Spastic paraplegia
A spastic paraplegia mouse model reveals REEP1 dependent ER shaping
... Lack of REEP1 exon 2 is associated with spastic paraplegia in humans and causes a severe motor phenotype in mice. (A) MLPA-based screening of genomic DNA from an HSP index patient for copy number ...
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Case report on novel mutation in SPAST gene in Polish family with spastic paraplegia
... Conclusion: This study presents a family with spastic paraplegia due to a novel mutation c.1390G › T(p.Glu464Term) in SPAST gene. Affected individuals showed a range of phenotypes that varied in their ...
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A hereditary spastic paraplegia mutation in kinesin-1A/KIF5A disrupts neurofilament transport
... 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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MR Imaging Findings in Autosomal Recessive Hereditary Spastic Paraplegia
... ereditary spastic paraplegia (HSP) is a heterogeneous group of hereditary disorders first described by Strumpell in 1880, characterized by degeneration of the corticospinal tracts and posterior column of ...
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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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Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia
... 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 reference ...
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ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia
... microcephaly. This led to the identification of 2 candidate homozygous missense variants. On the basis of the variant frequency in public databases, prior association with neurodegenerative disease, in silico ...
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Original Article SPG3A gene polymorphisms in hereditary spastic paraplegia
... Hereditary spastic paraplegia (HSP) is a group of inherited neurological disorders caused by axonal degeneration [1, 2]. This disease usually affects the motor ability and the patients may need the ...
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ACO2 mutations: A novel phenotype associating severe optic atrophy and spastic paraplegia
... A now 56-year-old white lady issued from a nonconsanguineous union presented because of severe optic atrophy and spastic paraplegia. Her symptoms had been slowly progressive since infancy and associated ...
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Spastic paraplegia proteins spastizin and spatacsin mediate autophagic lysosome reformation
... hereditary spastic paraplegia gene products, the SPG15 protein spastizin and the SPG11 protein spatacsin, are pivotal for autophagic lysosome reformation (ALR), a pathway that generates new ...
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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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“Ears of the Lynx” MRI Sign Is Associated with SPG11 and SPG15 Hereditary Spastic Paraplegia
... 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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Febrile ataxia and myokymia broaden the SPG26 hereditary spastic paraplegia phenotype
... Our proband presented at age 5 years with severe fever-induced ataxia and myokymia, the latter in the flexor muscles of the hands and feet, which addition- ally exhibited carpopedal spasm. Presumed postviral ...
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Child Neurology: Hereditary spastic paraplegia in children
... In a pure, autosomal dominant HSP, ATL1 (SPG3A) and SPAST (SPG4) mutation analysis would be the first tests of choice. If negative, REEP1 (SPG31) could be tested subsequently. In case of a negative family history or ...
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Clinical features and genetic spectrum in Chinese patients with recessive hereditary spastic paraplegia
... notion that SPG11 is the most frequent genetic determinant in AR-HSP patients. In agreement with literature data that nonsense and frameshift mutations accounted for the ma- jority of known SPG11 mutations [20], two ...
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Spastic paraplegia due to recessive or dominant mutations in ERLIN2 can convert to ALS
... Amyotrophic lateral sclerosis (ALS) and hereditary spastic paraplegia (HSP) are 2 distinctive degenerative motor neuron diseases (MNDs). HSP is a slow progressing disease usually starting in childhood or ...
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Clinical and genetic study of hereditary spastic paraplegia in Canada
... data were collected after written consent was obtained from all study participants. Standardized clinical assessments were performed and included demographic information, family history, developmental history, and HSP ...
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Electrophysiological characterisation of motor and sensory tracts in patients with hereditary spastic paraplegia (HSP)
... by Spastic Paraplegia Rating Scale (SPRS) ...if spastic paresis was accompanied by impaired vibration sense and/or urinary urgency only (56% of patients in our ...
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Chinese families with autosomal recessive hereditary spastic paraplegia caused by mutations in SPG11
... Family 9: c.1561_1562delAA/p.(Asn521Trpfs). In the index case, the variant was filtered for being homozy- gous, while his parents carried this variant in the hetero- zygous state. The parents had normal clinical ...
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The prevalence of cognitive dysfunction in the estonian population of the hereditary spastic paraplegia
... onset spastic para- paresis and dementia, without other pathological findings, in two families has not been reported elsewhere and probably represents a distinct entity ...
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