Neurol. praxi. 2013;14(5):328-332

The molecular genetic and biochemical aspects of neurogenetic disorders

doc.MUDr.Ján Chandoga, CSc.¹, MUDr.Petra Jungová¹, RNDr.Katarína Kolejáková¹, RNDr.Robert Petrovič, PhD.¹, MUDr.Juraj Štofko, MBA²

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

genetiky, Nemocnica Staré mesto, 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 2

In this paper we present selected neurogenetic diseases affecting the basal ganglia, spinocerebellar disorders and diseases associated

with disabilities of motor and peripheral neurons. We describe Huntington’s, Parkinson’s, Friedreich’s disease, spinocerebellar ataxias,

amyotrophic lateral sclerosis, spinal and bulbar muscular atrophy, spinal muscular atrophy, hereditary spastic paraplegias, Charcot-Marie-

-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsy. We are dedicated to the incidence, molecular genetic

causes of diseases and forms of inheritance. We also briefly describe pathobiochemical aspect of diseases and the clinical symptoms.

These disease entities are usually manifested with severe symptoms, but clinical presentations are not always typical that due difficulties

in differential diagnosing of diseases. To determine or confirm the diagnosis the molecular genetic testing is very helpful. The acquired

information is also valuable for genetic counselling and for prenatal diagnosis in affected families. The main goal of this work is provide

a brief overview primarily focused on molecular genetic causes of these diseases.

system, molecular genetic diagnosis, incidence, inheritance, clinical manifestation.

Keywords: neurogenetics, basal ganglia disease, spinocerebellar disorders, motor neuron diseases, diseases of the peripheral nervous

Published: October 15, 2013  Show citation