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HNPP, peripheral neuropathy, parkin and DJ-1 research

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Research Abstract from Mov Disord. 2004 Aug;19(8):978-81.

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

report.

Abbruzzese G, Pigullo S, Schenone A, Bellone E, Marchese R, Di E,

Benedetti L, Ciotti P, Nobbio L, Bonifati V, Ajmar F, Mandich P.

Department of Neuroscience, Ophthalmology and Genetics, Section of

Neurology, University of Genova, Italy.

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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