Journal of Pediatric Surgery Case Reports, 2021 Spastic paraplegia 61 is a rare, complicated form of hereditary spastic paraplegia characterized by diffuse sensory and motor polyneuropathy. Knowledge about the clinical manifestations of disease in patients with this genetic condition is limited.
E.K. Ninmer +3 more
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Early‐Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST
Movement Disorders, 2022 Familial hereditary spastic paraplegia (HSP)‐SPAST (SPG4) typically presents with a pure HSP phenotype.
Alisa Mo +17 more
semanticscholar +1 more source
The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15.
Brain : a journal of neurology, 2022 In the field of hereditary spastic paraplegia (HSP), progress in molecular diagnostics needs to be translated into robust phenotyping studies to understand genetic and phenotypic heterogeneity and to support interventional trials.
Afshin Saffari +33 more
semanticscholar +1 more source
Inertial Gait Sensors to Measure Mobility and Functioning in Hereditary Spastic Paraplegia
Neurology, 2022 Background and Objectives Hereditary spastic paraplegia (HSP) causes progressive spasticity and weakness of the lower limbs. As neurologic examination and the clinical Spastic Paraplegia Rating Scale (SPRS) are subject to potential patient-dependent and ...
Martin Regensburger +11 more
semanticscholar +1 more source
A novel SPAST gene mutation identified in a Chinese family with hereditary spastic paraplegia
BMC Medical Genetics, 2020 Background Hereditary spastic paraplegia is a heterogeneous group of clinically and genetically neurodegenerative diseases characterized by progressive gait disorder.
Weiwei Yu +4 more
doaj +1 more source
Rescue of lysosomal function as therapeutic strategy for SPG15 hereditary spastic paraplegia
Brain : a journal of neurology, 2022 SPG15 is a hereditary spastic paraplegia subtype caused by mutations in Spastizin, a protein encoded by the ZFYVE26 gene. Spastizin is involved in autophagosome maturation and autophagic lysosome reformation and SPG15-related mutations lead to autophagic
C. Vantaggiato +11 more
semanticscholar +1 more source
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Brain : a journal of neurology, 2021 Human 4-hydroxyphenylpyruvate dioxygenase-like (HPDL) is a putative iron-containing non-heme oxygenase of unknown specificity and biological significance. We report 25 families containing 34 individuals with neurological disease associated with biallelic
M. Wiessner +105 more
semanticscholar +1 more source
Rescue axonal defects by targeting mitochondrial dynamics in hereditary spastic paraplegias
Neural Regeneration Research, 2019 Impaired axonal development and degeneration underlie debilitating neurodegenerative diseases including hereditary spastic paraplegia, a large group of inherited diseases.
Yongchao Mou, Xue-Jun Li
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Specific Gait Changes in Prodromal Hereditary Spastic Paraplegia Type 4: preSPG4 Study
Movement Disorders, 2022 In hereditary spastic paraplegia type 4 (SPG4), subclinical gait changes might occur years before patients realize gait disturbances. The prodromal phase of neurodegenerative disease is of particular interest to halt disease progression by future ...
C. Laßmann +9 more
semanticscholar +1 more source
Hereditary Spastic Paraplegia: From Genes, Cells and Networks to Novel Pathways for Drug Discovery
Brain Science, 2021 Hereditary spastic paraplegia (HSP) is a diverse group of Mendelian genetic disorders affecting the upper motor neurons, specifically degeneration of their distal axons in the corticospinal tract.
A. Mackay-Sim
semanticscholar +1 more source