Clinical phenotype of hereditary spastic paraplegia due to KIF1C gene mutations across life span

2018 ◽  
Vol 40 (6) ◽  
pp. 458-464 ◽  
Author(s):  
Didem Yücel-Yılmaz ◽  
Emrah Yücesan ◽  
Dilek Yalnızoğlu ◽  
Kader Karlı Oğuz ◽  
Mahmut Şamil Sağıroğlu ◽  
...  
Keyword(s):  
Life Span ◽  
Hereditary Spastic Paraplegia ◽  
Clinical Phenotype ◽  
Gene Mutations ◽  
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 Identification and Expression Analysis of Spastin Gene Mutations in Hereditary Spastic Paraplegia

2001 ◽  
Vol 68 (5) ◽  
pp. 1077-1085 ◽  
Author(s):  
Ingrid K. Svenson ◽  
Allison E. Ashley-Koch ◽  
P. Craig Gaskell ◽  
Travis J. Riney ◽  
W. J. Ken Cumming ◽  
...  
Keyword(s):  
Expression Analysis ◽  
Hereditary Spastic Paraplegia ◽  
Gene Mutations ◽  
Spastic Paraplegia

scholarly journals NIPA1 Gene Mutations Cause Autosomal Dominant Hereditary Spastic Paraplegia (SPG6)

2003 ◽  
Vol 73 (4) ◽  
pp. 967-971 ◽  
Author(s):  
Shirley Rainier ◽  
Jing-Hua Chai ◽  
Debra Tokarz ◽  
Robert D. Nicholls ◽  
John K. Fink
Keyword(s):  
Hereditary Spastic Paraplegia ◽  
Autosomal Dominant ◽  
Gene Mutations ◽  
Spastic Paraplegia

Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations

2011 ◽  
Vol 81 (2) ◽  
pp. 150-157 ◽  
Author(s):  
A Arnoldi ◽  
C Crimella ◽  
E Tenderini ◽  
A Martinuzzi ◽  
MG D'Angelo ◽  
...  
Keyword(s):  
Hereditary Spastic Paraplegia ◽  
Clinical Phenotype ◽  
Spastic Paraplegia ◽  
Phenotype Variability

scholarly journals Expanding the clinical spectrum of SPG11 gene mutations in recessive hereditary spastic paraplegia with thin corpus callosum

2011 ◽  
Vol 54 (1) ◽  
pp. 82-85 ◽  
Author(s):  
Alice Abdel Aleem ◽  
Nourhan Abu-Shahba ◽  
Dominika Swistun ◽  
Jennifer Silhavy ◽  
Stephanie L. Bielas ◽  
...  
Keyword(s):  
Corpus Callosum ◽  
Hereditary Spastic Paraplegia ◽  
Gene Mutations ◽  
Clinical Spectrum ◽  
Spastic Paraplegia ◽  
Thin Corpus Callosum

scholarly journals Alsin Related Disorders: Literature Review and Case Study with Novel Mutations

2014 ◽  
Vol 2014 ◽  
pp. 1-5 ◽  
Author(s):  
Filipa Flor-de-Lima ◽  
Mafalda Sampaio ◽  
Nahid Nahavandi ◽  
Susana Fernandes ◽  
Miguel Leão
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Hereditary Spastic Paraplegia ◽  
Gene Mutations ◽  
Heterozygous Mutation ◽  
Sequencing Analysis ◽  
Primary Lateral Sclerosis ◽  
Spastic Paraplegia ◽  
Juvenile Amyotrophic Lateral Sclerosis ◽  
Primary Lateral ◽  
Lateral Sclerosis

Mutations in theALS2gene cause three distinct disorders: infantile ascending hereditary spastic paraplegia, juvenile primary lateral sclerosis, and autosomal recessive juvenile amyotrophic lateral sclerosis. We present a review of the literature and the case of a 16-year-old boy who is, to the best of our knowledge, the first Portuguese case with infantile ascending hereditary spastic paraplegia. Clinical investigations included sequencing analysis of the ALS2 gene, which revealed a heterozygous mutation in exon 5 (c.1425_1428del p.G477Afs*19) and a heterozygous and previously unreported variant in exon 3 (c.145G>A p.G49R). We also examined 42 reported cases on the clinical characteristics and neurophysiological and imaging studies of patients with known ALS2 gene mutations sourced from PubMed. This showed that an overlap of phenotypic manifestations can exist in patients with infantile ascending hereditary spastic paraplegia, juvenile primary lateral sclerosis, and juvenile amyotrophic lateral sclerosis.

Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations

Neurogenetics ◽  
2004 ◽  
Vol 5 (3) ◽  
pp. 157-164 ◽  
Author(s):  
Ingrid K. Svenson ◽  
Mark T. Kloos ◽  
P. Craig Gaskell ◽  
Martha A. Nance ◽  
James Y. Garbern ◽  
...  
Keyword(s):  
Hereditary Spastic Paraplegia ◽  
Gene Mutations ◽  
Spastic Paraplegia

scholarly journals Human diseases associated with NTE gene

2020 ◽  
Author(s):  
Pavel A. Melentev ◽  
Olga E Agranovich ◽  
Svetlana V Sarantseva
Keyword(s):  
Nervous System ◽  
Cerebellar Ataxia ◽  
Clinical Features ◽  
Hereditary Spastic Paraplegia ◽  
Gene Mutations ◽  
Spastic Paraplegia ◽  
Protein Activity ◽  
Activity Inhibition ◽  
Current Review ◽  
Pure Cerebellar Ataxia

Evolutionary conserved NTE gene is important for survival and functioning of nervous system cells, its dysfunction leads to various pathologies. Here we describe characteristics of different disorders induced by NTE protein activity inhibition (OPIDN) or by NTE gene mutations: hereditary spastic paraplegia (SPG39), Boucher-Neuhaser, Gordon Holmes, Laurence-Moon, Oliver-McFarlane syndromes, Leber congenital amaurosis, pure cerebellar ataxia. Current review summarises accumulated data about clinical features of NTE associated diseases, presenting them in a historical way of biomedical studies, and observes molecular and genetic causes of these disorders.

Spastin gene mutations in Bulgarian patients with hereditary spastic paraplegia

2006 ◽  
Vol 70 (6) ◽  
pp. 490-495 ◽  
Author(s):  
N Ivanova ◽  
A Löfgren ◽  
I Tournev ◽  
R Rousev ◽  
A Andreeva ◽  
...  
Keyword(s):  
Hereditary Spastic Paraplegia ◽  
Gene Mutations ◽  
Spastic Paraplegia

scholarly journals Extensive In Silico Analysis of ATL1 Gene : Discovered Five Mutations That May Cause Hereditary Spastic Paraplegia Type 3A

Scientifica ◽  
2020 ◽  
Vol 2020 ◽  
pp. 1-13
Author(s):  
Mujahed I. Mustafa ◽  
Naseem S. Murshed ◽  
Abdelrahman H. Abdelmoneim ◽  
Miyssa I. Abdelmageed ◽  
Nafisa M. Elfadol ◽  
...  
Keyword(s):  
Hereditary Spastic Paraplegia ◽  
In Silico ◽  
Computational Analysis ◽  
3D Structure ◽  
Gene Mutations ◽  
In Silico Analysis ◽  
Structural Level ◽  
Spastic Paraplegia ◽  
Analysis Tools ◽  
The Impact

Background. Hereditary spastic paraplegia type 3A (SPG3A) is a neurodegenerative disease inherited type of Hereditary spastic paraplegia (HSP). It is the second most frequent type of HSP which is characterized by progressive bilateral and mostly symmetric spasticity and weakness of the legs. SPG3A gene mutations and the phenotype-genotype correlations have not yet been recognized. The aim of this work was to categorize the most damaging SNPs in ATL1 gene and to predict their impact on the functional and structural levels by several computational analysis tools. Methods. The raw data of ATL1 gene were retrieved from dbSNP database and then run into numerous computational analysis tools. Additionally; we submitted the common six deleterious outcomes from the previous functional analysis tools to I-mutant 3.0 and MUPro, respectively, to investigate their effect on the structural level. The 3D structure of ATL1 was predicted by RaptorX and modeled using UCSF Chimera to compare the differences between the native and the mutant amino acids. Results. Five nsSNPs out of 249 were classified as the most deleterious (rs746927118, rs979765709, rs119476049, rs864622269, and rs1242753115). Conclusions. In this study, the impact of nsSNPs in the ATL1 gene was investigated by various in silico tools that revealed five nsSNPs (V67F, T120I, R217Q, R495W, and G504E) are deleterious SNPs, which have a functional impact on ATL1 protein and, therefore, can be used as genomic biomarkers specifically before 4 years of age; also, it may play a key role in pharmacogenomics by evaluating drug response for this disabling disease.

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