Further supporting evidence for REEP1 phenotypic and allelic heterogeneity. [PDF]
, 2019 Heterozygous mutations in REEP1 (MIM #609139) encoding the receptor expression-enhancing protein 1 (REEP1) are a well-recognized and relatively frequent cause of autosomal dominant hereditary spastic paraplegia (HSP), SPG31.1 REEP1 localizes in the ...
Behnam, M +5 more
core +3 more sources
Diagnosis, investigation and management of hereditary spastic paraplegias in the era of next-generation sequencing. [PDF]
, 2014 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 ...
Hensiek, Anke +2 more
core +108 more sources
Myelin pathology: Involvement of molecular chaperones and the promise of chaperonotherapy [PDF]
, 2019 The process of axon myelination involves various proteins including molecular chaperones. Myelin alteration is a common feature in neurological diseases due to structural and functional abnormalities of one or more myelin proteins.
Cappello F. +4 more
core +1 more source
Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78) [PDF]
, 2017 Hereditary spastic paraplegias are heterogeneous neurodegenerative disorders characterized by progressive spasticity of the lower limbs due to degeneration of the corticospinal motor neurons.
Andreeva, Albena +21 more
core +2 more sources
Genetic origin of patients having spastic paraplegia with or without other neurologic manifestations
BMC Neurology, 2022 Background Hereditary spastic paraplegia (HSP) is a group of neurodegenerative diseases characterized by lower-limb spastic paraplegia with highly genetic and clinical heterogeneity.
Jiannan Chen +6 more
doaj +1 more source
Mapa epidemiológico transversal de las ataxias y paraparesias espásticas hereditarias en España
Neurología, 2023 Resume: Introducción: Las ataxias (AT) y paraparesias espásticas hereditarias (PEH) son síndromes neurodegenerativos raros. Nos proponemos conocer la prevalencia de las AT y PEH en España en 2019. Pacientes y métodos: Estudio transversal, multicéntrico,
G. Ortega Suero +48 more
doaj +1 more source
Novel homozygous GBA2 mutation in a patient with complicated spastic paraplegia [PDF]
, 2018 Hereditary spastic paraplegias (HSPs) are a heterogeneous group of neurological disorders characterized primarily by a pyramidal syndrome with lower limb spasticity, which can manifest as pure HSP or associated with a number of neurological or non ...
Bertini, Enrico +10 more
core +1 more source
Epidemiology of ataxia and hereditary spastic paraplegia in Spain: A cross-sectional study
Neurología (English Edition), 2023 Introduction: Ataxia and hereditary spastic paraplegia are rare neurodegenerative syndromes. We aimed to determine the prevalence of these disorders in Spain in 2019.
G. Ortega Suero +48 more
doaj +1 more source
陆军军医大学学报, 2023 Objective To genetically analyze a family with hereditary spastic paraplegia in order to provide theoretical basis for the pathogenesis and treatment of the disease.
ZHU Xintong, GUO Hong, GUO Hong
doaj +1 more source
Gait Patterns in Patients with Hereditary Spastic Paraparesis [PDF]
, 2016 Spastic gait is a key feature in patients with hereditary spastic paraparesis, but the gait characterization and the relationship between the gait impairment and clinical characteristics have not been ...
Casali, C +11 more
core +4 more sources