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

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 expe...

Full description

Saved in:
Bibliographic Details
Published in:Movement disorders 2004-08, Vol.19 (8), p.978-981
Main Authors: Abbruzzese, Giovanni, Pigullo, Simona, Schenone, Angelo, Bellone, Emilia, Marchese, Roberta, Di Maria, Emilio, Benedetti, Luana, Ciotti, Paola, Nobbio, Lucilla, Bonifati, Vincenzo, Ajmar, Franco, Mandich, Paola
Format: Article
Language:English
Subjects:
Aged
Biological and medical sciences
Biopsy - methods
DNA Mutational Analysis - methods
Family Health
Genes, Recessive
Humans
Intracellular Signaling Peptides and Proteins
Male
Medical sciences
Mutation - genetics
Neurologic Examination
Neurology
Oncogene Proteins - genetics
Paralysis - etiology
Paralysis - genetics
Paralysis - pathology
parkin
Parkinson Disease - genetics
Parkinson's disease
Peripheral Nervous System Diseases - complications
Peripheral Nervous System Diseases - genetics
Peripheral Nervous System Diseases - metabolism
Peripheral Nervous System Diseases - pathology
peripheral neuropathy
Protein Deglycase DJ-1
Reverse Transcriptase Polymerase Chain Reaction - methods
RNA, Messenger - biosynthesis
Sural Nerve - metabolism
Sural Nerve - pathology
Ubiquitin-Protein Ligases - genetics
Ubiquitin-Protein Ligases - physiology
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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. © 2004 Movement Disorder Society
ISSN:0885-3185
1531-8257
DOI:10.1002/mds.20113