Neurol. praxi. 2013;14(4):169-174

The molecular genetic and biochemical aspects of neurogenetic disorders (Diseases caused by molecular genetic pathology of structural constituents of nervous system - part 1)

doc.MUDr.Ján Chandoga, CSc.¹, MUDr.Petra Jungová¹, RNDr.Katarína Kolejáková, Ph.D.¹, RNDr.Robert Petrovič, PhD.¹, MUDr.Juraj Štofko, MBA²

¹ Oddelenie molekulovej a biochemickej genetiky, Bratislava, Ústav lekárskej biológie, genetiky a klinickej genetiky LF UK a UNB,

² I. neurologická klinika LF UK a UNB; Nemocnica Staré mesto, Bratislava

Many of known genetic disorders are primarily neurologic or have important neurologic involvement. With acceleration of modern

genomic research, over the past twenty years, the molecular genetic basis, molecular pathology and ethiopathology mechanisms of

many neurological diseases have been revealed. Improvement in the DNA laboratory methods allows us to perform reliable and causal

diagnostic of many neurological diseases. But in several disorders such as spinocerebellar ataxia or hereditary spastic paraplegia remains

the searching for molecular pathology still difficult because of number of genes and mutations. Given the abundance of neurogenetical

diseases and limits of this publication we present only a part of the knowledge of selected nosological units. The main accent

is put on the genetic aspects of these diseases. In the first part of this work we present an overview of diseases caused by mutations in

genes that encodes structural constituents of nerve cells and belongs to groups of cerebro-cortical and cerebro-vascular diseases. The

next part will focus to genetic disorders of basal ganglia, spinocereberal and motor neuron diseases.

Keywords: neurogenetics, Fragile X syndrome, Fragile X tremor/ataxia syndrome, Neurofibromatosis, Tuberous sclerosis, Alzheimer disease, Cerebral cavernous malformations, Cadasil, Ehlers-Danlos syndrome type IV.

Published: October 1, 2013  Show citation