Two genes were identified for autosomal recessive forms of early onset Parkinson's disease: parkin and DJ-1. We describe 2 siblings with EOPD due to parkin mutations and peripheral neuropathy, which presented as neuropathy with liability to pressure palsies (HNPP) in the index case. RT-PCR experiments revealed that the parkin gene is expressed in sural nerves from both controls and patient with parkin-related disease. Our findings support the view that parkin may play a role in the peripheral nervous system.

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Movement Disorders
Department of Clinical Genetics

Abbruzzese, G, Pigullo, S, Schenone, A, Bellone, E, Marchese, R, Di Maria, E, … Mandich, P. (2004). Does parkin play a role in the peripheral nervous system? A family report. Movement Disorders, 19(8), 978–981. doi:10.1002/mds.20113