C19orf12 mutation leads to a pallido-pyramidal syndrome.

Détails

Ressource 1Télécharger: BIB_BF6794703E84.P001.pdf (598.92 [Ko])
Etat: Public
Version: de l'auteur
ID Serval
serval:BIB_BF6794703E84
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
C19orf12 mutation leads to a pallido-pyramidal syndrome.
Périodique
Gene
Auteur(s)
Kruer M.C., Salih M.A., Mooney C., Alzahrani J., Elmalik S.A., Kabiraj M.M., Khan A.O., Paudel R., Houlden H., Azzedine H., Alkuraya F.
ISSN
1879-0038 (Electronic)
ISSN-L
0378-1119
Statut éditorial
Publié
Date de publication
2014
Peer-reviewed
Oui
Volume
537
Numéro
2
Pages
352-356
Langue
anglais
Notes
Publication types: Case Reports ; Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't Publication Status: ppublish PDF: Short Communication
Résumé
Pallido-pyramidal syndromes combine dystonia with or without parkinsonism and spasticity as part of a mixed neurodegenerative disorder. Several causative genes have been shown to lead to pallido-pyramidal syndromes, including FBXO7, ATP13A2, PLA2G6, PRKN and SPG11. Among these, ATP13A2 and PLA2G6 are inconsistently associated with brain iron deposition. Using homozygosity mapping and direct sequencing in a multiplex consanguineous Saudi Arabian family with a pallido-pyramidal syndrome, iron deposition and cerebellar atrophy, we identified a homozygous p.G53R mutation in C19orf12. Our findings add to the phenotypic spectrum associated with C19orf12 mutations.
Mots-clé
Adolescent, Amino Acid Motifs, Blepharospasm/etiology, Blepharospasm/genetics, Computer Simulation, Consanguinity, Female, Globus Pallidus, Homozygote, Humans, Male, Mitochondrial Proteins/genetics, Mitochondrial Proteins/metabolism, Mutation, Parkinson Disease, Secondary/etiology, Parkinson Disease, Secondary/genetics, Pedigree, Saudi Arabia, Young Adult
Pubmed
Web of science
Open Access
Oui
Création de la notice
06/08/2014 18:59
Dernière modification de la notice
20/08/2019 15:33
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