Autosomal recessive, early onset parkinsonism (AREP) is genetically heterogeneous. Mutations in the parkin gene (PARK2 locus, chromosome 6q) account for up to 50% of AREP families. The parkin protein displays ubiquitin-ligase activity for different targets, which accumulate in the brain of patients with parkin defect and might cause neurodegeneration. Two new AREP loci (PARK6 and PARK7) have been recently mapped on chromosome 1p and confirmed in independent datasets, suggesting that both might be frequent. The three AREP forms display similar clinical phenotypes. Recruiting new families will help cloning the defective genes at PARK6 and PARK7 loci. This will contribute to unraveling the pathogenesis of AREP, and it is also expected to foster our understanding of molecular events underlying classic Parkinson's disease.
This is a preview of subscription content, log in via an institution to check access.
Access this article Subscribe and saveSpringer+ Basic
€34.99 /Month
Price includes VAT (Germany)
Instant access to the full article PDF.
Similar content being viewed by others Explore related subjectsDiscover the latest articles and news from researchers in related subjects, suggested using machine learning. Author information Authors and AffiliationsDepartment of Neurological Sciences, La Sapienza University, Viale dell'Università 30, I-00185 Rome, Italy, , , , , , IT
V. Bonifati, N. Vanacore, G. Fabbrini, F. Stocchi & G. Meco
Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands. bonifati@kgen.fgg.eur.nl, , , , , , NL
P. Rizzu, B. Oostra & P. Heutink
Department of Epidemiology and Biostatistics, Erasmus University, Rotterdam, The Netherlands, , , , , , NL
M.C.J. Dekker & C.M. van Duijn
Neurogenetics Unit, IRCCS Neuromed, Pozzilli (IS), Italy, , , , , , IT
F. Squitieri
Division of Neurology, Misericordia Hospital, Grosseto, Italy, , , , , , IT
R. Marconi
Department of Neurosciences, Istituti Clinici di Perfezionamento, Milan, Italy, , , , , , IT
A. Antonini
Institute of Neurology, University of Perugia, Perugia, Italy, , , , , , IT
P. Brustenghi & V. Gallai
Division of Neurology, Boldrini Hospital, Thiene (VI), Italy, , , , , , IT
A. Dalla Libera
Institute of Neurology, University of Bari, Bari, Italy, , , , , , IT
M. De Mari
Institute of Neurology, University of Bologna, Bologna, Italy, , , , , , IT
P. Montagna
Department of Neurology, Erasmus Medical Centre Rotterdam, The Netherlands, , , , , , NL
J.C. van Swieten
RID="*"
ID="*"The Italian Parkinson Genetics Network is composed of: G. Abbruzzese, A. Antonini, V. Bonifati, A. Berardelli, P. Brustenghi, M. Cannella, L. Capus, C. Colosimo, G. Coppola, A. Dalla Libera, N. De Leo, M. De Mari, G. De Michele, F. De Pandis, G. De Rosa, C. Di Roma, S. Di Rezze, G. Fabbrini, E. Fabrizio, A. Filla, E. Fincati, V. Gallai, G. Iliceto, P. Lamberti, N. Locuratolo, L. Lopiano, M. Manfredi, R. Marchese, R. Marconi, A. Mauro, E. Martignoni, P. Martinelli, G. Meco, C. Minardi, P. Montagna, G. Pezzoli, C. Scaglione, F. Squitieri, F. Stocchi, A. Tavella, V. Toni, G. Trianni, L. Vacca, N. Vanacore.
Correspondence to V. Bonifati
About this article Cite this articleBonifati, V., Dekker, M., Vanacore, N. et al. Autosomal recessive early onset parkinsonism is linked to three loci: PARK2, PARK6, and PARK7. Neurol Sci 23 (Suppl 2), s59–s60 (2002). https://doi.org/10.1007/s100720200069
Issue Date: September 2002
DOI: https://doi.org/10.1007/s100720200069
RetroSearch is an open source project built by @garambo | Open a GitHub Issue
Search and Browse the WWW like it's 1997 | Search results from DuckDuckGo
HTML:
3.2
| Encoding:
UTF-8
| Version:
0.7.4