scholarly journals Advances in mechanisms of genetic instability related to hereditary neurological diseases

2005 ◽  
Vol 33 (12) ◽  
pp. 3785-3798 ◽  
Author(s):  
R. D. Wells
Keyword(s):  
Genetic Instability ◽  
Neurological Diseases ◽  
Hereditary Neurological Diseases

scholarly journals Genetic defects in ion channels and neurological diseases in clinical, genetic and physiological aspects

2000 ◽  
Vol XXXII (1-2) ◽  
pp. 52-61
Author(s):  
A. L. Zefirov ◽  
E. I. Bogdanov ◽  
A. T. Zabbarova ◽  
M. A. Mukhamedyarov
Keyword(s):  
Ion Channels ◽  
Neurological Diseases ◽  
Genetic Defects ◽  
Clinical Genetic ◽  
Channel Proteins ◽  
Physiological Processes ◽  
Genes Encoding ◽  
Ion Channel Proteins ◽  
Angle Of View ◽  
Hereditary Neurological Diseases

Since the 90s, mutations in genes encoding ion channel proteins have been described. These mutations are responsible for the development of a number of neurological diseases called canalopathies (CP) [30, 36]. It is of interest to study the clinical features of hereditary neurological diseases, the pathogenesis of which are genetic defects in ion channels, from a single angle of view, as well as an attempt to analyze the probable physiological processes underlying these diseases. This approach may be important for a new systematization of these diseases, usually belonging to different groups, and for the development of a modern strategy for their therapy.

scholarly journals Problems of early diagnosis of hereditary neurological diseases

2021 ◽  
Vol 66 (4) ◽  
pp. 8-15
Author(s):  
S. N. Illarioshkin ◽  
Yu. A. Seliverstov ◽  
S. A. Klyushnikov
Keyword(s):  
Early Diagnosis ◽  
Neurological Diseases ◽  
Substantial Part ◽  
Monogenic Disorders ◽  
Disease Modifying Therapy ◽  
Modern Methods ◽  
Pathogenetic Therapy ◽  
Neurological Conditions ◽  
Disease Modifying ◽  
Hereditary Neurological Diseases

Hereditary neurological diseases represent a substantial part of human monogenic disorders. Most of them are progressive, disabling,and lacking disease-modifying therapy. Early diagnosis of severe genetic neurological conditions is essentialfor primaryand secondary prevention, genetic counseling and family planning. Modern methods of prenatal and preimplantation DNA diagnostics significantly reduce the likelihood of havinga sickchild. At the same time, neonatal and selective screening of newborns and young children makes it possible to diagnose hereditary neurological diseases as early as possible and to start pathogenetic therapy, which is currently available for a number of pathologies. The widespreadintroduction of biochemical and molecular diagnostics of the hereditary neurological diseases in patients of various ages, including modern methods of massive parallel sequencing, gives rise to technological, ethical and financial problems.

5-29-05 DNA diagnostics in Russian families with hereditary neurological diseases

1997 ◽  
Vol 150 ◽  
pp. S314
Author(s):  
S. Illarioshkin ◽  
I. Ivanova-Smolenskaya ◽  
I. Ovchinnikov ◽  
S. Klyushnikov ◽  
E. Markova ◽  
...  
Keyword(s):  
Neurological Diseases ◽  
Dna Diagnostics ◽  
Hereditary Neurological Diseases

scholarly journals Follow-up nationwide survey on predictive genetic testing for late-onset hereditary neurological diseases in Japan

2013 ◽  
Vol 58 (8) ◽  
pp. 560-563 ◽  
Author(s):  
Keiko Tanaka ◽  
Yoshiki Sekijima ◽  
Kunihiro Yoshida ◽  
Mariko Tamai ◽  
Tomoki Kosho ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Late Onset ◽  
Neurological Diseases ◽  
Nationwide Survey ◽  
Predictive Genetic Testing ◽  
Hereditary Neurological Diseases
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