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Does parkin play a role in the peripheral nervous system? A family report |
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| Authors: | Giovanni Abbruzzese Simona Pigullo Angelo Schenone Emilia Bellone Roberta Marchese Emilio Di Maria Luana Benedetti Paola Ciotti Lucilla Nobbio Vincenzo Bonifati Franco Ajmar Paola Mandich |
| Affiliation: | Department of Neuroscience, Ophthalmology and Genetics, Section of Neurology, University of Genova, Italy. |
| Abstract: | 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. |
| Keywords: | Parkinson's disease parkin peripheral neuropathy |