scholarly journals De novo REEP2 missense mutation in pure hereditary spastic paraplegia

2017 ◽  
Vol 4 (5) ◽  
pp. 347-350 ◽  
Author(s):  
Ricardo H. Roda ◽  
Alice B. Schindler ◽  
Craig Blackstone
Keyword(s):  
Missense Mutation ◽  
Hereditary Spastic Paraplegia ◽  
De Novo ◽  
Spastic Paraplegia

scholarly journals Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project

2020 ◽  
Vol 28 (12) ◽  
pp. 1763-1768
Author(s):  
Thomas Bourinaris ◽  
◽  
Damian Smedley ◽  
Valentina Cipriani ◽  
Isabella Sheikh ◽  
...  
Keyword(s):  
Hereditary Spastic Paraplegia ◽  
De Novo ◽  
Age At Onset ◽  
Genetic Diagnosis ◽  
Spastic Paraplegia ◽  
Sequencing Data ◽  
Juvenile Form ◽  
Pathogenic Variants ◽  
Degenerative Disorders ◽  
Significant Gene

AbstractHereditary spastic paraplegia (HSP) is a group of heterogeneous inherited degenerative disorders characterized by lower limb spasticity. Fifty percent of HSP patients remain yet genetically undiagnosed. The 100,000 Genomes Project (100KGP) is a large UK-wide initiative to provide genetic diagnosis to previously undiagnosed patients and families with rare conditions. Over 400 HSP families were recruited to the 100KGP. In order to obtain genetic diagnoses, gene-based burden testing was carried out for rare, predicted pathogenic variants using candidate variants from the Exomiser analysis of the genome sequencing data. A significant gene-disease association was identified for UBAP1 and HSP. Three protein truncating variants were identified in 13 patients from 7 families. All patients presented with juvenile form of pure HSP, with median age at onset 10 years, showing autosomal dominant inheritance or de novo occurrence. Additional clinical features included parkinsonism and learning difficulties, but their association with UBAP1 needs to be established.

scholarly journals ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia

2018 ◽  
Vol 4 (2) ◽  
pp. e223 ◽  
Author(s):  
Christian G. Bouwkamp ◽  
Zaid Afawi ◽  
Aviva Fattal-Valevski ◽  
Inge E. Krabbendam ◽  
Stefano Rivetti ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Hereditary Spastic Paraplegia ◽  
Krebs Cycle ◽  
Spastic Paraplegia ◽  
Homozygous Carrier ◽  
Clinical Genetic ◽  
Homozygous Missense Mutation ◽  
Recessive Mutations ◽  
Mitochondrial Aconitase ◽  
Essential Enzyme

ObjectiveTo identify the clinical characteristics and genetic etiology of a family affected with hereditary spastic paraplegia (HSP).MethodsClinical, genetic, and functional analyses involving genome-wide linkage coupled to whole-exome sequencing in a consanguineous family with complicated HSP.ResultsA homozygous missense mutation was identified in the ACO2 gene (c.1240T>G p.Phe414Val) that segregated with HSP complicated by intellectual disability and microcephaly. Lymphoblastoid cell lines of homozygous carrier patients revealed significantly decreased activity of the mitochondrial aconitase enzyme and defective mitochondrial respiration. ACO2 encodes mitochondrial aconitase, an essential enzyme in the Krebs cycle. Recessive mutations in this gene have been previously associated with cerebellar ataxia.ConclusionsOur findings nominate ACO2 as a disease-causing gene for autosomal recessive complicated HSP and provide further support for the central role of mitochondrial defects in the pathogenesis of HSP.

scholarly journals De novo KCNA2 mutations cause hereditary spastic paraplegia

2017 ◽  
Vol 81 (2) ◽  
pp. 326-328 ◽  
Author(s):  
Andreea Manole ◽  
Roope Männikkö ◽  
Michael G. Hanna ◽  
Dimitri M. Kullmann ◽  
Henry Houlden ◽  
...  
Keyword(s):  
Hereditary Spastic Paraplegia ◽  
De Novo ◽  
Spastic Paraplegia

Author response for "Hereditary spastic paraplegia is a novel phenotype for germline de novo ATP1A1 mutation"

2019 ◽  
Author(s):  
Fabrizia Stregapede ◽  
Lorena Travaglini ◽  
Adriana P. Rebelo ◽  
Vivian Pedigone Cintra ◽  
Emanuele Bellacchio ◽  
...  
Keyword(s):  
Hereditary Spastic Paraplegia ◽  
De Novo ◽  
Author Response ◽  
Spastic Paraplegia

scholarly journals A novel missense mutation (I344K) in the SPG4 gene in a Korean family with autosomal-dominant hereditary spastic paraplegia

2002 ◽  
Vol 47 (9) ◽  
pp. 473-477 ◽  
Author(s):  
C.-S. Ki ◽  
W. Y. Lee ◽  
D. H. Han ◽  
D. H. Sung ◽  
K.-B. Lee ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Hereditary Spastic Paraplegia ◽  
Autosomal Dominant ◽  
Spastic Paraplegia ◽  
Korean Family

scholarly journals Novel De Novo Mutations in KIF1A as a Cause of Hereditary Spastic Paraplegia With Progressive Central Nervous System Involvement

2016 ◽  
Vol 31 (9) ◽  
pp. 1114-1119 ◽  
Author(s):  
Leslie Hotchkiss ◽  
Sandra Donkervoort ◽  
Meganne E. Leach ◽  
Payam Mohassel ◽  
Diana X. Bharucha-Goebel ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Hereditary Spastic Paraplegia ◽  
De Novo ◽  
Central Nervous System Involvement ◽  
Spastic Paraplegia ◽  
De Novo Mutations ◽  
System Involvement
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