Neurológia pre prax 5/2013

Molekulárno-genetické a biochemické aspekty niektorých dedičných neurologických ochorení Ochorenia podmienené molekulárno-genetickými patológiami štrukturálnych konštituentov nervového systému – 2. časť

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.

Keywords: neurogenetics, basal ganglia disease, spinocerebellar disorders, motor neuron diseases, diseases of the peripheral nervous system, molecular genetic diagnosis, incidence, inheritance, clinical manifestation.