Evidence map›Paper›PMID 41236093›Full record

ArticleAnnals of clinical and translational neurology2026

Dorsolateral Cervical Cord T2 Hyperintensity in KIF1C-Related Disease (Spastic Paraplegia 58): Two Long-Duration Cases.

Akihiko Mitsutake, Masao Osaki, Takashi Matsukawa, Miho Osako, Chisen Takeuchi, Hiroyuki Ishiura, Jun Mitsui, Ryo Kurokawa, Harushi Mori, Yuji Takahashi and 3 more

Abstract readCase Reports
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In one paragraph

Article in Annals of clinical and translational neurology, 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
0cells of the map it votes in
0citing 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

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

13 authors.

Akihiko MitsutakeDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.ORCID 0000-0002-9165-0193
Masao OsakiDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
Takashi MatsukawaDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
Miho OsakoDepartment of Neurology, Tokyo Metropolitan Kita Medical and Rehabilitation Center for the Disabled, Tokyo, Japan.ORCID 0000-0002-5088-2879
Chisen TakeuchiDepartment of Neurology, Tokyo Metropolitan Kita Medical and Rehabilitation Center for the Disabled, Tokyo, Japan.
Hiroyuki IshiuraDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
Jun MitsuiDepartment of Precision Medicine Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
Ryo KurokawaDepartment of Radiology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.ORCID 0000-0002-1186-8900
Harushi MoriDepartment of Radiology, School of Medicine, Jichi Medical University, Tochigi, Japan.
Yuji TakahashiDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
Jun GotoDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
Shoji TsujiInstitute of Medical Genomics, International University of Health and Welfare, Chiba, Japan.
Tatsushi TodaDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.

Funding

Japan Agency for Medical Research and Development 20ek0109491h0001Japan Agency for Medical Research and Development 21ek0109491h0002Japan Agency for Medical Research and Development 22ek0109491h0003Japan Agency for Medical Research and Development 23ek0109673h0001
6 · The paper itself

Abstract

Pathogenic variants in KIF1C cause Spastic Paraplegia 58 (SPG58), typically presenting with cerebellar ataxia and spastic paraparesis. We report two unrelated patients with spastic paraparesis, cerebellar ataxia, and tremor. Whole-exome sequence analysis identified novel homozygous variants in the motor domain of KIF1C (NM_006612.6): c.921G>A (p.Trp307Ter) and c.607C>T (p.Arg203Trp). In addition to the canonical brain MRI showing leukoencephalopathy with posterior dominance and hyperintensity along the corticospinal tracts, both patients showed symmetric T2 hyperintensity confined to the lateral and dorsal columns of the cervical cord. Given the long disease durations (22 and 51 years), these findings may represent late-emerging or previously overlooked spinal cord involvement and broaden the neuroradiological spectrum of SPG58.

Indexed as

Cervical CordKinesinsSpastic Paraplegia, HereditaryAdultFemaleHumansMagnetic Resonance ImagingMaleMiddle AgedKinesinscerebellar ataxiahereditary spastic paraplegiaKIF1Cleukoencephalopathy

Identifiers

PMID41236093
PMCPMC12883705

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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.