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
Defective axonal transport in motor neuron disease [PDF]
, 2007 Several recent studies have highlighted the role of axonal transport in the pathogenesis of motor neuron diseases. Mutations in genes that control microtubule regulation and dynamics have been shown to cause motor neuron degeneration in mice and in a ...
Baas +77 more
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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
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
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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
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Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism. [PDF]
, 2020 Recent studies have identified both recessive and dominant forms of mitochondrial disease that result from ATAD3A variants. The recessive form includes subjects with biallelic deletions mediated by non-allelic homologous recombination.
Armstrong, C +28 more
core +3 more sources
Annals of Clinical and Translational Neurology, 2022 While the anticipated rise of disease‐modifying therapies calls for reliable trial outcome parameters, fluid biomarkers are lacking in spastic paraplegia type 4 (SPG4), the most prevalent form of hereditary spastic paraplegia.
C. Kessler +12 more
semanticscholar +1 more source
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
Arginase 1 deficiency presenting as complicated hereditary spastic paraplegia
Cold Spring Harbor molecular case studies, 2022 Argininemia or arginase deficiency is a metabolic disorder caused by pathogenic variants in ARG1 and consists of a variable association of progressive spastic paraplegia, intellectual disability, and seizures.
F. Freua +11 more
semanticscholar +1 more source