Articles Tagged With: hereditary
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Genetic Evaluation of Hereditary Spastic Paraplegia
Hereditary spastic paraplegia (HSP) refers to a group of rare, clinically heterogenous degenerative neurogenetic disorders resulting in spasticity, gait impairment, and falls as the result of a length-dependent upper motor neuron degeneration. Next-generation sequencing with multigene panels or exome analysis can confirm molecular diagnosis of approximately 30% of HSP patients. Multigene panels can identify the common causative variants, variants on rarely involved genes, and structural rearrangements.
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Genetic Evaluation of Hereditary Spastic Paraplegia
Hereditary spastic paraplegia (HSP) refers to a group of rare, clinically heterogenous degenerative neurogenetic disorders resulting in spasticity, gait impairment, and falls as the result of a length-dependent upper motor neuron degeneration. Next-generation sequencing with multigene panels or exome analysis can confirm molecular diagnosis of approximately 30% of HSP patients. Multigene panels can identify the common causative variants, variants on rarely involved genes, and structural rearrangements.
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Long-Term Treatment of Hereditary Amyloid Neuropathy with Patisiran
Hereditary transthyretin-mediated amyloidosis with polyneuropathy is effectively treated by patisiran, a lipid nanoparticle ribonucleic acid interference that binds to transthyretin (TTR) messenger RNA and inhibits TTR production in the liver, resulting in reduction of the serum TTR concentration. Treatment effect has been sustained during a five-year open-label extension study.