Parkinson's Disease Due to Extra Genes

Background: Parkinson's disease is, after Alzheimer's disease, the most common neurodegenerative disease. The four main symptoms of Parkinson's disease are tremors, rigidity of the limbs, slowness of movement, and impaired balance and coordination. Since 1997 it has been known that mutations in the gene encoding a protein called alpha-synuclein cause Parkinson's disease in certain families.

Summary: Four copies of the synuclein gene were found instead of the normal two in an Iowa family with hereditary Parkinson's disease. The two extra copies are due to an abnormal triplication of the synuclein gene on one chromosome. The result is too much synuclein. This protein buildup is believed to cause the Parkinson's disease.

Comment: Most common diseases are not simple, and Parkinson's disease is no exception. It is complex and has many different causes. It is hoped that all types of Parkinson's disease lead to the same final pathways, so that the same drugs may help all patients with Parkinson's disease. The accumulation of synuclein appears to be part of the final common pathway to Parkinson's disease.

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Barbara K. Hecht, Ph.D.
Frederick Hecht, M.D.
Medical Editors, MedicineNet.com