Evidence map›Paper›PMID 40794111›Full record

ArticleNeurogenetics2025

KIF1C-related disorders: spastic ataxia or hypomyelinating leukodystrophy? A paradigm of classification ambiguity.

Chiara Benzoni, Marco Moscatelli, Daniela Di Bella, Ettore Salsano

Abstract readCase Reports
PubMed Publisher
In one paragraph

Article in Neurogenetics, 2025. 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

4 authors.

Chiara BenzoniUnit of Rare Neurological Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, via Celoria 11, 20133, Milano, Italia.
Marco MoscatelliUnit of Neuroradiology, Department of Diagnostic and Applied Technology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italia.
Daniela Di BellaUnit of Medical Genetics and Neurogenetics, Department of Diagnostic and Applied Technology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italia.
Ettore SalsanoUnit of Rare Neurological Diseases, Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, via Celoria 11, 20133, Milano, Italia. ettore.salsano@istituto-besta.it.

Funding

Ministero della Salute "Ricerca Corrente" grant to ES
6 · The paper itself

Abstract

A 40-year-old man with adult-onset spastic-ataxia and tremor showed a leukoencephalopathy with a hypomyelinating pattern on brain MRI. Whole-exome sequencing identified two novel likely pathogenic variants in KIF1C, a gene associated with spastic-ataxia type 2 (SPAX2). This case supports including KIF1C among the causes of adult-onset hypomyelinating leukodystrophies and highlights the diagnostic overlap between spastic-ataxia, hereditary spastic paraplegia, and hypomyelinating leukodystrophies, underscoring the limitations of current nomenclature.

Indexed as

Hereditary Central Nervous System Demyelinating DiseasesKinesinsLeukoencephalopathiesMuscle SpasticitySpinocerebellar AtaxiasAdultBrainExome SequencingHumansIntellectual DisabilityMagnetic Resonance ImagingMaleMutationOptic AtrophySpastic Paraplegia, HereditaryKinesinsAdultGeneticLeukoencephalopathyMRISpastic-ataxia

Identifiers

PMID40794111

What OpenQuestion holds

Textmetadata
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.