Evidence map›Paper›PMID 27516098›Full record

ArticleNeuroradiology2016

Validation of the finding of hypertrophy of the clava in infantile neuroaxonal dystrophy/PLA2G6 by biometric analysis.

A Al-Maawali, G Yoon, A S Feigenbaum, W C Halliday, J T R Clarke, H M Branson, B L Banwell, D Chitayat, Susan I Blaser

Abstract readCase Reports
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In one paragraph

Article in Neuroradiology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed
0.7field-weighted citation impact, top 24% of its field
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

10 citing papers in PubMed, 24 citations in OpenAlex.

  1. Article
  2. Review
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    Article
  4. The Clinical, Radiological and Genetic Spectrum ofTremor and other hyperkinetic movements (New York, N.Y.) · 2024
    Observational
  5. Review
  6. Article
  7. Review
  8. Review
  9. Review
  10. 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 at 4 institutions in 3 countries.

A Al-MaawaliDivision of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
G YoonDivision of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
A S FeigenbaumDivision of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
W C HallidayDivision of Pathology, DPLM, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
J T R ClarkeDivision of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
H M BransonDivision of Paediatric Neuroradiology, The Hospital for Sick Children, University of Toronto, 555 University Avenue, Toronto, M5G 1X8, Ontario, Canada.
B L BanwellDivision of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
D ChitayatDivision of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
Susan I BlaserDivision of Paediatric Neuroradiology, The Hospital for Sick Children, University of Toronto, 555 University Avenue, Toronto, M5G 1X8, Ontario, Canada. susan.blaser@sickkids.ca.
University of Toronto · CAHospital for Sick Children · CAChildren's Hospital of Philadelphia · USSickKids Foundation · CA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

introductionInfantile neuroaxonal dystrophy (INAD), an autosomal recessive neurodegenerative disorder due to PLA2G6 mutation, is classified both as a PLA2G6-associated neurodegeneration (PLAN) disorder and as one of the neurodegeneration with brain iron accumulation (NBIA) disorders. Age of onset and clinical presentation in INAD is variable. Typically described imaging features of cerebellar atrophy, cerebellar cortex bright FLAIR signal, and globus pallidus iron deposition are variable or late findings. We characterize clinical and neuroimaging phenotypes in nine children with confirmed PLA2G6 mutations and show a useful imaging feature, clava hypertrophy, which may aid in earlier identification of patients. Measurements of the clava confirm actual enlargement, rather than apparent enlargement due to volume loss of the other brain stem structures.

methodsA retrospective clinical and MRI review was performed. Brain stem measurements were performed and compared with age-matched controls.

resultsWe identified nine patients, all with novel PLA2G6 gene mutations. MRI, available in eight, showed clava hypertrophy, regardless of age or the absence of other more typically described neuroimaging findings. Brain autopsy in our cohort confirmed prominent spheroid bodies in the clava nuclei.

conclusionClava hypertrophy is an important early imaging feature which may aid in indentification of children who would benefit from specific testing for PLA2G6 mutations.

Indexed as

BiometryChild, PreschoolDiagnosis, DifferentialFemaleGenetic Predisposition to DiseaseGroup VI Phospholipases A2HumansHypertrophyInfantMagnetic Resonance ImagingMaleNeuroaxonal DystrophiesReproducibility of ResultsSensitivity and SpecificityGroup VI Phospholipases A2PLA2G6 protein, humanAtypical INAD (NBIA2B)ClavaINAD (NBIA2A)PLAN/PLA2G6Seitelberger’s disease

Identifiers

PMID27516098
OpenAlexW2512371701

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

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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.