Evolution of Movement Disorders in Patients With CLN2-Batten Disease Treated With Enzyme Replacement Therapy.

Autor:	Spaull R; From the Molecular Neurosciences (R.S., A.K.S., M.A.K.), Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health, London, United Kingdom; Department of Neurology (R.S., A.K.S., L.C., M.A.K.), Great Ormond Street Hospital, London, United Kingdom; Department of Paediatric Metabolic Diseases (S.B., E.F., R.W., P.G.), Great Ormond Street Hospital for Children, London, United Kingdom; Department of Neurology (J.W.M.), University of Rochester, NY; and Genetics and Genomic Medicine (P.G.), UCL Great Ormond Street Institute of Child Health, London, United Kingdom., Soo AK; From the Molecular Neurosciences (R.S., A.K.S., M.A.K.), Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health, London, United Kingdom; Department of Neurology (R.S., A.K.S., L.C., M.A.K.), Great Ormond Street Hospital, London, United Kingdom; Department of Paediatric Metabolic Diseases (S.B., E.F., R.W., P.G.), Great Ormond Street Hospital for Children, London, United Kingdom; Department of Neurology (J.W.M.), University of Rochester, NY; and Genetics and Genomic Medicine (P.G.), UCL Great Ormond Street Institute of Child Health, London, United Kingdom., Batzios S; From the Molecular Neurosciences (R.S., A.K.S., M.A.K.), Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health, London, United Kingdom; Department of Neurology (R.S., A.K.S., L.C., M.A.K.), Great Ormond Street Hospital, London, United Kingdom; Department of Paediatric Metabolic Diseases (S.B., E.F., R.W., P.G.), Great Ormond Street Hospital for Children, London, United Kingdom; Department of Neurology (J.W.M.), University of Rochester, NY; and Genetics and Genomic Medicine (P.G.), UCL Great Ormond Street Institute of Child Health, London, United Kingdom., Footitt E; From the Molecular Neurosciences (R.S., A.K.S., M.A.K.), Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health, London, United Kingdom; Department of Neurology (R.S., A.K.S., L.C., M.A.K.), Great Ormond Street Hospital, London, United Kingdom; Department of Paediatric Metabolic Diseases (S.B., E.F., R.W., P.G.), Great Ormond Street Hospital for Children, London, United Kingdom; Department of Neurology (J.W.M.), University of Rochester, NY; and Genetics and Genomic Medicine (P.G.), UCL Great Ormond Street Institute of Child Health, London, United Kingdom., Whiteley R; From the Molecular Neurosciences (R.S., A.K.S., M.A.K.), Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health, London, United Kingdom; Department of Neurology (R.S., A.K.S., L.C., M.A.K.), Great Ormond Street Hospital, London, United Kingdom; Department of Paediatric Metabolic Diseases (S.B., E.F., R.W., P.G.), Great Ormond Street Hospital for Children, London, United Kingdom; Department of Neurology (J.W.M.), University of Rochester, NY; and Genetics and Genomic Medicine (P.G.), UCL Great Ormond Street Institute of Child Health, London, United Kingdom., Mink JW; From the Molecular Neurosciences (R.S., A.K.S., M.A.K.), Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health, London, United Kingdom; Department of Neurology (R.S., A.K.S., L.C., M.A.K.), Great Ormond Street Hospital, London, United Kingdom; Department of Paediatric Metabolic Diseases (S.B., E.F., R.W., P.G.), Great Ormond Street Hospital for Children, London, United Kingdom; Department of Neurology (J.W.M.), University of Rochester, NY; and Genetics and Genomic Medicine (P.G.), UCL Great Ormond Street Institute of Child Health, London, United Kingdom., Carr L; From the Molecular Neurosciences (R.S., A.K.S., M.A.K.), Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health, London, United Kingdom; Department of Neurology (R.S., A.K.S., L.C., M.A.K.), Great Ormond Street Hospital, London, United Kingdom; Department of Paediatric Metabolic Diseases (S.B., E.F., R.W., P.G.), Great Ormond Street Hospital for Children, London, United Kingdom; Department of Neurology (J.W.M.), University of Rochester, NY; and Genetics and Genomic Medicine (P.G.), UCL Great Ormond Street Institute of Child Health, London, United Kingdom., Gissen P; From the Molecular Neurosciences (R.S., A.K.S., M.A.K.), Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health, London, United Kingdom; Department of Neurology (R.S., A.K.S., L.C., M.A.K.), Great Ormond Street Hospital, London, United Kingdom; Department of Paediatric Metabolic Diseases (S.B., E.F., R.W., P.G.), Great Ormond Street Hospital for Children, London, United Kingdom; Department of Neurology (J.W.M.), University of Rochester, NY; and Genetics and Genomic Medicine (P.G.), UCL Great Ormond Street Institute of Child Health, London, United Kingdom., Kurian MA; From the Molecular Neurosciences (R.S., A.K.S., M.A.K.), Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health, London, United Kingdom; Department of Neurology (R.S., A.K.S., L.C., M.A.K.), Great Ormond Street Hospital, London, United Kingdom; Department of Paediatric Metabolic Diseases (S.B., E.F., R.W., P.G.), Great Ormond Street Hospital for Children, London, United Kingdom; Department of Neurology (J.W.M.), University of Rochester, NY; and Genetics and Genomic Medicine (P.G.), UCL Great Ormond Street Institute of Child Health, London, United Kingdom.
Jazyk:	angličtina
Zdroj:	Neurology [Neurology] 2024 Aug 13; Vol. 103 (3), pp. e209615. Date of Electronic Publication: 2024 Jul 08.
DOI:	10.1212/WNL.0000000000209615
Abstrakt:	Objectives: Neuronal ceroid lipofuscinosis type 2 (CLN2-disease) is an inherited childhood-onset neurodegenerative condition, with classical early features of speech delay, epilepsy, myoclonus, ataxia, and motor regression. This study aimed to better characterize the spectrum of movement disorders in CLN2-disease in a cohort of children receiving enzyme replacement therapy (ERT). Methods: A cohort of 18 children attending a single center for treatment with cerliponase alfa ERT was systematically assessed using a standardized structured history and a double-scored, video-recorded examination using the Unified Batten Disease Rating Scale (UBDRS) and Abnormal Involuntary Movement Scale. Results: Noncanonical movement disorders are common: while ataxia (89%) and myoclonus (83%) were near-universal, spasticity and dystonia were experienced by over half (61% each), with children having a median of 4 distinct movement disorder phenotypes. This progression was stereotyped with initial ataxia/myoclonus, then hyperkinesia/spasticity, and later hypokinesia. ERT slows progression of movement disorders, as measured by the UBDRS physical subscale, with 1.45 points-per-month progression before diagnosis and 0.44 points-per-month while on treatment ( p = 0.019). Discussion: Movement disorders are a core feature of CLN2-disease and follow a typical pattern of progression which is slowed by ERT. Identifying and treating movement disorders should become standard, especially given increased patient survival.
Databáze:	MEDLINE
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