A novel missense mutation in valosin-containing protein gene identified in a Japanese family with a pure form of hereditary spastic paraplegia

2017 ◽  
Vol 381 ◽  
pp. 212-213
Author(s):  
T. Kakumoto ◽  
S. Kodama ◽  
H. Ishiura ◽  
J. Mitsui ◽  
T. Hayashi ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Hereditary Spastic Paraplegia ◽  
Protein Gene ◽  
Pure Form ◽  
Spastic Paraplegia ◽  
Japanese Family

scholarly journals A Japanese hereditary spastic paraplegia family with a rare nonsynonymous variant in the SPAST gene

2021 ◽  
Vol 8 (1) ◽  
Author(s):  
Takuya Morikawa ◽  
Shiroh Miura ◽  
Takahisa Tateishi ◽  
Kazuhito Noda ◽  
Hiroki Shibata
Keyword(s):  
Molecular Diagnosis ◽  
Hereditary Spastic Paraplegia ◽  
Autosomal Dominant ◽  
Family Members ◽  
Pathogenic Variant ◽  
Lower Limbs ◽  
Spastic Paraplegia ◽  
Nonsynonymous Variant ◽  
Japanese Family ◽  
Functional Variants

AbstractSpastic paraplegia (SPG) type 4 is an autosomal dominant SPG caused by functional variants in the SPAST gene. We examined a Japanese family with three autosomal dominant SPG patients. These patients presented with typical symptoms of SPG, such as spasticity of the lower limbs. We identified a rare nonsynonymous variant, NM_014946.4:c.1252G>A [p.Glu418Lys], in all three family members. This variant has previously been reported in a Russian SPG family as a “likely pathogenic” variant.5 Ascertainment of additional patients carrying this variant in an unrelated Japanese SPG family further supports its pathogenicity. Molecular diagnosis of SPG4 in this family with hereditary spastic paraplegia is confirmed.

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 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

A missense mutation in the proteolipid protein gene responsible for Pelizaeus—Merzbacher disease in a Japanese family

1993 ◽  
Vol 2 (1) ◽  
pp. 19-22 ◽  
Author(s):  
Akiko Iwaki ◽  
Tamaki Muramoto ◽  
Toru Iwaki ◽  
Hiroyasu Furumi ◽  
Maria L. Dario-deLeon ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Protein Gene ◽  
Proteolipid Protein ◽  
Japanese Family ◽  
Pelizaeus Merzbacher Disease

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

A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia

Neurogenetics ◽  
2005 ◽  
Vol 6 (2) ◽  
pp. 79-84 ◽  
Author(s):  
Johanna A. Reed ◽  
Phillip A. Wilkinson ◽  
Heema Patel ◽  
Michael A. Simpson ◽  
Arnaud Chatonnet ◽  
...  
Keyword(s):  
Hereditary Spastic Paraplegia ◽  
Autosomal Dominant ◽  
Pure Form ◽  
Spastic Paraplegia

scholarly journals A Missense Mutation in the Coiled-Coil Domain of the KIF5A Gene and Late-Onset Hereditary Spastic Paraplegia

2006 ◽  
Vol 63 (2) ◽  
pp. 284 ◽  
Author(s):  
Mariangela Lo Giudice ◽  
Marcella Neri ◽  
Michele Falco ◽  
Maurizio Sturnio ◽  
Elisa Calzolari ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Hereditary Spastic Paraplegia ◽  
Late Onset ◽  
Coiled Coil ◽  
Spastic Paraplegia ◽  
Coiled Coil Domain
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