalloendopeptidases; C112889:SPG7 protein, human; D000074183:ATPases Associated with Diverse Cellular Activities