Three novel spastin (SPG4) mutations in families with autosomal dominant hereditary spastic paraplegia
C Proukakis, PE Hart, A Cornish, TT Warner… - Journal of the …, 2002 - Elsevier
Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous condition,
characterised principally by progressive spasticity of the lower limbs. Forty percent of
autosomal dominant (AD) pedigrees show linkage to the SPG4 locus on chromosome 2,
which encodes spastin, an A TPase a ssociated with diverse cellular a ctivities (AAA)
protein. We have performed a clinical and genetic study of three AD-HSP families linked to
SPG4. Sequencing revealed three novel causative mutations. Two of the mutations were …
characterised principally by progressive spasticity of the lower limbs. Forty percent of
autosomal dominant (AD) pedigrees show linkage to the SPG4 locus on chromosome 2,
which encodes spastin, an A TPase a ssociated with diverse cellular a ctivities (AAA)
protein. We have performed a clinical and genetic study of three AD-HSP families linked to
SPG4. Sequencing revealed three novel causative mutations. Two of the mutations were …
