1. Autosomal dominant Parkinson’s disease in a large German pedigree
- Author
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W. Külper, Peter Bauer, Olaf Riess, Thora Lohnau, Peter P. Pramstaller, Katja Lohmann, Arndt Rolfs, Andreas Sprenger, Reiner Siebert, Susen Winkler, Peter Vieregge, Norbert Brüggemann, Johann Hagenah, Holger Tönnies, C. Pattaro, Vera Tadic, and Christine Klein
- Subjects
Genetics ,0303 health sciences ,Movement disorders ,Parkinson's disease ,Parkinsonism ,General Medicine ,Disease ,Degeneration (medical) ,Biology ,medicine.disease ,nervous system diseases ,03 medical and health sciences ,0302 clinical medicine ,Neurology ,Genetic linkage ,Etiology ,medicine ,Neurology (clinical) ,Age of onset ,medicine.symptom ,10. No inequality ,030217 neurology & neurosurgery ,030304 developmental biology - Abstract
Parkinson¢s disease (PD) is a common disablingneurodegenerative disorder characterized bybradykinesia, rest tremor, rigidity, and posturalinstability with a prevalence of 2% in elderlypersons (1). Although the causative mechanismsare poorly understood for the classical form of PD,a genetic contribution to its etiology has unambig-uously been demonstrated. To date, at least eightgenes have been identified in families with inheritedparkinsonism, either with an autosomal recessivemode of inheritance [Parkin⁄PARK2 (2), PINK1⁄-PARK6 (3), DJ-1⁄PARK7 (4), ATP13A2⁄PARK9(5), PLA2G6⁄PARK14 (6), and FBXO7⁄PARK15(7)] or dominant transmission [SNCA⁄PARK1 (8)and LRRK2⁄PARK8 (9, 10)]. Moreover, severalgenes were shown to influence the susceptibility toor the age of onset of PD although the results arepartially inconsistent, for example, as for poly-morphisms in the apolipoprotein E gene (11, 12).Although parkinsonism is the clinical hallmarkof all of these inherited forms, there is evidence formarked intrafamilial phenotypic variability includ-ing cognitive and psychiatric disturbances, dysto-nia, or isolated tremor in at least a subset ofpedigrees. In some cases, there is also phenotypicoverlap with a subtype of hereditary fronto-temporal lobar degeneration combined withparkinsonism, caused by mutations in the
- Published
- 2011
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