Implications of genetics on the diagnosis and care of patients with Parkinson disease

Archives of Neurology
Christine Klein

Abstract

The identification of several monogenic forms has established Parkinson disease (PD) as a movement disorder with a considerable genetic origin in at least a subset of patients. Four of the known forms, Parkin-, PINK1 (PTEN-induced putative kinase 1)-, DJ1-, and LRRK2 (leucine-rich repeat kinase 2)-linked PD, may present clinically as "idiopathic PD" and account for at least 1% of all cases of PD. However, all known monogenic forms combined explain about only 20% of early-onset PD and less than 3% of late-onset PD at best. Although the individual clinical course cannot be predicted, overall, many cases of genetic PD will progress more slowly and respond better to treatment than patients without mutations. Genetic testing frequently yields inconclusive results, is expensive, and should be used for diagnostic purposes only after careful consideration in selected cases at specialty centers. While genetic findings have greatly advanced our understanding of the pathophysiology of PD, we are faced with many novel challenges. These include the definition of the phenotypic and genotypic spectrum of the monogenic forms, a revised terminology and classification of parkinsonian syndromes, identification of genetic susceptibility factors, a...Continue Reading

Citations

Apr 9, 2011·Journal of Genetic Counseling·Dana Clay FalconeVivianna M Van Deerlin
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Apr 27, 2007·Der Nervenarzt·S BrandF Schneider
Sep 30, 2008·Brain Research·Chenere P Ramsey, Benoit I Giasson
Jun 22, 2007·Lancet Neurology·Christine KleinAnthony E Lang
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