Results 21 to 30 of about 132,494 (221)
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
doaj +1 more source
Mechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegia [PDF]
, 2018 International audienceMany genetic neurological disorders exhibit variable expression within affected families, often exemplified by variations in disease age at onset. Epistatic effects (i.e.
Jennifer H Lumb +39 more
core +4 more sources
In Silico Analysis of Variants of Uncertain Significance in AP4S1 Gene
Bioscientific Review, 2020 Hereditary spastic paraplegia is a group of heterogeneous neurological disorders with genetic etiologies. It is characterized by spasticity in lower limbs along with neurological complications.
Sobia Nazir Chaudry +3 more
doaj +1 more source
Hereditary Spastic Paraplegia: From Genes, Cells and Networks to Novel Pathways for Drug Discovery
, 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.
Alan Mackay-Sim, Mackay-Sim, Alan
core +1 more source
Hereditary spastic paraplegias
Ceylon Medical Journal, 2009 Molecular genetics may hold the key to precise diagnosis, including prenatal diagnosis and management doi: 10.4038/cmj.v51i1.1366 Ceylon Medical Journal Vol.51(1) 2006 1 ...
K K, Lau +3 more
openaire +5 more sources
The novel de novo mutation of KIF1A gene as the cause for Spastic paraplegia 30 in a Japanese case
eNeurologicalSci, 2019 Spastic paraplegia 30 is a recently established autosomal recessive disease characterized by a complex form of spastic paraplegia associated with neuropathy.
Keisuke Yoshikawa +11 more
doaj +1 more source
Hereditary spastic paraplegia [PDF]
Journal of Neurology, Neurosurgery & Psychiatry, 1963 Hereditary spastic paraplegia isa raredisease, the first mention ofitintheliterature probably being by Strumpell (1880), after whom thedisease is sometimes named.Rhein(1916), gave a summary ofallreports up tothatdate, 90inallcovering 111 families, andPaskind andStone(1933) also summarized theliterature withaccounts ofanother 36reports from40families ...
openaire +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
Subtle Imaging Findings Aid the Diagnosis of Adolescent Hereditary Spastic Paraplegia and Ataxia. [PDF]
, 2018 PURPOSE Hereditary spastic paraplegia (HSP) and hereditary spastic ataxia (HSA) are a heterogeneous group of genetic disorders characterized by progressive lower limb spasticity resulting from pyramidal tract dysfunction.
Coskun, Emily K +9 more
core +2 more sources