Four novel SPG3A/atlastin mutations identified in autosomal dominant hereditary spastic paraplegia kindreds with intra-familial variability in age of onset and complex phenotype

Novel mutations in the Atlastin gene (SP

Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus

✍ S.M. Sauter; W. Engel; L.M. Neumann; J. Kunze; J. Neesen 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 102 KB 👁 1 views

Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterised by progressive spasticity and hyperreflexia of the lower limbs. Autosomal dominant hereditary spastic paraplegia linked to the SPG3A locus on chromosome 14q11-2