-
Tytuł:
-
Characterization of Recessive Parkinson Disease in a Large Multicenter Study.
-
Autorzy:
-
Lesage, Suzanne
Lunati, Ariane
Houot, Marion
Romdhan, Sawssan Ben
Clot, Fabienne
Tesson, Christelle
Mangone, Graziella
Toullec, Benjamin Le
Courtin, Thomas
Larcher, Kathy
Benmahdjoub, Mustapha
Arezki, Mohamed
Bouhouche, Ahmed
Anheim, Mathieu
Roze, Emmanuel
Viallet, François
Tison, François
Broussolle, Emmanuel
Emre, Murat
Hanagasi, Hasmet
-
Temat:
-
PARKINSON'S disease
DYSAUTONOMIA
AGE of onset
PARKINSONIAN disorders
CLINICAL trials
PROTEIN kinases
BERBERS
GENETIC mutation
SEQUENCE analysis
ENZYMES
DISEASE susceptibility
GENES
RESEARCH funding
-
Źródło:
-
Annals of Neurology; Oct2020, Vol. 88 Issue 4, p843-850, 8p
-
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. [ABSTRACT FROM AUTHOR]
Copyright of Annals of Neurology is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)