Evidence map›Paper›PMID 42130092›Full record

ArticleNeuropathology and applied neurobiology2026

FTLD-TDP-43 With Motor Neuron Disease Pathology in an Autopsied Patient With Spastic Paraplegia-30B Harbouring a Homozygous KIF1A Variant.

Rie Saito, Arika Hasegawa, Tetsuya Takahashi, Ryoko Koike, Norikazu Hara, Ramil Gabdulkhaev, Kishin Koh, Akio Kawakami, Yoshihisa Takiyama, Takeshi Ikeuchi and 1 more

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In one paragraph

Article in Neuropathology and applied neurobiology, 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

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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

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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

11 authors.

Rie SaitoDepartment of Pathology, Brain Research Institute, Niigata University, Chuo-ku, Niigata, Japan.ORCID 0000-0001-7294-5183
Arika HasegawaDepartment of Neurology, NHO Nishiniigata Chuo Hospital, Nishi-ku, Niigata, Japan.
Tetsuya TakahashiDepartment of Neurology, NHO Nishiniigata Chuo Hospital, Nishi-ku, Niigata, Japan.ORCID 0000-0002-3934-0219
Ryoko KoikeDepartment of Neurology, NHO Nishiniigata Chuo Hospital, Nishi-ku, Niigata, Japan.
Norikazu HaraDepartment of Molecular Genetics, Brain Research Institute, Niigata University, Chuo-ku, Niigata, Japan.ORCID 0000-0001-8525-3469
Ramil GabdulkhaevDepartment of Pathology, Brain Research Institute, Niigata University, Chuo-ku, Niigata, Japan.ORCID 0000-0001-6929-2388
Kishin KohDepartment of Neurology, Yumura Onsen Hospital, Kofu, Yamanashi, Japan.ORCID 0000-0001-8519-7874
Akio KawakamiDepartment of Neurology, Kaetsu Hospital, Akiha-ku, Niigata, Japan.ORCID 0000-0001-8509-3506
Yoshihisa TakiyamaDepartment of Neurology, Graduate School of Medical Sciences, University of Yamanashi, Chuo, Yamanashi, Japan.ORCID 0000-0002-5400-7107
Takeshi IkeuchiDepartment of Molecular Genetics, Brain Research Institute, Niigata University, Chuo-ku, Niigata, Japan.ORCID 0000-0001-8828-8085
Akiyoshi KakitaDepartment of Pathology, Brain Research Institute, Niigata University, Chuo-ku, Niigata, Japan.ORCID 0000-0003-4244-0277

Funding

Japan Agency for Medical Research and Development JP23jm0210097Japan Agency for Medical Research and Development JP24zf0127012Japan Society for the Promotion of Science 23H00434Japan Society for the Promotion of Science 24K10617Japan Society for the Promotion of Science JPJS00420240016Ministry of Health, Labour and Welfare of Japan JPMH23FC1008Ministry of Health, Labour and Welfare of Japan JPMH23FC1010
6 · The paper itself

Abstract

KIF1A-associated neurological disorder (KAND) is a rare hereditary condition caused by KIF1A variants, affecting axonal transport and presenting with a wide clinical spectrum, including hereditary spastic paraplegia. This case of childhood-onset KAND reveals FTLD-TDP43 with motor neuron disease pathology emerging late in the disease course, suggesting that HSP and FTLD-MND share a pathological continuum through a TDP-43-related pathway and expanding the clinicopathological spectrum of KAND.

Indexed as

DNA-Binding ProteinsFrontotemporal Lobar DegenerationKinesinsMotor Neuron DiseaseSpastic Paraplegia, HereditaryAutopsyBrainFemaleHomozygoteHumansMaleDNA-Binding ProteinsKIF1A protein, humanKinesinsTARDBP protein, humanFTLD‐TDP‐43 with MNDhereditary spastic paraplegia type 30BKIF1A variantneuropathologySCA31

Identifiers

PMID42130092
PMCPMC13172651

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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.