Heterozygous de novo KPNA3 Mutations Cause Complex Hereditary Spastic Paraplegia

2021 ◽  
Author(s):  
Mehrdad A Estiar ◽  
Noor Lail ◽  
David A. Dyment ◽  
Parizad Varghaei ◽  
Taila Hartley ◽  
...  
Keyword(s):  
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 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 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

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

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

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
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