Interrupted CAG expansions in ATXN2 gene expand the genetic spectrum of frontotemporal dementias.
acta neuropathol commun. 2018-05-30; 6(1):
DOI: 10.1186/s40478-018-0547-8
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1. Acta Neuropathol Commun. 2018 May 30;6(1):41. doi: 10.1186/s40478-018-0547-8.
Interrupted CAG expansions in ATXN2 gene expand the genetic spectrum of
frontotemporal dementias.
Fournier C(1), Anquetil V(1), Camuzat A(1)(2), Stirati-Buron S(3), Sazdovitch
V(4), Molina-Porcel L(5), Turbant S(1)(4), Rinaldi D(1)(6), Sánchez-Valle
R(5)(7), Barbier M(1), Latouche M(1)(2); Neuro-CEB Neuropathology Network,
Stevanin G(1)(2)(8), Seilhean D(1)(4), Brice A(1)(8), Duyckaerts C(1)(4), Le Ber
I(9)(10).
Collaborators: Letournel F, Vital A, Chapon F, Godfraind C, Maurage CA,
Deramecourt V, Meyronnet D, Streichenberger N, Maues de Paula A, Rigau V,
Vandenbos-Burel F, Seilhean D, Milin S, Chiforeanu DC, Laquerrière A, Lannes B.
Author information:
(1)Institut du Cerveau et la Moelle épinière (ICM), Sorbonne Université, UPMC
Univ Paris 06, Inserm U1127, CNRS UMR 7225, Hôpital Pitié-Salpêtrière, Paris,
France.
(2)Ecole Pratique des Hautes Etudes – EPHE, PSL research University, 75014,
Paris, France.
(3)Département de médecine gériatrique, Centre hospitalier Rives de Seine,
Courbevoie, France.
(4)Laboratoire de Neuropathologie Escourolle, AP-HP – Hôpital Pitié-Salpêtrière,
Paris, France.
(5)Neurological Tissue Bank of the Biobanc-Hospital Clinic-IDIBAPS, Barcelona,
Spain.
(6)Department of Neurology, AP-HP – Hopital Pitié-Salpêtrière, Reference center
for rare or early dementias, Institute of Memory and Alzheimer’s Disease (IM2A),
Paris, France.
(7)Alzheimer disease and other Cognitive Disorders Unit, Department of Neurology,
Hospital Clinic, Barcelona, Spain.
(8)Reference center for neurogenetics, Departement of Genetics, APHP, Hôpital
Pitié-Salpêtrière, 75013, Paris, France.
(9)Institut du Cerveau et la Moelle épinière (ICM), Sorbonne Université, UPMC
Univ Paris 06, Inserm U1127, CNRS UMR 7225, Hôpital Pitié-Salpêtrière, Paris,
France. .
(10)Department of Neurology, AP-HP – Hopital Pitié-Salpêtrière, Reference center
for rare or early dementias, Institute of Memory and Alzheimer’s Disease (IM2A),
Paris, France. .
DOI: 10.1186/s40478-018-0547-8
PMCID: PMC5977499
PMID: 29848387 [Indexed for MEDLINE]