Evidence map›Paper›PMID 42113316›Full record

ArticleNeurogenetics2026

Spastic paraparesis linked to a rare presenilin-1 mutation.

Catarina Teles, João Durães, Pedro Faustino, Inês Baldeiras, Helena Gens, Miguel Tábuas Pereira, Maria Rosário Almeida, Isabel Santana

Abstract readCase Reports
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In one paragraph

Article in Neurogenetics, 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.

Catarina TelesNeurology Department, Hospitals of University of Coimbra, Local Health Unit of Coimbra, Coimbra, Portugal.
João DurãesNeurology Department, Hospitals of University of Coimbra, Local Health Unit of Coimbra, Coimbra, Portugal.
Pedro FaustinoNeurology Department, Hospitals of University of Coimbra, Local Health Unit of Coimbra, Coimbra, Portugal.
Inês BaldeirasFaculty of Medicine, University of Coimbra, Coimbra, Portugal.
Helena GensNeurology Department, Hospitals of University of Coimbra, Local Health Unit of Coimbra, Coimbra, Portugal.
Miguel Tábuas PereiraNeurology Department, Hospitals of University of Coimbra, Local Health Unit of Coimbra, Coimbra, Portugal. miguelatcp@gmail.com.
Maria Rosário AlmeidaCentre for Innovative Biomedicine and Biotechnology (CIBB), University of Coimbra, Coimbra, Portugal.
Isabel SantanaNeurology Department, Hospitals of University of Coimbra, Local Health Unit of Coimbra, Coimbra, Portugal.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Familial Alzheimer's disease (FAD) accounts for < 1% of AD cases and is mainly associated with pathogenic variations in presenilin 1 (PSEN1), PSEN2 and the amyloid precursor protein [1]. Most patients present with an earlier onset classic amnestic syndrome [2]. We report a 37-year-old female with progressive spastic paraparesis (SP), wheelchair-dependent at 40-years-old and bedridden at 43yo. She developed mild cognitive complaints at 41yo. Multigene panel revealed a rare probably pathogenic heterozygous PSEN1 variant (p.Pro433Ser). CSF was consistent with pathological Alzheimer continuum. This highlights the importance of considering AD in SP of undetermined cause, showing a novel clinical association between PSEN1 p.Pro433Ser and SP.

Indexed as

MutationParaparesis, SpasticPresenilin-1AdultAlzheimer DiseaseFemaleHumansPresenilin-1PSEN1 protein, human

Identifiers

PMID42113316

What OpenQuestion holds

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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.