Evidence map›Paper›PMID 41398615›Full record

ArticleAnnals of clinical and translational neurology2026

An Out-of-Place Etiology: Recognizing FMR1 Premutation in the Memory Clinic.

Guido Greco, Caterina Motta, Enrica Marchionni, Maria Rosaria D'Apice, Carlangelo Carrese, Giuseppe Novelli, Alessandro Martorana, Chiara Giuseppina Bonomi

Abstract readCase Reports
PubMed Full text at PMC Publisher
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

8 authors.

Guido GrecoMemory Clinic and Neurodegenerative Dementia Research Unit, Policlinico Tor Vergata, University of Rome "Tor Vergata", Rome, Italy.ORCID 0009-0001-1772-123X
Caterina MottaMemory Clinic and Neurodegenerative Dementia Research Unit, Policlinico Tor Vergata, University of Rome "Tor Vergata", Rome, Italy.
Enrica MarchionniMedical Genetics Unit, Policlinico Tor Vergata, University of Rome "Tor Vergata", Rome, Italy.ORCID 0000-0002-0341-6461
Maria Rosaria D'ApiceMedical Genetics Unit, Policlinico Tor Vergata, University of Rome "Tor Vergata", Rome, Italy.
Carlangelo CarreseMemory Clinic and Neurodegenerative Dementia Research Unit, Policlinico Tor Vergata, University of Rome "Tor Vergata", Rome, Italy.ORCID 0009-0004-2978-5902
Giuseppe NovelliMedical Genetics Unit, Policlinico Tor Vergata, University of Rome "Tor Vergata", Rome, Italy.ORCID 0000-0002-7781-602X
Alessandro MartoranaMemory Clinic and Neurodegenerative Dementia Research Unit, Policlinico Tor Vergata, University of Rome "Tor Vergata", Rome, Italy.
Chiara Giuseppina BonomiMemory Clinic and Neurodegenerative Dementia Research Unit, Policlinico Tor Vergata, University of Rome "Tor Vergata", Rome, Italy.ORCID 0000-0002-0881-8435

Funding

"Contributo per l'implementazione della Rete Regionale delle Malattie Rare" G10269/2024
6 · The paper itself

Abstract

The FMR1 gene premutation (55-200 CGG repeats) is usually associated with a wide range of symptoms and phenotypes within the Fragile X-tremor/ataxia syndrome (FXTAS), but may also manifest as predominant or isolated cognitive decline. We describe three male patients referred for progressive cognitive impairment and behavioral changes. Standard work-up, including MRI, FDG-PET, CSF biomarkers, and neuropsychological testing, excluded common dementias. Brain MRI imaging revealed callosal and peduncular white matter changes, while 18FDG-PET showed consistent anterior cingulate hypometabolism. Genetic analysis confirmed FMR1 premutation in all cases. Clinicians in memory clinics should consider this diagnosis in cases of unexplained cognitive decline.

Indexed as

AtaxiaCognitive DysfunctionFragile X Messenger Ribonucleoprotein 1Fragile X SyndromeTremorAgedHumansMagnetic Resonance ImagingMaleMiddle AgedFMR1 protein, humanFragile X Messenger Ribonucleoprotein 1cognitive declineearly‐onset dementiaFMR1 premutationfragile X‐associated tremor/ataxia syndrome (FXTAS)genetic diagnosis

Identifiers

PMID41398615
PMCPMC12968457

What Socratic 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 Socratic graph.