Deciphering the natural history of SCA7 in children
Maissa G Bah
(1)
,
Diana Rodriguez
(1)
,
Cécile Cazeneuve
(1, 1)
,
Fanny Mochel
(2, 1)
,
David Devos
(3)
,
Agnese Suppiej
(4)
,
Agathe Roubertie
(5, 6)
,
Isabelle Meunier
(5)
,
Cyril Gitiaux
(7)
,
Aurore Curie
(8, 9, 10)
,
Frédéric Klapczynski
(11)
,
Nouha Allani-Essid
(12)
,
Maryline Carneiro
(9)
,
Rick van Minkelen
(13)
,
Anneke Kievit
(13)
,
Joel Fluss
(14)
,
Bruno Leheup
(15)
,
Llham Ratbi
(16)
,
Delphine Héron
(1)
,
Domitille Gras
(17)
,
Jeremy Do Cao
(17)
,
Samia Pichard
(17)
,
Isabelle Strubi-Villaume
(18)
,
Isabelle Audo
(19, 20)
,
Gaëtan Lesca
(21)
,
Perrine Charles
(1)
,
Fanny Dubois
(22)
,
Pauline Comet-Didierjean
(6)
,
Yline Capri
(23)
,
Catherine Barondiot
,
Marion Barathon
(24)
,
Claire Ewenczyk
(1)
,
Alexandra Durr
(2)
,
Cyril Mignot
(1)
1
CHU Pitié-Salpêtrière [AP-HP]
2 ICM - Institut du Cerveau = Paris Brain Institute
3 LilNCog - Lille Neurosciences & Cognition - U 1172
4 UniFE - Università degli Studi di Ferrara = University of Ferrara
5 INM - Institut des Neurosciences de Montpellier
6 CHRU Montpellier - Centre Hospitalier Régional Universitaire [Montpellier]
7 Hôpital Necker - Enfants Malades [AP-HP]
8 CRNL - Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center
9 HFME - Hôpital Femme Mère Enfant [CHU - HCL]
10 TRAJECTOIRES - Evaluating, understanding, supporting motor, perceptive and social Trajectories
11 Centre Hospitalier de Meaux
12 Hôpital Raymond Poincaré (Garches) [GHU AP-HP Université Paris-Saclay]
13 Erasmus MC - Erasmus University Medical Center [Rotterdam]
14 HUG - Geneva University Hospital
15 Service de Médecine Infantile III et Génétique Clinique [CHRU Nancy]
16 UM5 - Université Mohammed V de Rabat [Agdal]
17 AP-HP Hôpital universitaire Robert-Debré [Paris]
18 CHRU Lille - Centre Hospitalier Régional Universitaire [CHU Lille]
19 Institut de la Vision
20 CIC1423 - CIC QUINZE-VINGTS - Centre d'investigation clinique Quinze-Vingts [CHNO]
21 Service de génétique [Hôpial Louis Pradel - HCL]
22 CHUGA - Centre Hospitalier Universitaire [CHU Grenoble]
23 Département de génétique [Robert Debré]
24 Centre Hospitalier Simone Veil de Beauvais [Beauvais]
2 ICM - Institut du Cerveau = Paris Brain Institute
3 LilNCog - Lille Neurosciences & Cognition - U 1172
4 UniFE - Università degli Studi di Ferrara = University of Ferrara
5 INM - Institut des Neurosciences de Montpellier
6 CHRU Montpellier - Centre Hospitalier Régional Universitaire [Montpellier]
7 Hôpital Necker - Enfants Malades [AP-HP]
8 CRNL - Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center
9 HFME - Hôpital Femme Mère Enfant [CHU - HCL]
10 TRAJECTOIRES - Evaluating, understanding, supporting motor, perceptive and social Trajectories
11 Centre Hospitalier de Meaux
12 Hôpital Raymond Poincaré (Garches) [GHU AP-HP Université Paris-Saclay]
13 Erasmus MC - Erasmus University Medical Center [Rotterdam]
14 HUG - Geneva University Hospital
15 Service de Médecine Infantile III et Génétique Clinique [CHRU Nancy]
16 UM5 - Université Mohammed V de Rabat [Agdal]
17 AP-HP Hôpital universitaire Robert-Debré [Paris]
18 CHRU Lille - Centre Hospitalier Régional Universitaire [CHU Lille]
19 Institut de la Vision
20 CIC1423 - CIC QUINZE-VINGTS - Centre d'investigation clinique Quinze-Vingts [CHNO]
21 Service de génétique [Hôpial Louis Pradel - HCL]
22 CHUGA - Centre Hospitalier Universitaire [CHU Grenoble]
23 Département de génétique [Robert Debré]
24 Centre Hospitalier Simone Veil de Beauvais [Beauvais]
Maissa G Bah
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- PersonId : 1215505
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Cécile Cazeneuve
- Fonction : Auteur
- PersonId : 763171
- ORCID : 0000-0002-5195-9348
- IdRef : 273757075
David Devos
- Fonction : Auteur
- PersonId : 13309
- IdHAL : david-devos
- ORCID : 0000-0002-2417-799X
- IdRef : 091996309
Cyril Gitiaux
- Fonction : Auteur
- PersonId : 768767
- ORCID : 0000-0002-2190-6843
- IdRef : 110494709
Isabelle Audo
- Fonction : Auteur
- PersonId : 880886
- ORCID : 0000-0003-0698-5309
- IdRef : 076011909
Gaëtan Lesca
- Fonction : Auteur
- PersonId : 769268
- ORCID : 0000-0001-7691-9492
- IdRef : 124685811
Perrine Charles
- Fonction : Auteur
- PersonId : 1364656
- ORCID : 0000-0002-3108-2171
- IdRef : 09424524X
Catherine Barondiot
- Fonction : Auteur
Alexandra Durr
- Fonction : Auteur
- PersonId : 758970
- ORCID : 0000-0002-8921-7104
- IdRef : 148675018
Résumé
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.