Genetics of neurodegenerative dementias in ten points – what can a neurologist expect from molecular genetics?
E. Parobková 1,2; R. Rusina 3,4; M. Matějčková 1; V. Gregor 1,5; R. Matěj 1,2,6
Ústav patologie a molekulární medicíny, 3. LF UK a Thomayerova nemocnice, Praha
1; Ústav patologie, 3. LF UK a FN Královské Vinohrady, Praha
2; Neurologická klinika 3. LF UK a Thomayerova nemocnice, Praha
3; Neurologická klinika a Centrum klinických neurověd, 1. LF UK a VFN v Praze
4; Oddělení lékařské genetiky, Thomayerova nemocnice, Praha
5; Ústav patologie, 1. LF UK a VFN v Praze
Cesk Slov Neurol N 2019; 82(1): 100-105
Over the past three decades, significant advances have been made in understanding the molecular etiology of hereditary neurodegenerative dementias. Specific genes responsible for hereditary neurodegenerative diseases have been discovered, and studies on the development of disease-modifying therapies have been accelerated. Most neurodegenerative dementias are clinically different, although they share a common pathophysiological background. In neurodegeneration, neuronal atrophy due to apoptotic signaling pathway influenced by deposition of pathologically altered protein in the brain tissue are the leading mechanisms, thus, these diseases are called proteinopathies. In genetic (hereditary) neurodegenerations, conformational changes of proteins, gene aberrations or polymorphisms play crucial roles in pathophysiological mechanisms. Clinical manifestations and neuropathological findings of hereditary forms of neurodegenerative dementia are often inseparable from sporadic types, which increases an urgent need for molecular-genetic analysis of genes responsible for various neurodegenerations. The purpose of this work is to provide a brief overview of the most important genes related to the pathophysiology of neurodegenerative dementias in routine diagnostic practice and the possibilities of their detection.
neurodegenerative disorder – dementia – pathogenic mutation
The authors declare they have no potential conflicts of interest concerning drugs, products, or services used in the study.
The Editorial Board declares that the manuscript met the ICMJE “uniform requirements” for biomedical papers.