title: Defining the genetic connection linking amyotrophic lateral sclerosis (ALS) with frontotemporal dementia (FTD).
abstract: Several genetic causes have been recently described for neurological diseases, increasing our knowledge of the common pathological mechanisms involved in these disorders. Mutation analysis has shown common causative factors for two major neurodegenerative disorders, ALS and FTD. Shared pathological and genetic markers as well as common neurological signs between these diseases have given rise to the notion of an ALS/FTD spectrum. This overlap among genetic factors causing ALS/FTD and the coincidence of mutated alleles (including causative, risk and modifier variants) have given rise to the notion of an oligogenic model of disease. In this review we summarize major advances in the elucidation of novel genetic factors in these diseases which have led to a better understanding of the common pathogenic factors leading to neurodegeneration.
authors: Sorbonne Université, Université Pierre et Marie Curie (UPMC), Université de Paris 06, Unité Mixte 75, Institut National de la Santé et de la Recherche Médicale (INSERM) Unité 1127, Centre National de la Recherche Scientifique (CNRS) Unité Mixte de Recherche 7225, Institut du Cerveau et de la Moelle Épinière (ICM), 75013 Paris, France; Institute of Medical Genetics, Policlinico A. Gemelli, Rome, Italy.
authors: Serena
authors: S
authors: Lattante
authors: Sorbonne Université, Université Pierre et Marie Curie (UPMC), Université de Paris 06, Unité Mixte 75, Institut National de la Santé et de la Recherche Médicale (INSERM) Unité 1127, Centre National de la Recherche Scientifique (CNRS) Unité Mixte de Recherche 7225, Institut du Cerveau et de la Moelle Épinière (ICM), 75013 Paris, France.
authors: Sorana
authors: S
authors: Ciura
authors: Neurology and Neurosurgery Department, and Montreal Neurological Institute and Hospital, McGill University, Montréal, Quebec, Canada.
authors: Guy A
authors: GA
authors: Rouleau
authors: Sorbonne Université, Université Pierre et Marie Curie (UPMC), Université de Paris 06, Unité Mixte 75, Institut National de la Santé et de la Recherche Médicale (INSERM) Unité 1127, Centre National de la Recherche Scientifique (CNRS) Unité Mixte de Recherche 7225, Institut du Cerveau et de la Moelle Épinière (ICM), 75013 Paris, France. Electronic address: edor.kabashi@icm-institute.org.
authors: Edor
authors: E
authors: Kabashi
mesh_terms: D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D000818:Animals; D004195:Disease Models, Animal; D057180:Frontotemporal Dementia / Q000235:genetics*; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D006801:Humans; D040582:Inheritance Patterns; D012307:Risk Factors; D057170:Translational Research, Biomedical