SPG11: a consistent clinical phenotype in a family with homozygous spatacsin truncating mutation.
Neurogenetics. 2007-08-24; 8(4): 301-305
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1. Neurogenetics. 2007 Nov;8(4):301-5. Epub 2007 Aug 24.
SPG11: a consistent clinical phenotype in a family with homozygous spatacsin
Del Bo R(1), Di Fonzo A, Ghezzi S, Locatelli F, Stevanin G, Costa A, Corti S,
Bresolin N, Comi GP.
(1)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.
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
PMID: 17717710 [Indexed for MEDLINE]