Evidence map›Paper›PMID 38880823›Full record

ArticleNeuroradiology2024

The full spectrum of MRI findings in 18 patients with Canavan disease: new insights into the areas of selective susceptibility.

Elham Rahimian, Felice D'Arco, Sniya Sudhakar, Majid R Tahsini, Neda Azin, Mahdis Morovvati, Parvaneh Karimzadeh, Mohammad Aidin Farahvash

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Article in Neuroradiology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
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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

8 authors.

Elham RahimianHaghighat medical imaging research center, Haghighat medical imaging center, E Janbazan St, PFJW+269, Tehran, Iran.
Felice D'ArcoRadiology Department, Neuroradiology Unit, Great Ormond Street Hospital, London, UK.
Sniya SudhakarRadiology Department, Neuroradiology Unit, Great Ormond Street Hospital, London, UK.
Majid R TahsiniHaghighat medical imaging research center, Haghighat medical imaging center, E Janbazan St, PFJW+269, Tehran, Iran.
Neda AzinRadiology department, school of medicine, Isfahan university of medical sciences, Isfahan, Iran.
Mahdis MorovvatiHaghighat medical imaging research center, Haghighat medical imaging center, E Janbazan St, PFJW+269, Tehran, Iran.
Parvaneh KarimzadehDepartment of Pediatric Neurology, School of Medicine, Mofid Children's Hospital, Tehran, Iran.
Mohammad Aidin FarahvashHaghighat medical imaging research center, Haghighat medical imaging center, E Janbazan St, PFJW+269, Tehran, Iran.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

introductionCanavan disease (CD) is a rare autosomal recessive neurodegenerative disorder caused by a deficiency of aspartoacylase A, an enzyme that degrades N-acetylaspartate (NAA). The disease is characterized by progressive white matter degeneration, leading to intellectual disability, seizures, and death. This retrospective study aims to describe the full spectrum of magnetic resonance imaging (MRI) findings in a large case series of CD patients. MATERIALS AND

methodsMRI findings in 18 patients with confirmed CD were investigated, and the full spectrum of brain abnormalities was compared with the existing literature to provide new insights regarding the brain MRI findings in these patients. All the cases were proven based on genetic study or NAA evaluation in urine or brain.

resultsImaging analysis showed involvement of the deep and subcortical white matter as well as the globus pallidus in all cases, with sparing of the putamen, caudate, and claustrum. The study provides updates on the imaging characteristics of CD and validates some underreported findings such as the involvement of the lateral thalamus with sparing of the pulvinar, involvement of the internal capsules and corpus callosum, and cystic formation during disease progression.

conclusionTo our knowledge, this is one of the largest case series of patients with CD which includes a detailed description of the brain MRI findings. The study confirmed many of the previously reported MRI findings but also identified abnormalities that were previously rarely or not described. We speculate that areas of ongoing myelination are particularly vulnerable to changes in CD.

Indexed as

Canavan DiseaseMagnetic Resonance ImagingAdolescentAdultBrainChildChild, PreschoolFemaleHumansMaleRetrospective StudiesASPArtoacylaseCanavan diseaseMagnetic resonance imagingMagnetic resonance spectroscopyMRSNAAN-AcetylAspartate

Identifiers

PMID38880823

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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.