Citations 2
Multiancestry analysis of the HLA locus in Alzheimer’s and Parkinson’s diseases uncovers a shared adaptive immune response mediated by HLA-DRB1*04 subtypes
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Proceedings of the National Academy of Sciences | August 29, 2023 | Volume: 120 | Issue: 36 | Pages: No page available
Across multiancestry groups, we analyzed Human Leukocyte Antigen (HLA) associations in over 176,000 individuals with Parkinson’s disease (PD) and Alzheimer’s disease (AD) versus controls. We demonstrate that the two diseases share the same protective association at the HLA locus. HLA-specific fine-mapping showed that hierarchical protective effects of HLA-DRB1 *04 subtypes best accounted for the association, strongest with HLA-DRB1 *04:04 and HLA-DRB1 *04:07, and intermediary with HLA-DRB1 *04:01 and HLA-DRB1 *04:03. The same signal was associated with decreased neurofibrillary tangles in postmortem brains and was associated with reduced tau levels in cerebrospinal fluid and to a lower extent with increased Aβ42. Protective HLA-DRB1 *04 subtypes strongly bound the aggregation-prone tau PHF6 sequence, however only when acetylated at a lysine (K311), a common posttranslational modification central to tau aggregation. An HLA-DRB1 *04-mediated adaptive immune response decreases PD and AD risks, potentially by acting against tau, offering the possibility of therapeutic avenues.
ILAE definition of the Idiopathic Generalized Epilepsy Syndromes: Position statement by the ILAE Task Force on Nosology and Definitions
Hirsch, Édouard , French, Jacqueline A. , Scheffer, Ingrid E. , Bogacz, Alicia, Alsaadi, Taoufik , Sperling, Michael R. , Abdulla, Fatema , Zuberi, Sameer M. , Trinka, Eugen , Specchio, Nicola , Somerville, Ernest , Riney, Kate , Nabbout, Rima , Jain, Satish, Wilmshurst, Jo M. , Wiebe, Samuel , Perucca, Emilio , Connolly, Mary , Kochen, Silvia , French, Jacqueline , Samia, Pauline , Nabbout, Rima , Wilmshurst, Jo M , Auvin, Stéphane , Wiebe, Samuel , Perucca, Emilio , Moshé, Solomon L , Wirrell, Elaine C , Sperling, Michael R , Hirsch, Edouard , Scheffer, Ingrid E , Trinka, Eugen , Somerville, Ernest , Specchio, Nicola , Zuberi, Sameer M , Samia, Pauline , Jain, Satish, Auvin, Stéphane , Moshé, Solomon L. , Tinuper, Paolo , Wirrell, Elaine
Epilepsia | May 3, 2022 | Volume: 63 | Issue: 6 | Pages: 1475-1499
Abstract In 2017, the International League Against Epilepsy (ILAE) Classification of Epilepsies described the “genetic generalized epilepsies” (GGEs), which contained the “idiopathic generalized epilepsies” (IGEs). The goal of this paper is to delineate the four syndromes comprising the IGEs, namely childhood absence epilepsy, juvenile absence epilepsy, juvenile myoclonic epilepsy, and epilepsy with generalized tonic–clonic seizures alone. We provide updated diagnostic criteria for these IGE syndromes determined by the expert consensus opinion of the ILAE’s Task Force on Nosology and Definitions (2017–2021) and international external experts outside our Task Force. We incorporate current knowledge from recent advances in genetic, imaging, and electroencephalographic studies, together with current terminology and classification of seizures and epilepsies. Patients that do not fulfill criteria for one of these syndromes, but that have one, or a combination, of the following generalized seizure types: absence, myoclonic, tonic‐clonic and myoclonic‐tonic‐clonic seizures, with 2.5–5.5 Hz generalized spike‐wave should be classified as having GGE. Recognizing these four IGE syndromes as a special grouping among the GGEs is helpful, as they carry prognostic and therapeutic implications.