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.

scholarly journals Current Knowledge of Endolysosomal and Autophagy Defects in Hereditary Spastic Paraplegia

Cells ◽  
2021 ◽  
Vol 10 (7) ◽  
pp. 1678
Author(s):  
Liriopé Toupenet Marchesi ◽  
Marion Leblanc ◽  
Giovanni Stevanin
Keyword(s):  
Nervous System ◽  
Motor Neurons ◽  
Neurological Disorders ◽  
Hereditary Spastic Paraplegia ◽  
Current Knowledge ◽  
Spastic Paraplegia ◽  
Functional Convergence ◽  
The Common ◽  
Hsp Genes

Hereditary spastic paraplegia (HSP) refers to a group of neurological disorders involving the degeneration of motor neurons. Due to their clinical and genetic heterogeneity, finding common effective therapeutics is difficult. Therefore, a better understanding of the common pathological mechanisms is necessary. The role of several HSP genes/proteins is linked to the endolysosomal and autophagic pathways, suggesting a functional convergence. Furthermore, impairment of these pathways is particularly interesting since it has been linked to other neurodegenerative diseases, which would suggest that the nervous system is particularly sensitive to the disruption of the endolysosomal and autophagic systems. In this review, we will summarize the involvement of HSP proteins in the endolysosomal and autophagic pathways in order to clarify their functioning and decipher some of the pathological mechanisms leading to HSP.

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.

A series of Greek children with pure hereditary spastic paraplegia: clinical features and genetic findings

2016 ◽  
Vol 263 (8) ◽  
pp. 1604-1611 ◽  
Author(s):  
Alexandros A. Polymeris ◽  
Alessandra Tessa ◽  
Katherine Anagnostopoulou ◽  
Anna Rubegni ◽  
Daniele Galatolo ◽  
...  
Keyword(s):  
Clinical Features ◽  
Hereditary Spastic Paraplegia ◽  
Spastic Paraplegia

scholarly journals Novel De Novo Mutations in KIF1A as a Cause of Hereditary Spastic Paraplegia With Progressive Central Nervous System Involvement

2016 ◽  
Vol 31 (9) ◽  
pp. 1114-1119 ◽  
Author(s):  
Leslie Hotchkiss ◽  
Sandra Donkervoort ◽  
Meganne E. Leach ◽  
Payam Mohassel ◽  
Diana X. Bharucha-Goebel ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Hereditary Spastic Paraplegia ◽  
De Novo ◽  
Central Nervous System Involvement ◽  
Spastic Paraplegia ◽  
De Novo Mutations ◽  
System Involvement

Clinical features of hereditary spastic paraplegia due to spastin mutation

Neurology ◽  
2006 ◽  
Vol 67 (1) ◽  
pp. 45-51 ◽  
Author(s):  
C. J. McDermott ◽  
C. E. Burness ◽  
J. Kirby ◽  
L. E. Cox ◽  
D. G. Rao ◽  
...  
Keyword(s):  
Clinical Features ◽  
Hereditary Spastic Paraplegia ◽  
Spastic Paraplegia

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

scholarly journals Hereditary Spastic Paraplegia: Beyond Clinical Phenotypes toward a Unified Pattern of Central Nervous System Damage

Radiology ◽  
2015 ◽  
Vol 276 (1) ◽  
pp. 207-218 ◽  
Author(s):  
Federica Agosta ◽  
Marina Scarlato ◽  
Edoardo G. Spinelli ◽  
Elisa Canu ◽  
Sara Benedetti ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Hereditary Spastic Paraplegia ◽  
Spastic Paraplegia ◽  
Central Nervous System Damage ◽  
Clinical Phenotypes

Novel mutations in the ALDH18A1 gene in complicated hereditary spastic paraplegia with cerebellar ataxia and cognitive impairment

2018 ◽  
Vol 63 (9) ◽  
pp. 1009-1013 ◽  
Author(s):  
Kishin Koh ◽  
◽  
Hiroyuki Ishiura ◽  
Minako Beppu ◽  
Haruo Shimazaki ◽  
...  
Keyword(s):  
Cognitive Impairment ◽  
Cerebellar Ataxia ◽  
Hereditary Spastic Paraplegia ◽  
Spastic Paraplegia ◽  
Novel Mutations
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