Evidence map›Paper›PMID 41730688›Full record

ArticleMovement disorders : official journal of the Movement Disorder Society2026

Brain Sphingolipid and Phospholipid Levels Are Altered in XK Disease.

Gabriel Miltenberger-Miltenyi, Vasco A Conceição, Klaudia F Laborc, Attila Jones, John F Crary, Claudia De Sanctis, Emma L Thorn, Lily Yu-Chia Chiu, Stephanie McQuillan, Kurt Farrell and 13 more

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In one paragraph

Article in Movement disorders : official journal of the Movement Disorder Society, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
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0citing papers in PubMed
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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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

23 authors.

Gabriel Miltenberger-MiltenyiLaboratório de Genética, Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal.
Vasco A ConceiçãoInstituto de Fisiologia, Faculdade de Medicina, Universidade de Lisboa, Lisbon, Portugal.
Klaudia F LaborcDepartment of Pathology, Molecular, and Cell Based Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Attila JonesClinical and Translational Neuroscience Section, Laboratory of Behavioral Neuroscience, National Institute on Aging (NIA), National Institutes of Health (NIH), Baltimore, Maryland, USA.
John F CraryDepartment of Pathology, Molecular, and Cell Based Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Claudia De SanctisDepartment of Pathology, Molecular, and Cell Based Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Emma L ThornDepartment of Pathology, Molecular, and Cell Based Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Lily Yu-Chia ChiuDepartment of Pathology, Molecular, and Cell Based Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Stephanie McQuillanDepartment of Pathology, Molecular, and Cell Based Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, USA.ORCID https://orcid.org/0000-0003-4064-1630
Kurt FarrellDepartment of Pathology, Molecular, and Cell Based Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, USA.ORCID https://orcid.org/0000-0001-6955-7278
Renu NandakumarBiomarkers Core Laboratory, Irving Institute for Clinical and Translational Research, Columbia University Irving Medical Center, New York, New York, USA.
Safa Al-SarrajLondon Neurodegenerative Diseases Brain Bank, Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom.ORCID https://orcid.org/0000-0002-6783-3571
Dennis DicksonDepartment of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA.
Amie HillerDepartment of Neurology, Oregon Health and Science University, Portland, Oregon, USA.
Susan MorgelloFriedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Angelika MühlebnerDepartment of Pathology, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
Esther SammlerMedical Research Council (MRC) Protein Phosphorylation and Ubiquitylation Unit, School of Life Sciences, University of Dundee, Dundee, United Kingdom.ORCID https://orcid.org/0000-0003-3218-7116
Claire TroakesLondon Neurodegenerative Diseases Brain Bank, Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, United Kingdom.
Wim Van HeckeDepartment of Pathology, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
Henk-Jan WestenengDepartment of Neurology, University Medical Center Utrecht Brain Center, Utrecht University, Utrecht, the Netherlands.
Randall WoltjerDepartment of Pathology, Oregon Health and Science University, Portland, Oregon, USA.
Zbigniew K WszolekDepartment of Neurology, Mayo Clinic Florida, Jacksonville, Florida, USA.
Ruth H WalkerNeuropathology Brain Bank & Research CoRE, Icahn School of Medicine at Mount Sinai, New York, New York, USA.

Funding

The Manhattan HIV Brain BankU24MH100931 · NIMH · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI MORGELLO, SUSAN · 2013 to 2023
$14.0M
NIMH NIH HHS U24 MH100931
6 · The paper itself

Abstract

backgroundXK disease is a multisystem neurodegenerative disorder caused by mutations in the XK gene that codes for the lipid scramblase XK.

objectiveThe aim was to describe the lipidomic spectrum in postmortem brain tissue from XK patients.

methodsWe measured the levels of 593 lipid species in the caudate nucleus (CN), putamen, and dorsolateral prefrontal cortex (DLPFC) from postmortem tissues of 5 XK patients and 6 controls.

resultsIn XK patients, we observed increased levels of triacylglycerol, monoacylglycerol, phosphatidylserine, and ceramide in the CN. Acylated phosphatidylglycerol levels were reduced in both the CN and putamen. Acyl carnitine, dihydrosphingomyelin, and monosialodihexosylganglioside were reduced, whereas N-acyl phosphatidylethanolamine was increased in the DLPFC. N-Acyl serine was reduced in all three regions.

conclusionsOur findings provide initial evidence of abnormal sphingolipid and phospholipid concentrations in the brains of XK patients and may provide insights into mechanisms of neurodegeneration in this disease. © 2026 International Parkinson and Movement Disorder Society.

Indexed as

BrainPhospholipidsSphingolipidsAdultAgedFemaleHumansMaleMiddle AgedPhospholipid Transfer ProteinsPhospholipidsPhospholipid Transfer ProteinsSphingolipidsbrainphospholipidsphingolipidXK disease

Identifiers

PMID41730688
PMCPMC13387966

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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.