Systematic Screening of Ubiquitin/p62 Aggregates in Cerebellar Cortex Expands the Neuropathological Phenotype of the C9orf72 Expansion Mutation

Author:

Ramos-Campoy Oscar12,Ávila-Polo Rainiero13,Grau-Rivera Oriol12,Antonell Anna2,Clarimón Jordi45,Rojas-García Ricardo6,Charif Sara1,Santiago-Valera Veronica1,Hernandez Isabel7,Aguilar Miquel8,Almenar Consuelo910,Lopez-Villegas Dolores10,Bajo Lorena11,Pastor Pau8,Van der Zee Julie12,Lladó Albert2,Sanchez-Valle Raquel12,Gelpi Ellen113

Affiliation:

1. Neurological Tissue Bank of the Biobanc-Hospital Clinic-IDIBAPS, Barcelona, Spain

2. Alzheimer disease and Other Cognitive Disorders Unit, Department of Neurology, Hospital Clinic, Barcelona, Spain

3. Department of Anatomical Pathology, FISEVI-Hospital Universitario Virgen del Rocío, Sevilla, Spain

4. Neurology Department and Sant Pau Biomedical Research Institute, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain

5. Center for Networked Biomedical Research Into Neurodegenerative Diseases (CIBERNED)

6. Neuromuscular Diseases Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain and Center for Networked Biomedical Research Into Rare Diseases (CIBERER), Spain

7. Fundación ACE, Barcelona, Spain

8. Movement Disorders and Memory Unit, Department of Neurology, University Hospital Mutua de Terrassa, and Fundació per la Recerca Biomèdica i Social Mútua Terrassa, Terrassa, Barcelona, Spain

9. Department of Neurology, Sant Boi de Llobregat, Hospital Germanes Hospitalàries Benito Menni, Barcelona, Spain

10. Department of Neurology, Parc de Salut Marx, Barcelona, Spain

11. Department of Geriatry, Hospital Universitari de la Santa Creu de Vic, Barcelona, Spain

12. Institute Born-Bunge, University of Antwerp, Antwerp, Belgium

13. Institute of Neurology, Medical University of Vienna, Austria

Funder

Fundación Tatiana Pérez de Guzmán el Bueno

Fundació Marató de TV3

Publisher

Oxford University Press (OUP)

Subject

Cellular and Molecular Neuroscience,Neurology (clinical),Neurology,General Medicine,Pathology and Forensic Medicine

Reference33 articles.

1. What is frontotemporal dementia?;Kurz;Maturitas,2014

2. Frontotemporal lobar degeneration: Diversity of FTLD lesions;Seilhean;Rev Neurol (Paris),2013

3. The frontotemporal dementia-motor neuron disease continuum;Burrell;Lancet,2016

4. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD;Renton;Neuron,2011

5. Sequestration of multiple RNA recognition motif-containing proteins by C9orf72 repeat expansions;Cooper-Knock;Brain,2014

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