Novel Compound Heterozygous Spatacsin Mutations in a Greek Kindred with Hereditary Spastic Paraplegia SPG11 and Dementia

2016 ◽  
Vol 16 (5-6) ◽  
pp. 373-381 ◽  
Author(s):  
Matthew J. Fraidakis ◽  
Maura Brunetti ◽  
Craig Blackstone ◽  
Massimo Filippi ◽  
Adriano Chiò
Keyword(s):  
Hereditary Spastic Paraplegia ◽  
Compound Heterozygous ◽  
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.

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

A novel phenotype of hereditary spastic paraplegia type 7 associated with a compound heterozygous mutation in paraplegin

2020 ◽  
Vol 62 (1) ◽  
Author(s):  
Colin J. Mahoney ◽  
Thanuja Dharmadasa ◽  
William Huynh ◽  
Jean‐Pierre Halpern ◽  
Steve Vucic ◽  
...  
Keyword(s):  
Hereditary Spastic Paraplegia ◽  
Compound Heterozygous Mutation ◽  
Heterozygous Mutation ◽  
Compound Heterozygous ◽  
Spastic Paraplegia

Compound heterozygous DARS2 mutations as a mimic of hereditary spastic paraplegia

2021 ◽  
Author(s):  
Martje G. Pauly ◽  
Yorck Hellenbroich ◽  
Kathrin Grundmann‐Hauser ◽  
Frauke Hinrichs ◽  
Katja Lohmann ◽  
...  
Keyword(s):  
Hereditary Spastic Paraplegia ◽  
Compound Heterozygous ◽  
Spastic Paraplegia

Two types of recessive hereditary spastic paraplegia in Roma patients in compound heterozygous state; no ethnically prevalent variant found

2020 ◽  
Vol 721 ◽  
pp. 134800
Author(s):  
Anna Uhrova Meszarosova ◽  
Pavel Seeman ◽  
Jan Jencik ◽  
Jana Drabova ◽  
Renata Cibochova ◽  
...  
Keyword(s):  
Hereditary Spastic Paraplegia ◽  
Compound Heterozygous ◽  
Heterozygous State ◽  
Spastic Paraplegia ◽  
Compound Heterozygous State

scholarly journals Chinese families with autosomal recessive hereditary spastic paraplegia caused by mutations in SPG11

BMC Neurology ◽  
2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Xueping Chen ◽  
Jiao Liu ◽  
Qian-Qian Wei ◽  
Ru Wei Ou ◽  
Bei Cao ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Hereditary Spastic Paraplegia ◽  
Autosomal Recessive ◽  
The Other ◽  
Compound Heterozygous ◽  
Missense Mutations ◽  
Spastic Paraplegia ◽  
Targeted Next Generation Sequencing ◽  
Variants Of Unknown Significance ◽  
Lateral Sclerosis

Abstract Background Spastic paraplegia type 11 (SPG11) mutations are the most frequent cause of autosomal recessive hereditary spastic paraplegia (ARHSP). We are aiming to identify the causative mutations in SPG11 among families referred to our center with ARHSP in a Chinese population. Methods Targeted next-generation sequencing was performed on the patients to identify disease-causing mutations. Variants were analyzed according to their predicted pathogenicity and their relevance to the clinical phenotypes. The segregation in the family members was validated by Sanger sequencing. Results A total of 12 mutations in SPG11 gene from 9 index cases were identified, including 6 frameshift mutations, 3 missense mutations, 1 nonsense mutation, 1 splicing mutation, and 1 intron deletion mutation. In 6 of these patients, the mutations were homozygous, and the other 3 patients carried two compound heterozygous mutations. Six mutations were novel; 2 were classified as pathogenic, 1 were considered as likely pathogenic, and the other 3 were variants of unknown significance. Additionally, 1 missense heterozygous variant we found was also carried by amyotrophic lateral sclerosis (ALS) patient. Clinically and electrophysiologically, some of our ARHSP patients partially shared various features of autosomal-recessive juvenile amyotrophic lateral sclerosis (ARJALS), including combination of both UMN and LMN degeneration. Conclusions The results contribute to extending of the SPG11 gene mutation spectrum and emphasizing a putative link between ARHSP and ARJALS.

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