Evidence map›Paper›PMID 40873038›Full record

ArticleHGG advances2026

Targeted plasma proteomics uncover proteins associated with KIF5A-linked SPG10 and ALS spectrum disorders.

Jarosław Dulski, Arun K Boddapati, Barbara Risi, Pablo Iruzubieta, Antonio Orlacchio, Roberto Fernández-Torrón, Tamara Castillo-Triviño, Adolfo López de Munain, Steve Vucic, Alessandro Padovani and 10 more

Abstract read
In one paragraph

Article in HGG advances, 2026. 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
–field-weighted citation impact
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.

  1. Article
  2. Article
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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

20 authors.

Jarosław DulskiDivision of Neurological and Psychiatric Nursing, Medical University of Gdańsk, Gdansk, Poland; Neurology Department, St. Adalbert Hospital, Copernicus PL Ltd., Gdansk, Poland; Department of Neurology, Mayo Clinic, Jacksonville, FL, USA.
Arun K BoddapatiIndependent Scholar N Druid, Decatur, GA, USA.
Barbara RisiNeMO-Brescia Clinical Center for Neuromuscular Diseases, Brescia, Italy; Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.
Pablo IruzubietaNeurology Department, Donostia University Hospital, Osakidetza, and Biodonostia Health Research Institute-UPV-EHU, San Sebastián, Spain.
Antonio OrlacchioDepartment of Medicine and Surgery, University of Perugia, Perugia, Italy; Hospital Company of Perugia - "Santa Maria della Misericordia" Hospital, Perugia, Italy.
Roberto Fernández-TorrónNeurology Department, Donostia University Hospital, Osakidetza, and Biodonostia Health Research Institute-UPV-EHU, San Sebastián, Spain.
Tamara Castillo-TriviñoNeurology Department, Donostia University Hospital, Osakidetza, and Biodonostia Health Research Institute-UPV-EHU, San Sebastián, Spain.
Adolfo López de MunainNeurology Department, Donostia University Hospital, Osakidetza, and Biodonostia Health Research Institute-UPV-EHU, San Sebastián, Spain.
Steve VucicBrain and Nerve Research Centre, Concord Clinical School, University of Sydney, Concord Hospital, Sydney, New South Wales, Australia.
Alessandro PadovaniNeurology Unit, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.
Laura Donker KaatDepartment of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.
Tahsin Stefan BarakatDepartment of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.
Leonard PetrucelliDepartment of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
Mercedes PrudencioDepartment of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
John E LandersDepartment of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA.
Jochen H WeishauptDepartment of Neurology, Mannheim Center for Translational Neurosciences, Heidelberg University, Mannheim, Germany.
Andreas ProkopUniversity of Manchester, Manchester Academic Health Science Centre, Faculty of Biology, Medicine, and Health, School of Biology, Manchester, UK.
Massimiliano FilostoNeMO-Brescia Clinical Center for Neuromuscular Diseases, Brescia, Italy; Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.
Zbigniew K WszolekDepartment of Neurology, Mayo Clinic, Jacksonville, FL, USA. Electronic address: wszolek.zbigniew@mayo.edu.
Devesh C PantDepartment of Cell Biology, Emory University School of Medicine, Atlanta, GA, USA. Electronic address: dcpant@emory.edu.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

KIF5A (Kinesin family member 5A) is a motor protein that functions as a key component of the axonal transport machinery. Variants in KIF5A are linked to several neurodegenerative diseases, mainly spastic paraplegia type 10 (SPG10), Charcot-Marie-Tooth disease type 2 (CMT2), and amyotrophic lateral sclerosis (ALS). These diseases share motor neuron involvement but vary significantly in clinical presentation, severity, and progression. KIF5A variants are mainly categorized into N-terminal variants associated with SPG10/CMT2 and C-terminal variants linked to ALS. This study utilized a multiplex NULISA targeted platform to analyze plasma proteome from KIF5A-linked SPG10 and ALS individuals and compare them to healthy controls. Our results revealed distinct proteomic signatures, with significant alterations in proteins related to synaptic function and inflammation. Notably, neurofilament light polypeptide, a biomarker for neurodegenerative diseases, was elevated in KIF5A ALS but not in SPG10 individuals. Moreover, these findings can now be used to gain mechanistic understanding of axonopathies linking to N- versus C-terminal KIF5A variants affecting both central and peripheral nervous systems.

Indexed as

Amyotrophic Lateral SclerosisKinesinsProteomeProteomicsSpastic Paraplegia, HereditaryAdultAgedBiomarkersFemaleHumansMaleMiddle AgedBiomarkersKIF5A protein, humanKinesinsProteomeKIF5A, spastic paraplegia-10, amyotrophic lateral sclerosis, Charcot-Marie-Tooth disease type 2, proteomics, neurofilament light chain, axonopathy

Identifiers

PMID40873038
PMCPMC12903090

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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.