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Hereditary Spastic Paraplegia: Clinical and Genetic Hallmarks

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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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Authors and Affiliations

  1. Division of Neuromuscular Diseases, Department of Neurology and Neurosurgery, Universidade Federal de São Paulo (UNIFESP), Estado de Israel Street, 899. Vila Clementino, São Paulo, São Paulo, 04022-002, Brazil

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

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  1. Paulo Victor Sgobbi de Souza
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  2. Wladimir Bocca Vieira de Rezende Pinto
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  3. Gabriel Novaes de Rezende Batistella
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Correspondence to Wladimir Bocca Vieira de Rezende Pinto.

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de Souza, P.V.S., de Rezende Pinto, W.B.V., de Rezende Batistella, G.N. et al. Hereditary Spastic Paraplegia: Clinical and Genetic Hallmarks. Cerebellum 16, 525–551 (2017). https://doi.org/10.1007/s12311-016-0803-z

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