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Erschienen in: The Cerebellum 2/2017

01.04.2017 | Review

Hereditary Spastic Paraplegia: Clinical and Genetic Hallmarks

verfasst von: Paulo Victor Sgobbi de Souza, Wladimir Bocca Vieira de Rezende Pinto, Gabriel Novaes de Rezende Batistella, Thiago Bortholin, Acary Souza Bulle Oliveira

Erschienen in: The Cerebellum | Ausgabe 2/2017

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Abstract

Hereditary spastic paraplegia comprises a wide and heterogeneous group of inherited neurodegenerative and neurodevelopmental disorders resulting from primary retrograde dysfunction of the long descending fibers of the corticospinal tract. Although spastic paraparesis and urinary dysfunction represent the most common clinical presentation, a complex group of different neurological and systemic compromise has been recognized recently and a growing number of new genetic subtypes were described in the last decade. Clinical characterization of individual and familial history represents the main step during diagnostic workup; however, frequently, few and unspecific data allows a low rate of definite diagnosis based solely in clinical and neuroimaging basis. Likewise, a wide group of neurological acquired and inherited disorders should be included in the differential diagnosis and properly excluded after a complete laboratorial, neuroimaging, and genetic evaluation. The aim of this review article is to provide an extensive overview regarding the main clinical and genetic features of the classical and recently described subtypes of hereditary spastic paraplegia (HSP).
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Metadaten
Titel
Hereditary Spastic Paraplegia: Clinical and Genetic Hallmarks
verfasst von
Paulo Victor Sgobbi de Souza
Wladimir Bocca Vieira de Rezende Pinto
Gabriel Novaes de Rezende Batistella
Thiago Bortholin
Acary Souza Bulle Oliveira
Publikationsdatum
01.04.2017
Verlag
Springer US
Erschienen in
The Cerebellum / Ausgabe 2/2017
Print ISSN: 1473-4222
Elektronische ISSN: 1473-4230
DOI
https://doi.org/10.1007/s12311-016-0803-z

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