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This study was conducted to elucidate the genetic etiology of patients with the pure type autosomal dominant-hereditary spastic paraparesis diagnosis. The patient group consisted of 23 individuals from 6 families in Turkey. In SPAST, 3 patients have novel c.1072G > C mutation and 2 patients have novel c.1099-1G > C mutation.
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results demonstrate that, in addition to the AAA domain, the MTBD region of spastin is also involved in regulating ATPase activity, making interactions between spastin protomers more complicated than expected
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The findings suggest a mechanism for neurodegeneration in hereditary spastic paraplegia whereby SPAST mutations indirectly lead to impaired peroxisome transport and oxidative stress.
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study to explore the novel SPAST splice site donor variant, c.1004+3A>C in spastic paraplegia type 4; Exon 6 is skipped out by the variant, leading to premature termination of translation, p.Gly290Trpfs*5; measurement of SPAST transcripts in lymphocytes demonstrated reduction through nonsense-mediated mRNA decay
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Two novel mutations in gene SPG4 in patients with autosomal dominant spastic paraplegia
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The N184X mutation triggers the reinitiation of translation at a third start codon in SPAST, resulting in synthesis of a novel M187 spastin isoform that is able to sever microtubules.
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Our data reveal a high rate of complex cases (25%), with psychiatric disorders among the most common comorbidity (10% of all SPASTpatients). Further, we identify a genotype-phenotype correlation between patients carrying loss-of-function mutations in SPAST and the presence of psychiatric disorders.
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Variants in SPAST and KIF5A were the most common causes of autosomal dominant hereditary spastic paraplegia in Greece.
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Two distinct Alu insertion-associated deletions in the SPAST gene cause hereditary spastic paraplegia type SPG4.
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The data of this study confirmed the genetic heterogeneity of childhood-onset pure HSP, with SPG4/SPAST and SPG3A/ATL1 being the most frequent forms.
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We report the first genetic study of uncomplicated HSP patients from the Czech Republic. We found broad mutation spectrum in 13 from the 17 coding exons and adjacent regions of the SPAST gene. We detected 21 novel presumably pathogenic mutations. The high frequency of SPAST mutations was found only in familial patients.
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This study demonstrted that the most frequently affected gene was SPAST with pathogenic or likely pathogenic mutations in hereditary spastic paraplegia.
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This study demonstrated that SPAST gene mutation associated with hereditary spastic paraplegias in group of Polish patients
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We identified two novel mutations and two previously reported mutations in SPAST and ATL1, respectively. The family with the ATL1 c.1204T>G mutation exhibited male-lethality, female infancy-onset, and pseudo- X-linked dominant transmission
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Using human-engineered and differentially modified microtubules study finds that glutamylation is the main regulator of the hereditary spastic paraplegia microtubule severing enzyme spastin.
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Patients with deletions of exons in the SPAST gene showed pure hereditary spastic paraplegia.
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Novel SPAST pathogenic variants were identified in Korean patients with hereditary spastic paraplegia.
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The coexistence of mutations in SPAST and FSHD was confirmed in our proband and in two siblings
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The spastin as a microtubule-severing protein was an important mechanistic breakthrough, it seems certain that insufficient microtubule severing alone is not an adequate explanation for HSP-SPG4.
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SPAST mutations are common in Chinese patients with pure hereditary spastic paraplegia
