Evidence map›Paper›PMID 36889712›Full record

ArticleInternal medicine (Tokyo, Japan)2023

Long-term Observation of a Japanese Patient with a Multiple-system Neurodegenerative Disorder with a Uniallelic de novo Missense Variant in KIF1A.

Katsuya Nakamura, Tsuneaki Yoshinaga, Minori Kodaira, Emiko Kise, Tomoki Kosho, Yoshiki Sekijima

Open access · diamondAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Internal medicine (Tokyo, Japan), 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.3field-weighted citation impact, top 32% 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

1 citing paper in PubMed, 1 citations in OpenAlex.

  1. Article
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

6 authors at 2 institutions in 1 country.

Katsuya NakamuraCenter for Medical Genetics, Shinshu University Hospital, Japan.
Tsuneaki YoshinagaCenter for Medical Genetics, Shinshu University Hospital, Japan.
Minori KodairaDepartment of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Japan.
Emiko KiseCenter for Medical Genetics, Shinshu University Hospital, Japan.
Tomoki KoshoCenter for Medical Genetics, Shinshu University Hospital, Japan.
Yoshiki SekijimaDepartment of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Japan.
Shinshu University · JPShinshu University Hospital · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We encountered a 37-year-old Japanese man with KIF1A-associated neurological disorder (KAND) who exhibited motor developmental delay, intellectual disability, and slowly progressive cerebellar ataxia, hypotonia, and optic neuropathy. Pyramidal tract signs were evident late in this case. At 30 years old, the patient developed a neurogenic bladder. A molecular diagnosis revealed a uniallelic missense de novo variant (p.L278P) of KIF1A. Serial neuroradiological studies revealed atrophy of the cerebellum at an early age, and cerebral hemisphere atrophy progressed slowly over a 22-year observation period. Our study suggests that the primary etiology of KAND may be acquired, long-standing neurodegeneration rather than congenital hypoplasia.

Indexed as

Neurodegenerative DiseasesAdultAtrophyCerebellumEast Asian PeopleHumansIntellectual DisabilityKinesinsMaleMutation, MissenseKIF1A protein, humanKinesinsataxiaintellectual disabilityKANDKIF1Amultiple-system neurodegeneration

Identifiers

PMID36889712
PMCPMC10641196
OpenAlexW4323519567

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.