Interrupted CAG expansions in ATXN2 gene expand the genetic spectrum of frontotemporal dementias

Clémence Fournier; Vincent Anquetil; Agnès Camuzat; Sandrine Stirati-Buron; Véronique Sazdovitch; Laura Molina-Porcel; Sabrina Turbant; Daisy Rinaldi; Raquel Sánchez-Valle; Mathieu Barbier; Morwena Latouche; Neuro-CEB Neuropathology Network; Giovanni Stevanin; Danielle Seilhean; Alexis Brice; Charles Duyckaerts; Isabelle Le Ber

doi:10.1186/s40478-018-0547-8

Interrupted CAG expansions in ATXN2 gene expand the genetic spectrum of frontotemporal dementias

Acta Neuropathol Commun. 2018 May 30;6(1):41. doi: 10.1186/s40478-018-0547-8.

Authors

Clémence Fournier¹, Vincent Anquetil¹, Agnès Camuzat^{1

2}, Sandrine Stirati-Buron³, Véronique Sazdovitch⁴, Laura Molina-Porcel⁵, Sabrina Turbant^{1

4}, Daisy Rinaldi^{1

6}, Raquel Sánchez-Valle^{5

7}, Mathieu Barbier¹, Morwena Latouche^{1

2}; Neuro-CEB Neuropathology Network; Giovanni Stevanin^{1

2

8}, Danielle Seilhean^{1

4}, Alexis Brice^{1

8}, Charles Duyckaerts^{1

4}, Isabelle Le Ber^{9

10}

Collaborators

Neuro-CEB Neuropathology Network:
Franck Letournel, Anne Vital, Françoise Chapon, Catherine Godfraind, Claude-Alain Maurage, Vincent Deramecourt, David Meyronnet, Nathalie Streichenberger, André Maues de Paula, Valérie Rigau, Fanny Vandenbos-Burel, Danielle Seilhean, Serge Milin, Dan Christian Chiforeanu, Annie Laquerrière, Béatrice Lannes

Affiliations

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. Isabelle.leber@upmc.fr.
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. Isabelle.leber@upmc.fr.

No abstract available

Keywords: Amyotrophic lateral sclerosis; Ataxin 2; C9orf72; Corticobasal degeneration; Corticobasal syndrome; Frontotemporal dementia; Frontotemporal lobar degeneration; GRN; SCA2; TDP-43.

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Aged
Aged, 80 and over
Amyotrophic Lateral Sclerosis / diagnostic imaging
Amyotrophic Lateral Sclerosis / genetics*
Ataxin-2 / genetics*
Brain / diagnostic imaging
Brain / metabolism
Cohort Studies
DNA-Binding Proteins / metabolism
Female
Frontotemporal Dementia / diagnostic imaging
Frontotemporal Dementia / genetics*
Humans
Magnetic Resonance Imaging
Male
Middle Aged
Tomography, Emission-Computed, Single-Photon
Trinucleotide Repeat Expansion / genetics*

Substances

ATXN2 protein, human
Ataxin-2
DNA-Binding Proteins
TARDBP protein, human

Publication types

MeSH terms

Substances

Grants and funding