Genetics of neurodegenerative dementias in ten points –  what can a neurologist expect from molecular genetics?

Authors: E. Parobková 1,2;  R. Rusina 3,4;  M. Matějčková 1;  V. Gregor 1,5;  R. Matěj 1,2,6
Authors‘ workplace: 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 6
Published in: Cesk Slov Neurol N 2019; 82(1): 100-105
Category: Neuropathological window


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.

Key words:

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.

Paediatric neurology Neurosurgery Neurology

Article was published in

Czech and Slovak Neurology and Neurosurgery

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