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X Demographics
Mendeley readers
Attention Score in Context
| Title |
Presenilin-1 Mutations Are a Cause of Primary Lateral Sclerosis-Like Syndrome
|
|---|---|
| Published in |
Frontiers in Molecular Neuroscience, August 2021
|
| DOI | 10.3389/fnmol.2021.721047 |
| Pubmed ID | |
| Authors |
Juan Francisco Vázquez-Costa, María Payá-Montes, Marina Martínez-Molina, Teresa Jaijo, Jazek Szymanski, Miguel Mazón, Pablo Sopena-Novales, ENoD Consortium, Jordi Pérez-Tur, Teresa Sevilla, Beatriz Morte, Rosario Carmona, Javier Perez-Florido, Virginia Aquino, Francisco Ortuño, Daniel Lopez-Lopez, Gerrit Bostelmann, Joaquin Dopazo, Luis Alberto Pérez-Jurado |
| Abstract |
Primary lateral sclerosis (PLS) is a progressive upper motor neuron (UMN) disorder. It is debated whether PLS is part of the amyotrophic lateral sclerosis (ALS) spectrum, or a syndrome encompassing different neurodegenerative diseases. Recently, new diagnostic criteria for PLS have been proposed. We describe four patients of two pedigrees, meeting definite PLS criteria and harboring two different mutations in presenilin 1 (PSEN1). Patients underwent neurological and neuropsychological examination, MRI, 18F-fluorodeoxyglucose positron emission tomography (FDG-PET), amyloid-related biomarkers, and next-generation sequencing (NGS) testing. Four patients, aged 25-45 years old, presented with a progressive UMN syndrome meeting clinical criteria of definite PLS. Cognitive symptoms and signs were mild or absent during the first year of the disease but appeared or progressed later in the disease course. Brain MRI showed microbleeds in two siblings, but iron-related hypointensities in the motor cortex were absent. Brain FDG-PET showed variable areas of hypometabolism, including the motor cortex and frontotemporal lobes. Amyloid deposition was confirmed with either cerebrospinal fluid (CSF) or imaging biomarkers. Two heterozygous likely pathogenic mutations in PSEN1 (p.Pro88Leu and p.Leu166Pro) were found in the NGS testing. Clinically defined PLS is a syndrome encompassing different neurodegenerative diseases. The NGS testing should be part of the diagnostic workup in patients with PLS, at least in those with red flags, such as early-onset, cognitive impairment, and/or family history of neurodegenerative diseases. |
X Demographics
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Germany | 1 | 25% |
| Venezuela, Bolivarian Republic of | 1 | 25% |
| Unknown | 2 | 50% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 4 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 25 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 25 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 7 | 28% |
| Researcher | 2 | 8% |
| Student > Doctoral Student | 2 | 8% |
| Unspecified | 1 | 4% |
| Lecturer | 1 | 4% |
| Other | 1 | 4% |
| Unknown | 11 | 44% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 3 | 12% |
| Unspecified | 2 | 8% |
| Agricultural and Biological Sciences | 2 | 8% |
| Neuroscience | 2 | 8% |
| Business, Management and Accounting | 1 | 4% |
| Other | 3 | 12% |
| Unknown | 12 | 48% |
Attention Score in Context
This research output has an Altmetric Attention Score of 11. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 27 September 2021.
All research outputs
#2,779,822
of 23,310,485 outputs
Outputs from Frontiers in Molecular Neuroscience
#334
of 2,971 outputs
Outputs of similar age
#64,434
of 429,504 outputs
Outputs of similar age from Frontiers in Molecular Neuroscience
#11
of 78 outputs
Altmetric has tracked 23,310,485 research outputs across all sources so far. Compared to these this one has done well and is in the 87th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 2,971 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 5.7. This one has done well, scoring higher than 88% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 429,504 tracked outputs that were published within six weeks on either side of this one in any source. This one has done well, scoring higher than 84% of its contemporaries.
We're also able to compare this research output to 78 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 85% of its contemporaries.