Evidence map›Paper›PMID 37730935›Full record

ArticleNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2024

Parkinson-ALS with a novel MAPT variant.

Camilla Ferrari, Assunta Ingannato, Sabrina Matà, Silvia Ramat, Luca Caremani, Silvia Bagnoli, Valentina Bessi, Sandro Sorbi, Benedetta Nacmias

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

Article in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.8field-weighted citation impact, top 25% 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

4 citing papers in PubMed, 4 citations in OpenAlex.

  1. Review
  2. Prevalence and impact of comorbidities in amyotrophic lateral sclerosis.Journal of neural transmission (Vienna, Austria : 1996) · 2026
    Review
  3. Article
  4. Review
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

9 authors at 3 institutions in 1 country.

Camilla FerrariDepartment of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, 50134, Florence, Italy. camilla.ferrari@unifi.it.ORCID http://orcid.org/0000-0002-9019-259X
Assunta IngannatoDepartment of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, 50134, Florence, Italy.
Sabrina MatàNeuromuscular-Skeletal and Sensory Organs Department, AOU Careggi, Florence, Italy.
Silvia RamatParkinson Unit, Neuromuscular-Skeletal and Sensory Organs Department, AOU Careggi, Florence, Italy.
Luca CaremaniParkinson Unit, Neuromuscular-Skeletal and Sensory Organs Department, AOU Careggi, Florence, Italy.
Silvia BagnoliDepartment of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, 50134, Florence, Italy.
Valentina BessiDepartment of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, 50134, Florence, Italy.
Sandro SorbiDepartment of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, 50134, Florence, Italy.
Benedetta NacmiasDepartment of Neuroscience, Psychology, Drug Research and Child Health, University of Florence, 50134, Florence, Italy.
University of Florence · ITAzienda Ospedaliero-Universitaria Careggi · ITDon Carlo Gnocchi Foundation · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The mutations on microtubule associated protein tau (MAPT) gene manifest clinically with behavioural frontotemporal dementia (FTD), parkinsonism, such as progressive supranuclear palsy and corticobasal degeneration, and rarely with amyotrophic lateral sclerosis (ALS). FTD-parkinsonism and FTD-ALS are clinical overlaps included in the spectrum of MAPT mutation's phenotypes. The mutations on MAPT gene cause the dysfunction of tau protein determining its accumulation in neurofibrillary tangles. Recent data describe frequently the co-occurrence of the aggregation of tau protein and α-synuclein in patients with parkinsonism and Parkinson disease (PD), suggesting an interaction of the two proteins in determining neurodegenerative process. The sporadic description of PD-ALS clinical complex, known as Brait-Fahn-Schwarz disease, supports the hypothesis of common neuropathological pathways between different disorders. Here we report the case of a 54-year-old Italian woman with idiopathic PD later complicated by ALS carrying a novel MAPT variant (Pro494Leu). The variant is characterized by an amino acid substitution and is classified as damaging for MAPT functions. The case supports the hypothesis of tau dysfunction as the basis of multiple neurodegenerative disorders.

Indexed as

Amyotrophic Lateral SclerosisFrontotemporal DementiaParkinson DiseaseParkinsonian DisordersFemaleHumansMiddle AgedMutationtau ProteinsMAPT protein, humantau ProteinsBrait–Fahn–Schwarz diseaseClinical complexMAPTPD-ALS

Identifiers

PMID37730935
PMCPMC10857966
OpenAlexW4386881760

What Socratic holds

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LicenceCC BY
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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.