Evidence map›Paper›PMID 38976822›Full record

ArticleNeurology2024

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

Robert Spaull, Audrey K Soo, Spyros Batzios, Emma Footitt, Rebecca Whiteley, Jonathan W Mink, Lucinda Carr, Paul Gissen, Manju A Kurian

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Neurology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

4 citing papers in PubMed.

  1. Article
  2. Review
  3. Review
  4. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors.

Robert SpaullFrom 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.ORCID 0000-0003-4096-6945
Audrey K SooFrom 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.
Spyros BatziosFrom 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.
Emma FootittFrom 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.
Rebecca WhiteleyFrom 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.
Jonathan W MinkFrom 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.
Lucinda CarrFrom 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.
Paul GissenFrom 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.ORCID 0000-0002-9712-6122
Manju A KurianFrom 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.ORCID 0000-0003-3529-5075

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectivesNeuronal 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).

methodsA 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.

resultsNoncanonical 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 ( 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.

Indexed as

Enzyme Replacement TherapyMovement DisordersNeuronal Ceroid-LipofuscinosesAdolescentChildChild, PreschoolCohort StudiesDipeptidyl-Peptidases and Tripeptidyl-PeptidasesDisease ProgressionFemaleHumansMaleMyoclonusRecombinant ProteinsTreatment Outcomecerliponase alfaDipeptidyl-Peptidases and Tripeptidyl-PeptidasesRecombinant Proteins

Identifiers

PMID38976822
PMCPMC11314953

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.