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 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.
Abbruzzese
Giovanni
G
Department of Neuroscience, Ophthalmology and Genetics, Section of Neurology, University of Genova, Italy.
Pigullo
Simona
S
Schenone
Angelo
A
Bellone
Emilia
E
Marchese
Roberta
R
Di Maria
Emilio
E
Benedetti
Luana
L
Ciotti
Paola
P
Nobbio
Lucilla
L
Bonifati
Vincenzo
V
Ajmar
Franco
F
Mandich
Paola
P
D000368:Aged; D001706:Biopsy / Q000379:methods; D004252:DNA Mutational Analysis / Q000379:methods; D005192:Family Health; D005808:Genes, Recessive; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008297:Male; D009154:Mutation / Q000235:genetics; D009460:Neurologic Examination; D015513:Oncogene Proteins / Q000235:genetics; D010243:Paralysis / Q000209:etiology / Q000235:genetics / Q000473:pathology; D010300:Parkinson Disease / Q000235:genetics*; D010523:Peripheral Nervous System Diseases / Q000150:complications / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D000071617:Protein Deglycase DJ-1; D012333:RNA, Messenger / Q000096:biosynthesis; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods; D013497:Sural Nerve / Q000378:metabolism* / Q000473:pathology; D044767:Ubiquitin-Protein Ligases / Q000235:genetics* / Q000502:physiology
D047908:Intracellular Signaling Peptides and Proteins; D015513:Oncogene Proteins; D012333:RNA, Messenger; D044767:Ubiquitin-Protein Ligases; C111567:parkin protein; C105131:PARK7 protein, human; D000071617:Protein Deglycase DJ-1