Exon 8–17 deletions of SPAST in a Chinese family with hereditary spastic paraplegia: A case report and literature review

2015 ◽  
Vol 357 (1-2) ◽  
pp. 282-284 ◽  
Author(s):  
Kang Wang ◽  
Guohua Zhao
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Hereditary Spastic Paraplegia ◽  
Chinese Family ◽  
Spastic Paraplegia

scholarly journals Novel ATL1 mutation in a Chinese family with hereditary spastic paraplegia: A case report and review of literature

2019 ◽  
Vol 7 (11) ◽  
pp. 1358-1366
Author(s):  
Xue-Wen Xiao ◽  
Juan Du ◽  
Bin Jiao ◽  
Xin-Xin Liao ◽  
Lu Zhou ◽  
...  
Keyword(s):  
Case Report ◽  
Hereditary Spastic Paraplegia ◽  
Chinese Family ◽  
Review Of Literature ◽  
Spastic Paraplegia

scholarly journals Novel SPG 11 Mutations in Hereditary Spastic Paraplegia With Thin Corpus Callosum in a Chinese Family

2016 ◽  
Vol 43 (6) ◽  
pp. 833-840
Author(s):  
Xiaojie Tian ◽  
Min Wang ◽  
Kaiyuan Zhang ◽  
Xinqing Zhang
Keyword(s):  
Hereditary Spastic Paraplegia ◽  
Gene Mutations ◽  
Protein Product ◽  
Exome Capture ◽  
Chinese Family ◽  
Compound Heterozygous ◽  
Spastic Paraplegia ◽  
Reading Frame ◽  
Physical Examinations ◽  
Compound Heterozygous Mutations

AbstractBackground: Hereditary spastic paraplegia (HSP) is a neurodegenerative disease that is characterized by progressive weakness and spasticity of the lower extremities; HSP can present as complicated forms with additional neurological signs. More than 70 disease loci have been described with different modes of inheritance. Methods: In this study, nine subjects from a Chinese family that included two individuals affected by HSP were examined through detailed clinical evaluations, physical examinations, and genetic tests. Targeted exome capture technology was used to identify gene mutations. Results: Two novel compound heterozygous mutations in the SPG 11 gene were identified, c.4001_4002insATAAC and c.4057C>G. The c.4001_4002insATAAC mutation leads to a reading frame shift during transcription, resulting in premature termination of the protein product. The missense mutation c.4057C>G (p.H1353D) is located in a highly conserved domain and is predicted to be a damaging substitution. Conclusions: Based on the results described here, we propose that these novel compound heterozygous mutations in SPG 11 are the genetic cause of autosomal recessive HSP in this Chinese family.

scholarly journals Desflurane for management of decompressive laminectomy in a patient with hereditary spastic paraplegia: a case report

2019 ◽  
Vol 5 (1) ◽  
Author(s):  
Masahiro Tada ◽  
Kazuyoshi Tateoka ◽  
Kenji Yamamoto ◽  
Yasuyoshi Inagaki ◽  
Takayuki Kunisawa
Keyword(s):  
Case Report ◽  
Hereditary Spastic Paraplegia ◽  
Spastic Paraplegia ◽  
Decompressive Laminectomy

scholarly journals Novel deletion of SPAST in a Chinese family with hereditary spastic paraplegia

2013 ◽  
Vol 54 (5) ◽  
pp. 251-254 ◽  
Author(s):  
YP Feng ◽  
X Ke ◽  
M Zhai ◽  
Q Xin ◽  
YQ Gong ◽  
...  
Keyword(s):  
Hereditary Spastic Paraplegia ◽  
Chinese Family ◽  
Spastic Paraplegia
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