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 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).
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
PVS
de Souza
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. wladimirbvrpinto@gmail.com.
Wladimir Bocca Vieira
WBV
de Rezende Pinto
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.
Gabriel Novaes
GN
de Rezende Batistella
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.
Thiago
T
Bortholin
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.
Acary Souza Bulle
ASB
Oliveira
D001921:Brain / Q000000981:diagnostic imaging; D006801:Humans; D015419:Spastic Paraplegia, Hereditary / Q000145:classification / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology*
Hereditary spastic paraparesis; Motor neuron disease; Neurogenetics; SPG; Spastic ataxias; Spastic paraplegia