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Genetics of Parkinsonism: a review

Vaughan, JR; Davis, MB; Wood, NW; (2001) Genetics of Parkinsonism: a review. ANN HUM GENET , 65 111 - 126.

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Abstract

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 Levy bodies and massive losses 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, how 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 genetic factors has now become firmly established.

Type: Article
Title: Genetics of Parkinsonism: a review
Keywords: PROGRESSIVE SUPRANUCLEAR PALSY, MULTIPLE SYSTEM ATROPHY, POSITRON EMISSION TOMOGRAPHY, MONOAMINE-OXIDASE-B, AUTOSOMAL-DOMINANT PARKINSONISM, RECESSIVE JUVENILE PARKINSONISM, GLIAL CYTOPLASMIC INCLUSIONS, ALPHA-SYNUCLEIN GENE, EARLY-ONSET, DEBRISOQUINE 4-HYDROXYLASE
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical and Movement Neurosciences
URI: http://discovery.ucl.ac.uk/id/eprint/140224
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