Novel compound heterozygous mutations of the SPG11 gene in Korean families with hereditary spastic paraplegia with thin corpus callosum

2009 ◽  
Vol 256 (10) ◽  
pp. 1714-1718 ◽  
Author(s):  
Sung-Min Kim ◽  
Jeong-Seon Lee ◽  
Suhyun Kim ◽  
Hyun-Jung Kim ◽  
Man-Ho Kim ◽  
...  
Keyword(s):  
Corpus Callosum ◽  
Hereditary Spastic Paraplegia ◽  
Compound Heterozygous ◽  
Spastic Paraplegia ◽  
Thin Corpus Callosum ◽  
Korean Families ◽  
Compound Heterozygous Mutations

Atypical late-onset hereditary spastic paraplegia with thin corpus callosum due to novel compound heterozygous mutations in the SPG11 gene

2014 ◽  
Vol 261 (9) ◽  
pp. 1825-1827 ◽  
Author(s):  
Maria Pia Giannoccaro ◽  
Rocco Liguori ◽  
Alessia Arnoldi ◽  
Vincenzo Donadio ◽  
Patrizia Avoni ◽  
...  
Keyword(s):  
Corpus Callosum ◽  
Hereditary Spastic Paraplegia ◽  
Late Onset ◽  
Compound Heterozygous ◽  
Spastic Paraplegia ◽  
Thin Corpus Callosum ◽  
Compound Heterozygous Mutations

Neurological and neuroradiological progression in hereditary spastic paraplegia with a thin corpus callosum

2000 ◽  
Vol 102 (3) ◽  
pp. 196-199 ◽  
Author(s):  
S. Okubo ◽  
M. Ueda ◽  
T. Kamiya ◽  
S. Mizumura ◽  
A. Terashi ◽  
...  
Keyword(s):  
Corpus Callosum ◽  
Hereditary Spastic Paraplegia ◽  
Spastic Paraplegia ◽  
Thin Corpus Callosum

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.

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