Evidence map›Paper›PMID 27785412›Full record

ArticleBalkan journal of medical genetics : BJMG2016

Neuroradiological, neurophysiological and molecular findings in infantile Krabbe disease: two case reports.

E Vargiami, E Papathanasiou, S Batzios, M Kyriazi, E Dimitriou, A Anastasiou, H Michelakakis, A-K Giese, D I Zafeiriou

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In one paragraph

Article in Balkan journal of medical genetics : BJMG, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.6field-weighted citation impact, top 28% 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

3 citing papers in PubMed, 7 citations in OpenAlex.

  1. Article
  2. A novel homozygous GALC variant has been associated with Krabbe disease in a consanguineous family.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2018
    Article
  3. 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 2 countries.

E Vargiami1 Pediatric Clinic, Aristotle University of Thessaloniki, Thessaloniki, Greece.
E Papathanasiou1 Pediatric Clinic, Aristotle University of Thessaloniki, Thessaloniki, Greece.
S Batzios1 Pediatric Clinic, Aristotle University of Thessaloniki, Thessaloniki, Greece.
M Kyriazi1 Pediatric Clinic, Aristotle University of Thessaloniki, Thessaloniki, Greece.
E DimitriouDepartment of Enzymology and Cellular Function, Institute of Child Health, Athens, Greece.
A AnastasiouDepartment of Radiology, Hippokratio General Hospital, Thessaloniki, Greece.
H MichelakakisDepartment of Enzymology and Cellular Function, Institute of Child Health, Athens, Greece.
A-K GieseNeurogenetics and Metabolic Disorders Unit, University of Rostock, Rostock, Germany.
D I Zafeiriou1 Pediatric Clinic, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Aristotle University of Thessaloniki · GRInstitute of Child Health · GRUniversity of Rostock · DEIppokrateio General Hospital of Thessaloniki · GR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Krabbe disease is an autosomal recessive neurodegenerative disorder due to a defect of the lysosomal enzyme β-galactocerebrosidase (β-GALC). Depending on the age of onset, the disease is classified into infantile and later-onset forms. We report neuroradiological, neurophysiological and molecular findings in two Greek patients with the infantile form of Krabbe disease. The index patients presented at the age of 3.5 and 6 months, respectively, due to developmental delay. Magnetic resonance imaging (MRI) of the first patient's brain demonstrated signs of leukodystrophy, while nerve conduction velocities (NCVs) were significantly decreased. The second patient's MRI at the age of 4 months was initially normal, but at 18 months demonstrated leukodystrophic alterations as well, whereas NCVs were also significantly delayed. In both patients, a severe decrease in β-GALC, activity supported the diagnosis of Krabbe disease, while the final diagnosis was confirmed by molecular genetic testing. Two homozygous mutations of the

Indexed as

GALC geneKrabbe diseaseLeukodystrophyMutationNerve conduction velocity (NCV)β-galactocerebrosidase (β-GALC)

Identifiers

PMID27785412
PMCPMC5026284
OpenAlexW2482081287

What OpenQuestion holds

Textmetadata
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.