title: Is Huntington's disease a tauopathy?
abstract: Tauopathies are a subclass of neurodegenerative diseases typified by the deposition of abnormal microtubule-associated tau protein within the cerebral tissue. Alzheimer's disease, progressive supranuclear palsy, chronic traumatic encephalopathy and some fronto-temporal dementias are examples of the extended family of tauopathies. In the last decades, intermittent reports of cerebral tau pathology in individuals afflicted with Huntington's disease-an autosomal dominant neurodegenerative disorder that manifests by severe motor, cognitive and psychiatric problems in adulthood-have also begun to surface. These observations remained anecdotal until recently when a series of publications brought forward compelling evidence that this monogenic disorder may, too, be a tauopathy. Collectively, these studies reported that: (i) patients with Huntington's disease present aggregated tau inclusions within various structures of the brain; (ii) tau haplotype influences the cognitive function of Huntington's disease patients; and (iii) that the genetic product of the disease, the mutant huntingtin protein, could alter tau splicing, phosphorylation, oligomerization and subcellular localization. Here, we review the past and current evidence in favour of the postulate that Huntington's disease is a new member of the family of tauopathies.
authors.affiliation: Faculté de Médecine, département de Psychiatrie et Neurosciences, Université Laval, Québec, QC, Canada Centre de Recherche du CHU de Québec, Axe Neurosciences, Québec, QC, Canada.
authors.forename: Maud
authors.initials: M
authors.lastname: Gratuze
authors.affiliation: Faculté de Médecine, département de Psychiatrie et Neurosciences, Université Laval, Québec, QC, Canada Centre de Recherche du CHU de Québec, Axe Neurosciences, Québec, QC, Canada.
authors.forename: Giulia
authors.initials: G
authors.lastname: Cisbani
authors.affiliation: Faculté de Médecine, département de Psychiatrie et Neurosciences, Université Laval, Québec, QC, Canada Centre de Recherche du CHU de Québec, Axe Neurosciences, Québec, QC, Canada.
authors.forename: Francesca
authors.initials: F
authors.lastname: Cicchetti
authors.affiliation: Faculté de Médecine, département de Psychiatrie et Neurosciences, Université Laval, Québec, QC, Canada Centre de Recherche du CHU de Québec, Axe Neurosciences, Québec, QC, Canada emmanuel@planel.org francesca.cicchetti@crchudequebec.ulaval.ca.
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Planel
mesh_terms: D000818:Animals; D001921:Brain / Q000378:metabolism / Q000473:pathology; D002986:Clinical Trials as Topic / Q000379:methods; D006801:Humans; D006816:Huntington Disease / Q000235:genetics / Q000378:metabolism* / Q000473:pathology; D010766:Phosphorylation / Q000502:physiology; D024801:Tauopathies / Q000235:genetics / Q000378:metabolism* / Q000473:pathology; D016875:tau Proteins / Q000235:genetics / Q000378:metabolism*
chemical_list: D016875:tau Proteins
keywords: Huntington’s disease; tau