Genetic Variants in Diseases of the Extrapyramidal System
Anna Oczkowska, Wojciech Kozubski, Margarita Lianeri and Jolanta Dorszewska
Affiliation: Laboratory of Neurobiology, Department of Neurology, Poznan University of Medical Sciences, 49 Przybyszewskiego St, 60-355 Poznan, Poland.
Knowledge on the genetics of movement disorders has advanced significantly in recent years. It is now recognized
that disorders of the basal ganglia have genetic basis and it is suggested that molecular genetic data will provide
clues to the pathophysiology of normal and abnormal motor control. Progress in molecular genetic studies, leading to the
detection of genetic mutations and loci, has contributed to the understanding of mechanisms of neurodegeneration and has
helped clarify the pathogenesis of some neurodegenerative diseases. Molecular studies have also found application in the
diagnosis of neurodegenerative diseases, increasing the range of genetic counseling and enabling a more accurate diagnosis.
It seems that understanding pathogenic processes and the significant role of genetics has led to many experiments that
may in the future will result in more effective treatment of such diseases as Parkinson’s or Huntington’s. Currently used
molecular diagnostics based on DNA analysis can identify 9 neurodegenerative diseases, including spinal cerebellar ataxia
inherited in an autosomal dominant manner, dentate-rubro-pallido-luysian atrophy, Friedreich’s disease, ataxia with oculomotorapraxia,
Huntington's disease, dystonia type 1, Wilson’s disease, and some cases of Parkinson's disease.
Keywords: Ataxia, Dystonia, Huntington’s disease, Parkinson’s disease, Wilson’s disease.
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