(Frontotemporal Dementia, Primary Progressive Aphasia,
Progressive Supranuclear Palsy, Corticobasal Degeneration)
The “National Plan for Rare Diseases, 2005-2008” led to the creation of reference centres (RC), labeled by the French Ministry of Health and Social Care, devoted to the patients affected by rare diseases. The reference centres are organized around highly specialized medical teams with multidisciplinary skills. The creation of the reference centres aims to facilitate the diagnosis of rare diseases, to improve the care and support for the patients, to make their access to specialized consultations easier, to provide medical information, and to coordinate research on these diseases.
The “Reference Centre for Rare Dementias” was created in July 2007 and relabeled in 2017 under the name “Reference Centre for Rare or Early-Onset Dementias” . It is located at the Memory and Alzheimer’s disease Institute at the Pitié-Salpêtrière Hospital (Paris). It is led by the Pr Bruno Dubois and coordinated by the Dr Isabelle Le Ber.
This reference centre is dedicated to patients affected by four rare pathologies : Frontotemporal Dementia (FTD), Primary Progressive Aphasia (PPA), Progressive Supranuclear Palsy (PSP), and Corticobasal Degeneration (CBD).
The major aims of the “Reference Centre for Rare or Early-Onset Dementias” are to improve the diagnosis of these diseases and to elaborate a therapeutic strategy, psychological, and social support, adapted to each patient according to his disease. The centre also aimed at leading and coordinating a network of health and medico-social correspondents ; to be a privileged referent for patients associations ; to participate in training and teaching healthcare professionals, the patients, and their families ; and to coordinate research on these diseases.
The multidisciplinary consultations (MDC) are composed of a team of medical specialists (neurologists, social worker, clinical psychologist, neuropsychologist, neurogeneticist and speech therapist) that allow to evaluate different aspects of the disease and bring psychological support to the caregiver.
The support for the patients and families is also focused on psycho-education groups. The groups bring together a dozen participants (groups of patients, groups of spouses, groups of children) all impacted by the same pathology, over the course of a dozen meetings each year that are held at the Pitié-Salpêtrière Hospital. A specific theme is addressed at each session (social care, behavioral problems, scientific aspects, etc.), where experts are invited to speak and answer questions of the patients or families.
The website (www.cref-demrares.fr, in French) of the reference centre is dedicated to the patients and families affected by FTD, PPA, PSP, and CBD. The website includes information about the system of medical and psychosocial support provided by the Reference Centre and informations on the pathologies treated at the Reference Centre, as well as links to social assistance and patient associations on the website.
The RC also strengthens ties with patient associations ; France-Alzheimer, ARSLA, PSP France, and France-DFT.
The reference centre works in collaboration with 17 regional centres that were determined in 2008 and updated with 4 new centres in 2017 : Amiens, Angers, Bordeaux, Dijon, Grenoble, Lille, Limoges, Lyon, Montpellier, Marseille, Nantes, Pointe à Pitre, Poitiers, Rennes, Rouen, Strasbourg, Toulouse. These qualified centres allow for patients to benefit from specialized consultations close to their homes. The 17 regional centres and the Reference Centre are committed to sharing identical diagnostic, social support, and therapeutic procedures and to develop joint research projects on FTD, PPA, PSP, and CBD. This ensures the same quality of care for the patients affected by rare diseases throughout France. The information and addresses for the regional centres are available here. The structuration of a national network, formed by the Reference Centre and the regional centres allowed development of research projects on a national scale.
The reference centre is part of the European Reference Network for Rare Neurological Diseases (ERN-RND) which contains expert centres that have been approved by their respective national healthcare authorities and have been thoroughly assessed during the ERN application process. All the contact details of the ERN-RND Expert Centres are available here.
Reference Centre Team
Supervisor : Dr. Isabelle Le Ber
Neurologists : Pr. Bruno Dubois (FTD, PPA, PSP, CBD), Dr. Isabelle Le Ber (FTD), Dr. Anne-Marie Bonnet (PSP, CBD), Dr. Marc Teichmann (PPA), Dr. Carole Azuar (FTD), Pr. Richard Levy (FTD)
Clinical Psychologist : Sarah Boucault, Anna Metcalfe
Clinical Research Project Manager : Daisy Rinaldi
Social Worker : Isabelle Grillot, Florence Quillien
Neuropsychologists : Aurélie Guignebert, Céline Chamayou, Dalila Samri, Tiffany Landuré, Frédérique Bozon-Auclair
Speech Therapists : Marie Noguès, Sophie Ferrieux, Ségolène Favier, Christine Pointon
Genetic Diagnosis : Isabelle Le Ber (genetic counseling), Fabienne Clot (molecular analysis)
Health Education : Sarah Boucault
Nurse : Catherine Poisson
Reference Centre Address :
Centre de référence des Démences Rares ou Précoces (Reference Centre for Rare or Early-Onset Dementias)
IM2A - Pôle des maladies du système nerveux
47 boulevard de l’hôpital
75651 PARIS cedex 13
Mail : firstname.lastname@example.org
Regional Centre Addresses :
They are accessible here.