Characterization of Recessive Parkinson Disease in a Large Multicenter Study.
Adolescent
Adult
Aged
Aged, 80 and over
Child
DNA Mutational Analysis
Female
Genes, Recessive
/ genetics
Genetic Predisposition to Disease
/ genetics
Humans
Male
Middle Aged
Mutation
Parkinson Disease
/ genetics
Protein Deglycase DJ-1
/ genetics
Protein Kinases
/ genetics
Ubiquitin-Protein Ligases
/ genetics
Young Adult
Journal
Annals of neurology
ISSN: 1531-8249
Titre abrégé: Ann Neurol
Pays: United States
ID NLM: 7707449
Informations de publication
Date de publication:
10 2020
10 2020
Historique:
received:
15
10
2019
revised:
17
05
2020
accepted:
18
05
2020
entrez:
13
10
2020
pubmed:
14
10
2020
medline:
15
12
2020
Statut:
ppublish
Résumé
Studies of the phenotype and population distribution of rare genetic forms of parkinsonism are required, now that gene-targeting approaches for Parkinson disease have reached the clinical trial stage. We evaluated the frequencies of PRKN, PINK1, and DJ-1 mutations in a cohort of 1,587 cases. Mutations were found in 14.1% of patients; 27.6% were familial and 8% were isolated. PRKN was the gene most frequently mutated in Caucasians, whereas PINK1 mutations predominated in Arab-Berber individuals. Patients with PRKN mutations had an earlier age at onset, and less asymmetry, levodopa-induced motor complications, dysautonomia, and dementia than those without mutations. ANN NEUROL 2020;88:843-850.
Identifiants
pubmed: 33045815
doi: 10.1002/ana.25787
pmc: PMC8944279
mid: NIHMS1789404
doi:
Substances chimiques
Ubiquitin-Protein Ligases
EC 2.3.2.27
parkin protein
EC 2.3.2.27
Protein Kinases
EC 2.7.-
PTEN-induced putative kinase
EC 2.7.11.1
PARK7 protein, human
EC 3.1.2.-
Protein Deglycase DJ-1
EC 3.1.2.-
Types de publication
Journal Article
Multicenter Study
Research Support, N.I.H., Intramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
843-850Subventions
Organisme : Intramural NIH HHS
ID : Z01 AG000949
Pays : United States
Organisme : Intramural NIH HHS
ID : Z01 AG000958
Pays : United States
Organisme : Intramural Research Program of the National Institute on Aging, National Institutes of Health, Department of Health and Human Services
ID : ZO1 AG000949
Pays : International
Investigateurs
Suzanne Lesage
(S)
Ariane Lunati
(A)
Marion Houot
(M)
Sawssan Ben Romdhan
(S)
Fabienne Clot
(F)
Christelle Tesson
(C)
Graziella Mangone
(G)
Benjamin Le Toullec
(B)
Thomas Courtin
(T)
Kathy Larcher
(K)
Mustapha Benmahdjoub
(M)
Mohammed Arezki
(M)
Ahmed Bouhouche
(A)
Mathieu Anheim
(M)
Emmanuel Roze
(E)
François Viallet
(F)
François Tison
(F)
Emmanuel Broussolle
(E)
Murat Emre
(M)
Hasmet Hanagasi
(H)
Basar Bilgic
(B)
Mouna Ben Djebara
(M)
Riadh Gouider
(R)
Meriem Tazir
(M)
Christine Tranchant
(C)
Marie Vidailhet
(M)
Eric Le Guern
(E)
Olga Corti
(O)
Chokri Mhiri
(C)
Ebba Lohmann
(E)
Andy Singleton
(A)
Jean-Christophe Corvol
(JC)
Alexis Brice
(A)
Informations de copyright
© 2020 American Neurological Association.
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