scholarly journals Autosomal dominant hereditary spastic paraplegia: DHPLC-based mutation analysis ofSPG4 reveals eleven novel mutations

2005 ◽  
Vol 25 (5) ◽  
pp. 506-506 ◽  
Author(s):  
Clarice Patrono ◽  
Valentina Scarano ◽  
Federica Cricchi ◽  
Mariarosa A. B. Melone ◽  
Maria Chiriaco ◽  
...  
Keyword(s):  
Mutation Analysis ◽  
Hereditary Spastic Paraplegia ◽  
Autosomal Dominant ◽  
Spastic Paraplegia ◽  
Novel Mutations

Mutation analysis of thespastingene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia

2002 ◽  
Vol 20 (2) ◽  
pp. 127-132 ◽  
Author(s):  
S. Sauter ◽  
B. Miterski ◽  
S. Klimpe ◽  
D. Bönsch ◽  
L. Schöls ◽  
...  
Keyword(s):  
Mutation Analysis ◽  
Hereditary Spastic Paraplegia ◽  
Autosomal Dominant ◽  
Spastic Paraplegia

scholarly journals Autosomal dominant hereditary spastic paraplegia: Novel mutations in the REEP1 gene (SPG31)

2008 ◽  
Vol 9 (1) ◽  
Author(s):  
Katharina J Schlang ◽  
Larissa Arning ◽  
Joerg T Epplen ◽  
Susanne Stemmler
Keyword(s):  
Hereditary Spastic Paraplegia ◽  
Autosomal Dominant ◽  
Spastic Paraplegia ◽  
Novel Mutations

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.

Novel mutations in SPG11 cause hereditary spastic paraplegia associated with early-onset levodopa-responsive Parkinsonism

2011 ◽  
Vol 26 (3) ◽  
pp. 553-556 ◽  
Author(s):  
Arianna Guidubaldi ◽  
Carla Piano ◽  
Filippo M. Santorelli ◽  
Gabriella Silvestri ◽  
Martina Petracca ◽  
...  
Keyword(s):  
Hereditary Spastic Paraplegia ◽  
Early Onset ◽  
Spastic Paraplegia ◽  
Novel Mutations

Two novel mutations in gene SPG4 in patients with autosomal dominant spastic paraplegia

2016 ◽  
Vol 52 (6) ◽  
pp. 603-607 ◽  
Author(s):  
A. F. Akhmetgaleyeva ◽  
I. M. Khidiyatova ◽  
E. V. Saifullina ◽  
R. F. Idrisova ◽  
R. V. Magzhanov ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Spastic Paraplegia ◽  
Novel Mutations

Autosomal dominant hereditary spastic paraplegia caused by mutation of UBAP1

Neurogenetics ◽  
2020 ◽  
Vol 21 (3) ◽  
pp. 169-177
Author(s):  
Jianda Wang ◽  
Yanqi Hou ◽  
Lina Qi ◽  
Shuang Zhai ◽  
Liangwu Zheng ◽  
...  
Keyword(s):  
Hereditary Spastic Paraplegia ◽  
Autosomal Dominant ◽  
Spastic Paraplegia
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