Abstract
Publisher Summary This chapter provides an overview on hereditary spastic paraplegias (HSPs). HSPs are a group of diseases with great clinical and genetic heterogeneity. Progressive spasticity and weakness of the lower limbs with mild vibratory sense impairment and bladder dysfunction are, historically and by definition, their clinical core, corresponding pathologically to the degeneration of the longest spinal axonal pathways, corticospinal tracts, and medial posterior columns. Clinical heterogeneity is expressed in variable presentations, in variable age at onset and severity, and in pure and complex forms. In complex forms, diverse neurologic and extraneurologic features are added to the corticospinal syndrome. Genetic heterogeneity is well expressed by the 25 loci known: 10 for autosomal dominant (AD)-HSP, 12 for autosomal recessive (AR)-HSP, and 3 for X-linked HSP. Eleven genes are known: 6 for AD-HSP, 3 for AR-HSP, and 2 for X-linked HSP, corresponding to 11 encoded products (L1CAM, PLP, atlastin, spastin, NIPA1, paraplegin, KIF5A, Hsp60, seipin, spartin, and maspardin). Many types of different mutations in each locus also contribute to this extreme heterogeneity.
Published Version
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