Evidence map›Paper›PMID 37341843›Full record

ArticleNeurogenetics2023

PSEN1/SLC20A2 double mutation causes early-onset Alzheimer's disease and primary familial brain calcification co-morbidity.

Sophie Hebestreit, Janine Schwahn, Vesile Sandikci, Mate E Maros, Ivan Valkadinov, Rüstem Yilmaz, Lukas Eckrich, Seyed Babak Loghmani, Hendrik Lesch, Julian Conrad and 4 more

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

Article in Neurogenetics, 2023. 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
1.0field-weighted citation impact, top 21% 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, 4 citations in OpenAlex.

  1. A Novel Frameshift Mutation inBiomedicines · 2026
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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

14 authors at 2 institutions in 1 country.

Sophie HebestreitDivision of Neurodegenerative Disorders, Department of Neurology, Mannheim Center for Translational Neurosciences, Medical Faculty Mannheim, Heidelberg University, Theodor-Kutzer-Ufer 1-3, 68167, Mannheim, Germany.ORCID http://orcid.org/0000-0002-2075-4374
Janine SchwahnDivision of Neurodegenerative Disorders, Department of Neurology, Mannheim Center for Translational Neurosciences, Medical Faculty Mannheim, Heidelberg University, Theodor-Kutzer-Ufer 1-3, 68167, Mannheim, Germany.
Vesile SandikciDepartment of Neurology, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany.
Mate E MarosDepartment of Neuroradiology, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany.
Ivan ValkadinovDivision of Neurodegenerative Disorders, Department of Neurology, Mannheim Center for Translational Neurosciences, Medical Faculty Mannheim, Heidelberg University, Theodor-Kutzer-Ufer 1-3, 68167, Mannheim, Germany.
Rüstem YilmazDivision of Neurodegenerative Disorders, Department of Neurology, Mannheim Center for Translational Neurosciences, Medical Faculty Mannheim, Heidelberg University, Theodor-Kutzer-Ufer 1-3, 68167, Mannheim, Germany.
Lukas EckrichDivision of Neurodegenerative Disorders, Department of Neurology, Mannheim Center for Translational Neurosciences, Medical Faculty Mannheim, Heidelberg University, Theodor-Kutzer-Ufer 1-3, 68167, Mannheim, Germany.
Seyed Babak LoghmaniDivision of Neurodegenerative Disorders, Department of Neurology, Mannheim Center for Translational Neurosciences, Medical Faculty Mannheim, Heidelberg University, Theodor-Kutzer-Ufer 1-3, 68167, Mannheim, Germany.
Hendrik LeschDepartment of Neurology, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany.
Julian ConradDivision of Neurodegenerative Disorders, Department of Neurology, Mannheim Center for Translational Neurosciences, Medical Faculty Mannheim, Heidelberg University, Theodor-Kutzer-Ufer 1-3, 68167, Mannheim, Germany.
Holger WenzDepartment of Neuroradiology, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany.
Anne EbertDepartment of Neurology, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany.
David BrennerDivision of Neurodegenerative Disorders, Department of Neurology, Mannheim Center for Translational Neurosciences, Medical Faculty Mannheim, Heidelberg University, Theodor-Kutzer-Ufer 1-3, 68167, Mannheim, Germany.
Jochen H WeishauptDivision of Neurodegenerative Disorders, Department of Neurology, Mannheim Center for Translational Neurosciences, Medical Faculty Mannheim, Heidelberg University, Theodor-Kutzer-Ufer 1-3, 68167, Mannheim, Germany. jochen.weishaupt@medma.uni-heidelberg.de.
Heidelberg University · DEUniversität Ulm · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Primary familial brain calcification (PFBC; formerly Fahr's disease) and early-onset Alzheimer's disease (EOAD) may share partially overlapping pathogenic principles. Although the heterozygous loss-of-function mutation c.1523 + 1G > T in the PFBC-linked gene SLC20A2 was detected in a patient with asymmetric tremor, early-onset dementia, and brain calcifications, CSF β-amyloid parameters and FBB-PET suggested cortical β-amyloid pathology. Genetic re-analysis of exome sequences revealed the probably pathogenic missense mutation c.235G > A/p.A79T in PSEN1. The SLC20A2 mutation segregated with mild calcifications in two children younger than 30 years. We thus describe the stochastically extremely unlikely co-morbidity of genetic PFBC and genetic EOAD. The clinical syndromes pointed to additive rather than synergistic effects of the two mutations. MRI data revealed the formation of PFBC calcifications decades before the probable onset of the disease. Our report furthermore exemplifies the value of neuropsychology and amyloid PET for differential diagnosis.

Indexed as

Alzheimer DiseaseBasal Ganglia DiseasesBrain DiseasesBrainChildHumansMorbidityMutationPresenilin-1Sodium-Phosphate Cotransporter Proteins, Type IIIPresenilin-1PSEN1 protein, humanSLC20A2 protein, humanSodium-Phosphate Cotransporter Proteins, Type IIIAlzheimer’s diseaseCognitive disorderDementiaMovement disorderNeurogeneticsNeurosciencePrimary familial brain calcification

Identifiers

PMID37341843
PMCPMC10319679
OpenAlexW4381470367

What OpenQuestion holds

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LicenceCC BY
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.