hereditary spastic paraplegia
“Ears of the Lynx” MRI Sign Is Associated with SPG11 and SPG15 Hereditary Spastic Paraplegia
... of hereditary spastic paraplegia with a thin corpus callosum, mostly associated with mutations in the spatacsin vesicle trafficking associated gene, causing Spastic Paraplegia type 11 ...
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Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia
... HSP: Hereditary spastic paraplegia; HTLV-1: Human T-cell lymphotropic virus type 1; Indels: Small insertions and deletions; MHD: Mu homology domain; MIM: Online Mendelian Inheritance in Man database ...
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Original Article SPG3A gene polymorphisms in hereditary spastic paraplegia
... [16] Orlacchio A, Patrono C, Gaudiello F, Rocchi C, Moschella V, Floris R, Bernardi G, Kawarai T. Silver syndrome variant of hereditary spastic paraplegia: a locus to 4p and allelism with SPG4. ...
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Intramuscular viral delivery of paraplegin rescues peripheral axonopathy in a model of hereditary spastic paraplegia
... Degeneration of peripheral motor axons is a common feature of several debilitating diseases including compli- cated forms of hereditary spastic paraplegia. One such form is caused by loss of the ...
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High frequency of SPG4 in Taiwanese families with autosomal dominant hereditary spastic paraplegia
... Additional file 1: Figure S1. Pedigrees of the 20 HSP families in the study. The pedigrees of the 20 hereditary spastic paraplegia families included in the study. The circles represent female ...
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Tau missorting and spastin-induced microtubule disruption in neurodegeneration: Alzheimer Disease and Hereditary Spastic Paraplegia
... In contrast, in hereditary spastic paraplegia (HSP) caused by mutations of the gene encoding spastin (spg4 alias SPAST), spastin function in terms of microtubule severing is decreased at[r] ...
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Electrophysiological characterisation of motor and sensory tracts in patients with hereditary spastic paraplegia (HSP)
... HSP: Hereditary spastic paraplegia; MEP: Motor evoked potential; ms: Millisecond; NCS: Nerve conduction study; NCV: Nerve conduction velocity; PMCT: Peripheral motor conduction time; SNAP: Sensory ...
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Bone mineral density in patients with multiple sclerosis, hereditary ataxia or hereditary spastic paraplegia after at least 10 years of disease - a case control study
... HA: Hereditary ataxi; HSP: Hereditary spastic paraplegia; iCa: Ionized calcium; MS: Multiple sclerosis; NTX: Cross linked N-terminal telopeptide of type 1 collagen; PTH: Parathyroid hormone; ...
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A hereditary spastic paraplegia mutation in kinesin-1A/KIF5A disrupts neurofilament transport
... of hereditary spastic paraplegia may well have neurofila- ment transport abnormalities which may contribute to the disease progression, and this warrants further ...
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Child Neurology: Hereditary spastic paraplegia in children
... on hereditary spastic paraplegia (HSP) is dominated by descriptions of adult case series, there is less emphasis on the genetic evaluation in suspected pediatric cases of ...progressive ...
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Disease related phenotypes in a Drosophila model of hereditary spastic paraplegia are ameliorated by treatment with vinblastine
... Hereditary spastic paraplegias (HSPs) are a group of neurodegen- erative diseases characterized by progressive weakness and spastic- ity of the lower limbs ...
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Febrile ataxia and myokymia broaden the SPG26 hereditary spastic paraplegia phenotype
... A summary of all SPG26 published cases (table 1) reveals spastic paraparesis as a commonly shared core symptom. The disease extends to other systems and includes dysarthria, ataxia, intellectual disability, and ...
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Two novel homozygous mutations of CAPN1 in Chinese patients with hereditary spastic paraplegia and literatures review
... The proband from family B referred to our clinic for progressive walking difficulties at age 41. Five years ago, she reported weakness in the lower limbs and there was a slight tiptoe when she was walking. She felt ...
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Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report
... Spastic paraplegia 7 (SPG7, OMIM#602783), as one of the most common form of autosomal recessive heredi- tary spastic paraplegia (ARHSP) caused by mutations in the SPG7 gene, was firstly ...
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Mutations in the ER shaping protein reticulon 2 cause the axon degenerative disorder hereditary spastic paraplegia type 12
... ern Europe and North America is autosomal dominant, uncom- plicated HSP. Strikingly, mutations in 3 genes encoding proteins involved in ER morphogenesis, receptor accessory protein 1 (REEP1), atlastin-1 (ATL1), and ...
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Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin 1 coordinate microtubule interactions with the tubular ER network
... Hereditary spastic paraplegias (HSPs; SPG1–45) are inherited neurological disorders characterized by lower extremity spastic weakness. More than half of HSP cases result from autosomal dominant ...
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The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8
... Heterozygous presence of an E430025E21Rik knockout allele thus results in less strumpellin protein and a cor- respondingly reduced abundance of the multi-protein SHRC complex.. A reducti[r] ...
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Verification of the Validity of the NPT Treatment in Hereditary Spastic Paraplegia: An Investigation Performed by Application of Random Matrix Theory
... HSP’s hereditary nature versus the explicitly non-hereditary nature of spastic diplegia (however, unlike spastic diplegia and other forms of spastic cerebral palsy, HSP cannot be ...
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Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia
... We also found a new SPAST missense variant (p. Ile328Leu) in a 15 years old male with complicated spastic paraplegia starting at the age of 18 months. This putative mutation was also found in his father’s ...
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Corticospinal tract damage in HHH syndrome: a metabolic cause of hereditary spastic paraplegia
... with spastic paraplegia, variable cognitive impairment and possible cerebellar signs, then suggesting possible common mechanisms connecting urea cycle-related pathways with the maintenance of the ...
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