Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions.

ABSTRACT: The most common form of autosomal recessive hereditary spastic paraplegia is caused by mutations in the SPG11/KIAA1840 gene on chromosome 15q. The nature of the vast majority of SPG11 mutations found to date suggests a loss-of-function mechanism of the encoded protein, spatacsin. The SPG11 phenotype is, in most cases, characterized by a progressive spasticity with neuropathy, cognitive impairment and a thin corpus callosum on brain MRI. Full neuropathological characterization has not been reported to date despite the description of >100 SPG11 mutations. We describe here the clinical and pathological features observed in two unrelated females, members of genetically ascertained SPG11 families originating from Belgium and Italy, respectively. We confirm the presence of lesions of motor tract

SUBMITTER: Denora PS 

PROVIDER: S-EPMC5839621 | biostudies-literature | 2016 Jun

REPOSITORIES: biostudies-literature