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Journal of Medical Genetics 2002;39:489-492; doi:10.1136/jmg.39.7.489
Copyright © 2002 by the BMJ Publishing Group Ltd.
Journal of Medical Genetics 2002;39:489-492
© 2002 Journal of Medical Genetics

LETTER TO JMG

Linkage stratification and mutation analysis at the parkin locus identifies mutation positive Parkinson's disease families

W C Nichols1, N Pankratz2, S K Uniacke1, M W Pauciulo1, C Halter2, A Rudolph3, P M Conneally2, T Foroud2 The Parkinson Study Group

1 Division of Human Genetics, Children's Hospital Medical Center, Cincinnati, OH, USA
2 Department of Medical and Molecular Genetics, Indiana University Medical Center, Indianapolis, IN, USA
3 Department of Neurology, University of Rochester, Rochester, NY, USA

Correspondence to:
Correspondence to:
Dr W C Nichols, Division of Human Genetics, Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229, USA;
bill.nichols@chmcc.org

Keywords: Parkinson's disease; parkin locus; linkage

The first 150 words of the full text of this article appear below.

Parkinson's disease (PD) is one of the most common neurological disorders in humans with an overall prevalence of 1:1000 with the incidence increasing to as high as 3.4% among people aged 75 years.1,2 The clinical phenotype includes resting tremor, muscular rigidity, bradykinesia, and postural instability. The signs and symptoms of the disease are the consequence of a striatal deficiency of dopamine resulting from neuronal death in the substantia nigra. It is characterised by the presence of the Lewy body, an intracytoplasmic inclusion body found in many brain regions which is not entirely specific to, but is a highly sensitive marker for, Parkinson's disease.

The pathogenesis of idiopathic Parkinson's disease is unknown. For the overwhelming majority of PD patients, the disease has previously been thought to occur sporadically. However, there is increasing evidence of a genetic contribution to the disorder.1,3 Recently, two studies have investigated familial aggregation of PD using large, . . . [Full text of this article]


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