The molecular genetic and biochemical aspects of neurogenetic disorders (Diseases caused by molecular genetic pathology of structural constituents of nervous system - part 1)
- 1 Ústav lekárskej biológie, genetiky a klinickej genetiky LF UK a UNB,
- Oddelenie molekulovej a biochemickej genetiky, Bratislava
- 2 I. neurologická klinika LF UK a UNB; Nemocnica Staré mesto, Bratislava
(Diseases caused by molecular genetic pathology of structural constituents of nervous system – part 1)
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.
disease, Cerebral cavernous malformations, Cadasil, Ehlers-Danlos syndrome type IV.
Keywords: neurogenetics, Fragile X syndrome, Fragile X tremor/ataxia syndrome, Neurofibromatosis, Tuberous sclerosis, Alzheimer
Published: September 23, 2013 Show citation
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