Diagnosis, investigation and management of hereditary spastic paraplegias in the era of next-generation sequencingReportar como inadecuado




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Journal of Neurology

, Volume 262, Issue 7, pp 1601–1612

First Online: 06 December 2014Received: 05 November 2014Accepted: 25 November 2014

Abstract

The hereditary spastic paraplegias HSPs are a group of genetic conditions in which spastic paralysis of the legs is the principal clinical feature. This is caused by a relatively selective distal axonal degeneration involving the longest axons of the corticospinal tracts. Consequently, these conditions provide an opportunity to identify genes, proteins and cellular pathways that are critical for axonal health. In this review, we will provide a brief overview of the classification, clinical features and genetics of HSP, highlighting selected HSP subtypes i.e. those associated with thin corpus callosum or cerebellar ataxia that are of particular clinical interest. We will then discuss appropriate investigation strategies for HSPs, suggesting how these might evolve with the introduction of next-generation sequencing technology. Finally, we will discuss the management of HSP, an area somewhat neglected by HSP research.

KeywordsHereditary spastic paraplegia Axonal degeneration Pure HSP Complex HSP with cerebellar ataxia Thin corpus callosum  Download fulltext PDF



Autor: Anke Hensiek - Stephen Kirker - Evan Reid

Fuente: https://link.springer.com/







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