objective hereditary spastic paraplegia (hsp) is a degenerative disease of genetic origin affecting the corticospinal tracts in the spinal cord. there are three forms of inheritance: autosomal dominant hsp, autosomal rececive hsp and x-linked hsp. this disease is characterized by progressive spasticity of leg muscles with varying degrees of stiffness and weakness of other muscle groups. in this...

INTRODUCTION Balance impairments are common in patients with hereditary spastic paraplegia and are among the most debilitating symptoms, as they frequently result in falls and fall-related injuries. Several features of hereditary spastic paraplegia contribute to balance impairments and multiple treatment options exist. However, an overview of these underlying mechanisms and their treatment is c...

OBJECTIVE Although calf muscle spasticity is often treated with botulinum toxin type-A, the effects on balance and gait are ambiguous. Hereditary spastic paraplegia is characterized by progressive spasticity and relatively mild muscle weakness of the lower limbs. It is therefore a good model to evaluate the functional effects of botulinum toxin type-A. DESIGN Explorative pre-post intervention...

Hereditary ataxia and spastic paraplegia are heterogeneous monogenic neurodegenerative disorders. To date, a large number of individuals with such disorders remain undiagnosed. Here, we have assessed molecular diagnosis by gene panel sequencing in 105 early and late-onset hereditary ataxia and spastic paraplegia probands, in whom extensive previous investigations had failed to identify the gene...

Hereditary spastic paraplegia (HSP) is a group of genetically heterogeneous neurodegenerative disorders characterized by slowly progressive spasticity and weakness of the lower limbs. HSP is caused by failure of development or selective degeneration of the corticospinal tracts, which contain the longest axons in humans. The most common form of HSP is caused by mutations of the spastin gene (SPA...

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...

BACKGROUND AND PURPOSE The hereditary spastic paraplegias are a group of genetically heterogeneous neurodegenerative disorders, characterized by progressive spasticity and weakness of the lower limbs. Although conventional brain MR imaging findings are normal in patients with pure hereditary spastic paraplegia, microstructural alteration in the cerebral WM can be revealed with DTI. Concomitant ...

BACKGROUND Autosomal recessive hereditary spastic paraplegia (ARHSP) with thin corpus callosum (TCC) is a complicated form of hereditary spastic paraplegia, characterized by progressive spastic paraplegia, weakness of the lower extremities and is usually accompanied by mental retardation. Mutations in the Spastic Paraplegia gene 11 (SPG11) account for a large proportion of ARHSP-TCC cases world...

The hereditary spastic paraplegias (HSP) are a large group of inherited neurologic disorders that share the primary symptom difficulty in walking due to weakness and spasticity lower limbs. Spastic paraplegia-48 (SPG48) is an autosomal recessive disorder characterized by limbs resulting gait difficulties. Biallelic mutations AP5Z1 known cause this complex form paraplegia referred as SPG48 (MIM#...