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.

Does parkin play a role in the peripheral nervous system? A family report

ABBRUZZESE, GIOVANNI;SCHENONE, ANGELO;BELLONE, EMILIA;DI MARIA, EMILIO;NOBBIO, LUCILLA;AJMAR, FRANCO;MANDICH, PAOLA
2004

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.
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11567/247870
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