Département de Neurologie

Jan 16, 2025 | link.springer.com | Natalia Hernandez |Université de Bordeaux |Département de Neurologie

Dear Sirs,AP4 is an adaptor protein crucial for vesicle and endosomal trafficking from the trans-Golgi network consisting of four subunits, namely AP4B1, AP4M1, AP4E1 and AP4S1 [1] [2]. Biallelic variations in AP4B1 (MIM 607245) have been primarily described in a syndromic form of autosomal recessive spastic paraplegia known as “SPG47” (MIM 614066) [3].

Apr 4, 2024 | actaneurocomms.biomedcentral.com | Juan Manuel |Université d’Angers |Département de Neurologie

Ethics approval and consent to participate The studies discussed in this letter have been performed in accordance with the Declaration of Helsinki. They were approved by the Ethical Committee of the University Hospital of Angers (Comité de Protection des Personnes CPP Ouest II, Angers, France; identification number: CPP CB 2014/02; declaration number: DC-2011-1467; authorization number: AC-2017-2993). All participants provided a written informed consent.

Mar 1, 2024 | academic.oup.com | Institut du Cerveau |Département de Neurologie |CIC Neurosciences

This scientific commentary refers to ‘Machine learning nominates the inositol pathway and novel genes in Parkinson’s disease’ by Yu et al. (https://doi.org/10.1093/brain/awad345). Recent genome-wide association studies (GWAS) have identified 90 independent risk variants for idiopathic Parkinson’s disease at 78 loci scattered across the genome.1 Each of these variants individually confers a low risk of developing Parkinson’s disease, rendering the disease polygenic.