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Evolution of Movement Disorders in Patients With CLN2-Batten Disease Treated With Enzyme Replacement Therapy.
Spaull, Robert; Soo, Audrey K; Batzios, Spyros; Footitt, Emma; Whiteley, Rebecca; Mink, Jonathan W; Carr, Lucinda; Gissen, Paul; Kurian, Manju A.
Afiliación
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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
Neurology ; 103(3): e209615, 2024 Aug 13.
Article en En | MEDLINE | ID: mdl-38976822
ABSTRACT

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.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Terapia de Reemplazo Enzimático / Trastornos del Movimiento / Lipofuscinosis Ceroideas Neuronales Límite: Adolescent / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Neurology Año: 2024 Tipo del documento: Article Pais de publicación: Estados Unidos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Terapia de Reemplazo Enzimático / Trastornos del Movimiento / Lipofuscinosis Ceroideas Neuronales Límite: Adolescent / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Neurology Año: 2024 Tipo del documento: Article Pais de publicación: Estados Unidos