Relapsing encephalopathy with cerebellar ataxia are caused by variants involving p.Arg756 in ATP1A3 |
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| Institution: | 1. Department of Pediatrics, American Memorial Hospital, CHU Reims, Reims, France;2. Department of Pediatric Neurology, Hopital Roger Salengro, CHU Lille, Lille, France;3. Department of Pediatrics, Hôpitaux Universitaires de Strasbourg, Strasbourg, France;4. Department of Pediatric Neurology, AP-HP, Hôpital Bicêtre, Paris, France;5. Department of Neurology, 1st Medical Faculty, Charles University, Prague, Czech Republic;6. Department of Genetics, Groupe Hospitalier Pitié Salpêtrière, AP-HP, Paris, France;7. Department of Medical Genetics, Hospices Civils de Lyon, Lyon, France;8. Department of Pediatric Neurology, AP-HP, Hôpital Armand Trousseau, Paris, France;1. Department of Pediatric Neurology, Arabkir Medical Center, 30 Mamikonyants str., 0014 Yerevan, Armenia;2. Department of Pediatrics, Yerevan State Medical University, 2 Koryun str., 0025 Yerevan, Armenia;3. Department of Pediatric Neurology, University Children''s Hospital, 75, Steinwiesstrasse, 8032 Zurich, Switzerland;1. Department of Neurology, University of California Davis, Sacramento, CA, USA;2. Center for Mind and Brain, University of California Davis, Davis, CA, USA;3. Department of Neurological Sciences, Rush University, Chicago, IL, USA;4. Department of Neurology, University of Colorado, Denver, CO, USA;5. Department of Biochemistry and Molecular Medicine, University of California Davis, Davis, CA, USA;6. Medical Investigations of Neurodevelopmental Disorders (MIND) Institute, University of California Davis, Sacramento, CA, USA;7. Department of Pediatrics, University of California Davis, School of Medicine, Sacramento, CA, USA;1. Faculty of Psychology and Educational Science, University of Geneva, 28 Bd Pont d''Arve, CH-1211, Genève 4, Switzerland;2. Pediatric Radiology, Children''s Hospital of Geneva, Switzerland;3. Pediatric Ophthalmology, La Tour Hospital, Geneva, Switzerland;4. Pediatric Neurology Unit, Pediatric Subspecialties Service, Children''s Hospital of Geneva, Switzerland;1. Complex Motor Disorder Service, Evelina London Children''s Hospital, Guy''s and St Thomas'' NHS Foundation Trust, Floor 2 Beckett House, Lambeth Palace Road, London, SE1 7EU, United Kingdom;2. F. Hoffmann-La Roche Ltd, Basel, Switzerland;3. King''s College London, Institute of Psychiatry, Psychology and Neurosciences, Psychology Department, London, SE5 8AF, United Kingdom |
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| Abstract: | Mutations in ATP1A3 lead to different phenotypes having in common acute neurological decompensation episodes triggered by a specific circumstance and followed by sequelae. Alongside Alternating Hemiplegia of Childhood (AHC), Rapid-onset Dystonia Parkinsonism (RDP) and Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy, Sensorineural hearing loss syndrome (CAPOS), a new Relapsing Encephalopathy with Cerebellar Ataxia (RECA) phenotype was published in 2015. We describe herein eight new pediatric cases. Most of them had no specific history when the first neurological decompensation episode occurred, before the age of 5 years, triggered by fever with severe paralytic hypotonia followed by ataxia with or without abnormal movements. Neurological sequelae with ataxia as the predominant symptom were present after the first episode in three cases and after at least one subsequent relapse in five cases. Five of the eight cases had a familial involvement with one of the two parents affected. The phenotype–genotype correlation is unequivocal with the causal substitution always located at position 756. The pathophysiology of the dysfunctions of the mutated ATPase pump, triggered by fever is unknown. Severe recurrent neurological decompensation episodes triggered by fever, without any metabolic cause, should lead to the sequencing of ATP1A3. |
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| Keywords: | ATP1A3 Ataxia Movement disorder Child |
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