Hereditary Spastic Paraplegia: Clinical and Genetic Hallmarks

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 represen...

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Bibliographic Details
Published in:Cerebellum (London, England) England), 2017-04, Vol.16 (2), p.525-551
Main Authors: de Souza, Paulo Victor Sgobbi, de Rezende Pinto, Wladimir Bocca Vieira, de Rezende Batistella, Gabriel Novaes, Bortholin, Thiago, Oliveira, Acary Souza Bulle
Format: Article
Language:English
Subjects:
Biomedical and Life Sciences
Biomedicine
Brain - diagnostic imaging
Humans
Neurobiology
Neurology
Neurosciences
Review
Spastic Paraplegia, Hereditary - classification
Spastic Paraplegia, Hereditary - diagnosis
Spastic Paraplegia, Hereditary - genetics
Spastic Paraplegia, Hereditary - physiopathology
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Summary: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).
ISSN:1473-4222
1473-4230
DOI:10.1007/s12311-016-0803-z