Deciphering the natural history of SCA7 in children

Autor: Bruno Leheup, Anneke J.A. Kievit, Y. Capri, Cécile Cazeneuve, P. Comet‐Didierjean, Claire Ewenczyk, David Devos, Delphine Héron, Diana Rodriguez, M. Barathon, M. Carneiro, C. Barondiot, I. Strubi‐Villaume, G. Lesca, Isabelle Audo, R. van Minkelen, Agnese Suppiej, F. Dubois, A. Curie, N. Allani‐Essid, M. G. Bah, L. Ratbi, Cyril Mignot, F. Klapczynski, Joel Victor Fluss, Alexandra Durr, C. Gitiaux, Fanny Mochel, Isabelle Meunier, J. Do Cao, Perrine Charles, S. Pichard, D. Gras, Agathe Roubertie
Přispěvatelé: CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Lille Neurosciences & Cognition - U 1172 (LilNCog), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Università degli Studi di Ferrara = University of Ferrara (UniFE), Institut des Neurosciences de Montpellier (INM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Hospices Civils de Lyon (HCL), Centre Hospitalier de Meaux, Hôpital Raymond Poincaré [Garches], Erasmus University Medical Center [Rotterdam] (Erasmus MC), Geneva University Hospital (HUG), Service de Médecine Infantile III et Génétique Clinique [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Université Mohammed V de Rabat [Agdal] (UM5), AP-HP Hôpital universitaire Robert-Debré [Paris], Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Institut de la Vision, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Centre d'investigation clinique Quinze-Vingts [CHNO] (CIC1423 - CIC QUINZE-VINGTS), Institut Hospitalo-Universitaire FOReSIGHT (IHU FOReSIGHT), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts (CHNO)-Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts (CHNO)-Sorbonne Université (SU), Service de génétique [Hôpial Louis Pradel - HCL], Hôpital Louis Pradel [CHU - HCL], Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Centre Hospitalier Universitaire [Grenoble] (CHU), Département de génétique [Robert Debré], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP Hôpital universitaire Robert-Debré [Paris], Centre Hospitalier Simone Veil de Beauvais [Beauvais], Clinical Genetics
Jazyk: angličtina
Rok vydání: 2020
Předmět:
Pediatrics
medicine.medical_specialty
paediatric
Retinal dystrophy
MESH: Spinocerebellar Ataxias
Genetic counseling
Socio-culturale
Severe disease
MESH: Phenotype
Spinocerebellar Ataxias/diagnosis/genetics
03 medical and health sciences
0302 clinical medicine
Autosomal dominant cerebellar ataxia
MESH: Child
medicine
Spinocerebellar Ataxias
Humans
030212 general & internal medicine
Genetic Testing
Child
Genetic testing
childhood onset
paediatric
polyglutamine expansion disease
spinocerebellar ataxia type 7
Ataxin-7
ddc:618
MESH: Humans
medicine.diagnostic_test
MESH: Genetic Testing
business.industry
medicine.disease
Natural history
Phenotype
Neurology
MESH: Ataxin-7
spinocerebellar ataxia type 7
Gait Ataxia
Cerebellar atrophy
[SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]
Neurology (clinical)
childhood onset
polyglutamine expansion disease
business
030217 neurology & neurosurgery
Zdroj: EUROPEAN JOURNAL OF NEUROLOGY
EUROPEAN JOURNAL OF NEUROLOGY, 2020, 27 (11), pp.2267-2276. ⟨10.1111/ene.14405⟩
European Journal of Neurology, 27(11), 2267-2276. Wiley-Blackwell Publishing Ltd
European Journal of Neurology, Vol. 27, No 11 (2020) pp. 2267-2276
ISSN: 1351-5101
DOI: 10.1111/ene.14405⟩
Popis: International audience; BACKGROUND AND PURPOSE: Childhood-onset autosomal dominant cerebellar ataxia type 7 (SCA7) is a severe disease which leads to premature loss of ambulation and death. Early diagnosis of SCA7 is of major importance for genetic counselling and still relies on specific genetic testing, driven by clinical expertise. However, the precise phenotype and natural history of paediatric SCA7 has not yet been fully described. Our aims were to describe the natural history of SCA7 in a large multicentric series of children of all ages, and to find correlates to variables defining this natural history. METHODS: We collected and analysed clinical data from 28 children with proven SCA7. All had clinical manifestations of SCA7 and either a definite number of CAG repeats in ATXN7 or a long expansion > 100 CAG. RESULTS: We identified four clinical presentation patterns related to age at onset. Children of all age groups had cerebellar atrophy and retinal dystrophy. Our data, combined with those in the literature, suggest that definite ranges of CAG repeats determine paediatric SCA7 subtypes. The number of CAG repeats inversely correlated to all variables of the natural history. Age at gait ataxia onset correlated accurately to age at loss of walking ability and to age at death. CONCLUSION: SCA7 in children has four presentation patterns that are roughly correlated to the number of CAG repeats. Our depiction of the natural history of SCA7 in children may help in monitoring the effect of future therapeutic trials.
Databáze: OpenAIRE
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