Details

Autor(en) / Beteiligte

• West, Andrew
• Periquet, Magali
• Lincoln, Sarah
• Lücking, Christoph B.
• Nicholl, David
• Bonifati, Vincenzo
• Rawal, Nina
• Gasser, Thomas
• Lohmann, Ebba
• Deleuze, Jean-François
• Maraganore, Demetrius
• Levey, Allan
• Wood, Nick
• Dürr, Alexandra
• Hardy, John
• Brice, Alexis
• Farrer, Matt

Titel

Complex relationship between Parkin mutations and Parkinson disease

Ist Teil von

• American journal of medical genetics, 2002-07, Vol.114 (5), p.584-591

Ort / Verlag

New York: Wiley Subscription Services, Inc., A Wiley Company

Erscheinungsjahr

2002

Link zum Volltext

Quelle

MEDLINE

Beschreibungen/Notizen

• Mutations in the Parkin gene cause juvenile and early onset Parkinsonism. While Parkin‐related disease is presumed to be an autosomal‐recessive disorder, cases have been reported where only a single Parkin allele is mutated and raise the possibility of a dominant effect. In this report, we re‐evaluate twenty heterozygous cases and extend the mutation screening to include the promoter and intron/exon boundaries. Novel deletion, point and intronic splice site mutations are described, along with promoter variation. These data, coupled with a complete review of published Parkin mutations, confirms that not only is recessive loss of Parkin a risk factor for juvenile and early onset Parkinsonism but that Parkin haploinsufficiency may be sufficient for disease in some cases. © 2002 Wiley‐Liss, Inc.