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Genotype–Phenotype Correlation in Progressive Supranuclear Palsy Syndromes: Clinical and Radiological Similarities and Specificities
The progressive supranuclear palsy (PSP) syndrome encompasses different entities. PSP disease of sporadic origin is the most frequent presentation, but different genetic mutations can lead either to monogenic variants of PSP disease, or to other conditions with a different pathophysiology that event...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Frontiers Media S.A.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9087829/ https://www.ncbi.nlm.nih.gov/pubmed/35557621 http://dx.doi.org/10.3389/fneur.2022.861585 |
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author | Ruiz-Barrio, Iñigo Horta-Barba, Andrea Illán-Gala, Ignacio Kulisevsky, Jaime Pagonabarraga, Javier |
author_facet | Ruiz-Barrio, Iñigo Horta-Barba, Andrea Illán-Gala, Ignacio Kulisevsky, Jaime Pagonabarraga, Javier |
author_sort | Ruiz-Barrio, Iñigo |
collection | PubMed |
description | The progressive supranuclear palsy (PSP) syndrome encompasses different entities. PSP disease of sporadic origin is the most frequent presentation, but different genetic mutations can lead either to monogenic variants of PSP disease, or to other conditions with a different pathophysiology that eventually may result in PSP phenotype. PSP syndrome of monogenic origin is poorly understood due to the low prevalence and variable expressivity of some mutations. Through this review, we describe how early age of onset, family history of early dementia, parkinsonism, dystonia, or motor neuron disease among other clinical features, as well as some neuroimaging signatures, may be the important clues to suspect PSP syndrome of monogenic origin. In addition, a diagnostic algorithm is proposed that may be useful to guide the genetic diagnosis once there is clinical suspicion of a monogenic PSP syndrome. |
format | Online Article Text |
id | pubmed-9087829 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-90878292022-05-11 Genotype–Phenotype Correlation in Progressive Supranuclear Palsy Syndromes: Clinical and Radiological Similarities and Specificities Ruiz-Barrio, Iñigo Horta-Barba, Andrea Illán-Gala, Ignacio Kulisevsky, Jaime Pagonabarraga, Javier Front Neurol Neurology The progressive supranuclear palsy (PSP) syndrome encompasses different entities. PSP disease of sporadic origin is the most frequent presentation, but different genetic mutations can lead either to monogenic variants of PSP disease, or to other conditions with a different pathophysiology that eventually may result in PSP phenotype. PSP syndrome of monogenic origin is poorly understood due to the low prevalence and variable expressivity of some mutations. Through this review, we describe how early age of onset, family history of early dementia, parkinsonism, dystonia, or motor neuron disease among other clinical features, as well as some neuroimaging signatures, may be the important clues to suspect PSP syndrome of monogenic origin. In addition, a diagnostic algorithm is proposed that may be useful to guide the genetic diagnosis once there is clinical suspicion of a monogenic PSP syndrome. Frontiers Media S.A. 2022-04-26 /pmc/articles/PMC9087829/ /pubmed/35557621 http://dx.doi.org/10.3389/fneur.2022.861585 Text en Copyright © 2022 Ruiz-Barrio, Horta-Barba, Illán-Gala, Kulisevsky and Pagonabarraga. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Neurology Ruiz-Barrio, Iñigo Horta-Barba, Andrea Illán-Gala, Ignacio Kulisevsky, Jaime Pagonabarraga, Javier Genotype–Phenotype Correlation in Progressive Supranuclear Palsy Syndromes: Clinical and Radiological Similarities and Specificities |
title | Genotype–Phenotype Correlation in Progressive Supranuclear Palsy Syndromes: Clinical and Radiological Similarities and Specificities |
title_full | Genotype–Phenotype Correlation in Progressive Supranuclear Palsy Syndromes: Clinical and Radiological Similarities and Specificities |
title_fullStr | Genotype–Phenotype Correlation in Progressive Supranuclear Palsy Syndromes: Clinical and Radiological Similarities and Specificities |
title_full_unstemmed | Genotype–Phenotype Correlation in Progressive Supranuclear Palsy Syndromes: Clinical and Radiological Similarities and Specificities |
title_short | Genotype–Phenotype Correlation in Progressive Supranuclear Palsy Syndromes: Clinical and Radiological Similarities and Specificities |
title_sort | genotype–phenotype correlation in progressive supranuclear palsy syndromes: clinical and radiological similarities and specificities |
topic | Neurology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9087829/ https://www.ncbi.nlm.nih.gov/pubmed/35557621 http://dx.doi.org/10.3389/fneur.2022.861585 |
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