Evidence map›Paper›PMID 34745889›Full record

ArticleMolecular genetics and metabolism reports2021

Prevalence of cerebral small vessel disease in a Fabry disease cohort.

Daisy Tapia, David Floriolli, Eric Han, Grace Lee, Annlia Paganini-Hill, Stephani Wang, Setarah Zandihaghighi, Virginia Kimonis, Mark Fisher

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular genetics and metabolism reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed
1.0field-weighted citation impact, top 25% 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

13 citing papers in PubMed, 16 citations in OpenAlex.

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  11. Arteriolar neuropathology in cerebral microvascular disease.Neuropathology and applied neurobiology · 2023
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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

9 authors at 1 institution in 1 country.

Daisy TapiaDivision of Genetic and Genomic Medicine, Department of Pediatrics, University of California Irvine Medical Center, CA, USA.
David FloriolliDepartment of Radiological Sciences, Neuroradiology, University of California Irvine Medical Center, CA, USA.
Eric HanDepartment of Neurology, University of California Irvine Medical Center, CA, USA.
Grace LeeDivision of Genetic and Genomic Medicine, Department of Pediatrics, University of California Irvine Medical Center, CA, USA.
Annlia Paganini-HillDepartment of Neurology, University of California Irvine Medical Center, CA, USA.
Stephani WangDivision of Cardiology, Department of Medicine, University of California Irvine Medical Center, CA, USA.
Setarah ZandihaghighiDivision of Genetic and Genomic Medicine, Department of Pediatrics, University of California Irvine Medical Center, CA, USA.
Virginia KimonisDivision of Genetic and Genomic Medicine, Department of Pediatrics, University of California Irvine Medical Center, CA, USA.
Mark FisherDepartment of Neurology, University of California Irvine Medical Center, CA, USA.
University of California, Irvine Medical Center · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectiveTo characterize the prevalence of brain ischemia and cerebral small vessel disease in a cohort of patients with Fabry disease (FD) seen at an academic medical center.

backgroundFD is an inherited X-linked lysosomal storage disorder with central nervous system involvement. Limited data are available in the literature on the cerebrovascular neuroimaging findings in FD, and the reported prevalence of stroke symptoms and cerebral small vessel disease has varied widely. DESIGN/

methodsBrain MRI was performed in 21 patients with FD followed at University of California Irvine Medical Center. Stroke symptoms were assessed and quantification of cerebral microvascular disease was performed using small vessel disease (SVD) score. Lacunes and deep white matter hyperintensities were scored on a four-point scale of 0 (absent) and 1-3 to account for increasing severity; microbleeds were scored 0 (absent) or 1 (present). The total SVD score is the sum of the three components and ranges from 0 to 7.

resultsNearly 43% (9/21) of our FD cohort (aged 32-81 years, mean = 50) had a SVD score of one or higher, all of whom were aged 50 or more years. The most common MRI-defined SVD was white matter hyperintensities (9/9, 100%), followed by microbleeds (6/9, 66%), and lacunes (3/9, 33%). The three patients with previous strokes had some of the highest SVD scores reported in the cohort (scores 3-5).

conclusionsIn this cohort, the prevalence of SVD (43%) was three times higher than prevalence of stroke symptoms. SVD score was highest in the those who had experienced a stroke. These findings emphasize the importance of routine MRI screening of patients with FD in order to identify and treat high risk patients.

Indexed as

Brain magnetic resonance imagingCerebral small vessel diseaseFabry diseaseNeurovascular disease

Identifiers

PMID34745889
PMCPMC8551215
OpenAlexW3208022035

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LicenceCC BY
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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.