CMT AND NEUROGENIC DISEASE

2018 ◽  
Vol 28 ◽  
pp. S134
Author(s):  
S. Cao ◽  
S. Parelkar ◽  
H. Ko ◽  
P. Thompson ◽  
L. Hayward
Keyword(s):  
2018 ◽  
Vol 28 ◽  
pp. S132
Author(s):  
J. Lee ◽  
J. Shin
Keyword(s):  

2018 ◽  
Vol 28 ◽  
pp. S134
Author(s):  
R. Al-dahhak ◽  
J. Conway ◽  
L. Bostan-Shirin
Keyword(s):  

2021 ◽  
Vol 12 ◽  
Author(s):  
Xinran Cui ◽  
Chen Xu ◽  
Liyuan Zhang ◽  
Yadong Wang

Parkinson’s disease (PD) is the second most frequent neurogenic disease after Alzheimer’s disease. The clinical manifestations include mostly motor disorders, such as bradykinesia, myotonia, and static tremors. Since the cause of this pathological features remain unclear, there is currently no radical treatment for PD. Environmental and genetic factors are thought to contribute to the pathology of PD. To identify the genetic factors, some studies employed the Genome-Wide Association Studies (GWAS) method and detected certain genes closely related to PD. However, the functions of these gene mutants in the development of PD are unknown. Combining GWAS and expression Quantitative Trait Loci (eQTL) analysis, the biological meaning of mutation could be explained to some extent. Therefore, the present investigation used Summary data-based Mendelian Randomization (SMR) analysis to integrate of two PD GWAS datasets and four eQTL datasets with the objective of identifying casual genes. Using this strategy, we found six Single Nucleotide Polymorphism (SNP) loci which could cause the development of PD through altering the susceptibility gene expression, and three risk genes: Synuclein Alpha (SNCA), Mitochondrial Poly(A) Polymerase (MTPAP), and RP11-305E6.4. We proved the accuracy of results through case studies and inferred the functions of these genes in PD. Overall, this study provides insights into the genetic mechanism behind PD, which is crucial for the study of the development of this disease and its diagnosis and treatment.


2011 ◽  
Vol 2011 ◽  
pp. 1-5 ◽  
Author(s):  
Farida van Rey ◽  
John Heesakkers

Objective. To assess the efficacy and the effect on Qol of solifenacin for the treatment of OAB in MS patients.Patients and Methods. Thirty MS patients suffering from OAB were treated with solifenacin 5/10 mg for 8 weeks. The first 4 weeks patients received solifenacin 5 mg. At week 4 patients could request a dose increase to 10 mg. The efficacy was evaluated at 8 weeks.Results. After 4 weeks of treatment, 28 patients reported acceptable or no side effects. 17 continued the study with the 10 mg dosage, and 11 stayed on 5 mg solifenacin. Two patients withdrew from the study due to side effects. Solifenacin 5/10 mg for 8 weeks resulted in a significant decrease in number of micturitions and number of pads used per day compared to baseline. Also the severity of urgency prior to voiding decreased significantly, and an increase was seen in the volume per void. Twenty out of 30 patients chose to continue solifenacin therapy after termination of the study. The majority of patients reported global QoL improvement.Conclusions. Solifenacin is effective in the treatment of MS patients with OAB symptoms. This is the first study with solifenacin in a specific neurogenic patient group with a neurogenic disease-specific QoL outcome measure (MS-QoL 54).


2018 ◽  
Vol 28 ◽  
pp. S133
Author(s):  
E. Cavassa ◽  
M. Muntadas ◽  
M. Pauni ◽  
M. Garcia Erro ◽  
G. Vazquez
Keyword(s):  

2018 ◽  
Vol 28 ◽  
pp. S133
Author(s):  
E. Estephan ◽  
P. Sampaio ◽  
F. Souza ◽  
M. Rocha ◽  
E. Zanoteli ◽  
...  
Keyword(s):  

1989 ◽  
Vol 12 (8) ◽  
pp. 679-689 ◽  
Author(s):  
Judith A. Sawchak ◽  
Simeon Lewis ◽  
Saiyid A. Shafiq

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