Evidence map›Paper›PMID 30830284›Full record

ArticleJournal of neurology2019

Dorsal root ganglia volume is increased in patients with the Fabry-related GLA variant p.D313Y.

Tim Godel, Philipp Bäumer, Katharina Stumpfe, Nicole Muschol, Moritz Kronlage, Merle Brunnée, Jennifer Kollmer, Sabine Heiland, Martin Bendszus, Victor-Felix Mautner

Abstract readMulticenter Study
PubMed Publisher
In one paragraph

Article in Journal of neurology, 2019. 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
1.3field-weighted citation impact, top 20% 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, 16 citations in OpenAlex.

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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

10 authors at 4 institutions in 1 country.

Tim GodelDepartment of Neuroradiology, Neurological University Clinic, Heidelberg University Hospital, Im Neuenheimer Feld 400, 69120, Heidelberg, Germany. Tim.godel@med.uni-heidelberg.de.
Philipp BäumerDepartment of Neuroradiology, Neurological University Clinic, Heidelberg University Hospital, Im Neuenheimer Feld 400, 69120, Heidelberg, Germany.
Katharina StumpfeDepartment of Pediatrics, University Medical Center Hamburg-Eppendorf, Martinistraße 52, 20246, Hamburg, Germany.
Nicole MuscholDepartment of Pediatrics, University Medical Center Hamburg-Eppendorf, Martinistraße 52, 20246, Hamburg, Germany.
Moritz KronlageDepartment of Neuroradiology, Neurological University Clinic, Heidelberg University Hospital, Im Neuenheimer Feld 400, 69120, Heidelberg, Germany.
Merle BrunnéeDepartment of Neuroradiology, Neurological University Clinic, Heidelberg University Hospital, Im Neuenheimer Feld 400, 69120, Heidelberg, Germany.
Jennifer KollmerDepartment of Neuroradiology, Neurological University Clinic, Heidelberg University Hospital, Im Neuenheimer Feld 400, 69120, Heidelberg, Germany.
Sabine HeilandDepartment of Neuroradiology, Neurological University Clinic, Heidelberg University Hospital, Im Neuenheimer Feld 400, 69120, Heidelberg, Germany.
Martin BendszusDepartment of Neuroradiology, Neurological University Clinic, Heidelberg University Hospital, Im Neuenheimer Feld 400, 69120, Heidelberg, Germany.
Victor-Felix MautnerDepartment of Neurology, University Medical Center Hamburg-Eppendorf, Martinistraße 52, 20246, Hamburg, Germany.
University Hospital Heidelberg · DEHeidelberg University · DEUniversität Hamburg · DEUniversity Medical Center Hamburg-Eppendorf · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeTo examine dorsal root ganglia and proximal nerve segments in patients carrying the Fabry-related GLA-gene variant p.D313Y in comparison to patients with classical Fabry mutations and healthy controls by morphometric and functional magnetic resonance neurography.

methodsThis prospective multicenter study examines the lumbosacral dorsal root ganglia and sciatic nerve in 11 female p.D313Y patients by a standardized magnetic resonance neurography protocol at 3 T. Volumes of dorsal root ganglia L3 to S2, permeability of dorsal root ganglia L5 and S1, and spinal nerve L5 as well as cross-sectional area of the sciatic nerve were assessed and compared to 10 females carrying a classical Fabry mutation and 16 healthy female controls.

resultsCompared to healthy controls, dorsal root ganglia volumes of p.D313Y females were enlarged by 53% (L3), 48% (L4), 43% (L5), 57% (S1) (p < 0.001), and 55% (S2) (p < 0.05), but less pronounced compared to females carrying a classical Fabry mutation. Compared to healthy controls, p.D313Y patients showed no changes of dorsal root ganglia vascular permeability, while patients with a classical Fabry mutation showed a distinct decrease (p < 0.05). Sciatic nerve cross-sectional area was mildly increased by 6% in p.D313Y as well as in classical Fabry patients (p < 0.05).

conclusionsPatients carrying the GLA-gene variant p.D313Y show distinctly enlarged dorsal root ganglia, while vascular permeability remains within normal limits. Overall, these alterations partially share characteristics commonly seen in patients with a mutation causing classical FD. This suggests that p.D313Y causes a potentially treatable condition resembling an early stage of Fabry disease.

Indexed as

Peripheral Nervous System DiseasesAdultAgedalpha-GalactosidaseCapillary PermeabilityFabry DiseaseFemaleGanglia, SpinalHumansMagnetic Resonance ImagingMiddle AgedMutationProspective StudiesSciatic NerveYoung Adultalpha-GalactosidaseGLA protein, humanDorsal root gangliaFabry diseaseMagnetic resonance neurographyNeuropathic painPeripheral neuropathy

Identifiers

PMID30830284
OpenAlexW2919131266

What OpenQuestion holds

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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.