Environmental and genetic risk factors in Parkinson's disease: A case–control study in southern italy

“…Several case-control studies have consistently indicated that PD is more common among relatives of index patients with PD compared with a matched control population, as between 6 and 30 % of index patients had first-or seconddegree affected relatives (Lazzarini et al 1994 ;Payami et al 1994 ;Bonifati et al 1995 ;De Michele et al 1996 ;Marder et al 1996). However, these studies were subject to recall bias.…”

Section: Epidemiological Studiesmentioning

confidence: 99%

Genetics of Parkinsonism: a review

VAUGHAN¹,

DAVIS²,

WOOD³

2001

Annals of Human Genetics

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Idiopathic Parkinson's disease (IPD), a progressive neurodegenerative disorder, is a common cause of disability. No current therapies modify disease progression. The pathological hallmarks are the presence of Lewy bodies and massive loss of dopaminergic neurons in the pars compacta of the substantia nigra. Two genes (SNCA and parkin) as well as two gene loci have now been implicated in the pathogenesis of familial PD. These represent significant progress in our understanding of the disease, considering the rarity of large families, low heritability in the general population and genetic heterogeneity. Mutations in a further gene, UCHL1, have been described in familial PD although the evidence for its role in PD is less clear. Knowledge of the genes described in PD to date should help to define molecular mechanisms of neurodegeneration in PD, as well as in other diseases where defects in protein handling may be a common feature. Nigral degeneration with Lewy body formation and the resulting clinical picture of PD may represent a final common pathway of a multifactorial disease process in which both environmental and genetic factors have a role. This review discusses the major advances in the field to date and illustrates how the existence of genetic factors has now become firmly established.

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“…A relationship between PD and brain injury has been found in multiple studies, although epidemiological investigations did not consistently confirm it [129][130][131]. In addition, the sporadic associations that have been observed could be confounded or mediated by other variables.…”

Section: Traumatic Brain Injury and Pd Incidencementioning

confidence: 94%