Hereditary spastic paraplegia: identification of an SPG3A gene mutation in a Chinese family.

Title Hereditary spastic paraplegia: Identification of an SPG3A gene mutation in a Chinese family

De novo occurrence of novel SPG3A/atlastin mutation presenting as cerebral palsy.

BACKGROUND Mutations in the SPG3A gene (atlastin protein) cause approximately 10% of autosomal-dominant hereditary spastic paraplegia. For many subjects with an SPG3A mutation, spastic gait begins in early childhood and does not significantly worsen even over many years. Such subjects resemble those with spastic diplegic cerebral palsy. To date, only 9 SPG3A mutations have been reported. OBJE...

Novel mutation in the SPG3A gene in an African American family with an early onset of hereditary spastic paraplegia.

BACKGROUND Mutations in a novel GTPase gene SPG3A cause an autosomal dominant hereditary spastic paraplegia linked to chromosome 14q (SPG3), which accounts for approximately 10% to 15% of all autosomal dominant hereditary spastic paraplegia cases. The mutational spectrum of the SPG3A gene and the phenotype/genotype correlations have not yet been established. OBJECTIVE To describe a kindred wi...

Hereditary spastic paraplegia 3A associated with axonal neuropathy.

OBJECTIVE To study the frequency and distribution of mutations in SPG3A in a large cohort of patients with hereditary spastic paraplegia. DESIGN We screened a large cohort of 182 families and isolated cases with pure or complex hereditary spastic paraplegia phenotypes, which were negative for mutations in SPG4. RESULTS In 12 probands (6.6%), we identified 12 different SPG3A mutations (11 mi...

Hereditary spastic paraplegia and axonal motor neuropathy caused by a novel SPG3A de novo mutation.

Mutations in the SPG3A gene (atlastin protein) cause approximately 10% of autosomal-dominant hereditary spastic paraplegia. Most patients with an SPG3A mutation present with a pure phenotype and early-onset disease, although complicated forms with peripheral neuropathy are also reported. We report a new heterozygous S398F mutation in exon 12 of the SPG3A gene causing a very early-onset spastic ...