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01-11-2007 | Original Article

SPG11: a consistent clinical phenotype in a family with homozygous Spatacsin truncating mutation

Authors: Roberto Del Bo, Alessio Di Fonzo, Serena Ghezzi, Federica Locatelli, Giovanni Stevanin, Antonella Costa, Stefania Corti, Nereo Bresolin, Giacomo Pietro Comi

Published in: Neurogenetics | Issue 4/2007

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.

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Title: SPG11: a consistent clinical phenotype in a family with homozygous Spatacsin truncating mutation
Authors: Roberto Del Bo
Alessio Di Fonzo
Serena Ghezzi
Federica Locatelli
Giovanni Stevanin
Antonella Costa
Stefania Corti
Nereo Bresolin
Giacomo Pietro Comi
Publication date: 01-11-2007
Publisher: Springer-Verlag
Published in: Neurogenetics / Issue 4/2007
Print ISSN: 1364-6745
Electronic ISSN: 1364-6753
DOI: https://doi.org/10.1007/s10048-007-0095-z

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SPG11: a consistent clinical phenotype in a family with homozygous Spatacsin truncating mutation

Abstract

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Abstract

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