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Trends Genet. 2015 May;31(5):263-73. doi: 10.1016/j.tig.2015.03.005. Epub 2015 Apr 10.

Defining the genetic connection linking amyotrophic lateral sclerosis (ALS) with frontotemporal dementia (FTD).

Author information

1
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.
2
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.
3
Neurology and Neurosurgery Department, and Montreal Neurological Institute and Hospital, McGill University, Montréal, Quebec, Canada.
4
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.

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.

PMID:
25869998
DOI:
10.1016/j.tig.2015.03.005
[Indexed for MEDLINE]

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