Clinical Spectrum of Tauopathies
Tauopathies are both clinical and pathological heterogeneous disorders characterized by neuronal and/or glial accumulation of misfolded tau protein. It is now well understood that every pathologic tauopathy may present with various clinical phenotypes based on the primary site of involvement and the...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2022-07-01
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| Series: | Frontiers in Neurology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fneur.2022.944806/full |
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| author | Nahid Olfati Nahid Olfati Ali Shoeibi Irene Litvan |
| author_facet | Nahid Olfati Nahid Olfati Ali Shoeibi Irene Litvan |
| author_sort | Nahid Olfati |
| collection | DOAJ |
| description | Tauopathies are both clinical and pathological heterogeneous disorders characterized by neuronal and/or glial accumulation of misfolded tau protein. It is now well understood that every pathologic tauopathy may present with various clinical phenotypes based on the primary site of involvement and the spread and distribution of the pathology in the nervous system making clinicopathological correlation more and more challenging. The clinical spectrum of tauopathies includes syndromes with a strong association with an underlying primary tauopathy, including Richardson syndrome (RS), corticobasal syndrome (CBS), non-fluent agrammatic primary progressive aphasia (nfaPPA)/apraxia of speech, pure akinesia with gait freezing (PAGF), and behavioral variant frontotemporal dementia (bvFTD), or weak association with an underlying primary tauopathy, including Parkinsonian syndrome, late-onset cerebellar ataxia, primary lateral sclerosis, semantic variant PPA (svPPA), and amnestic syndrome. Here, we discuss clinical syndromes associated with various primary tauopathies and their distinguishing clinical features and new biomarkers becoming available to improve in vivo diagnosis. Although the typical phenotypic clinical presentations lead us to suspect specific underlying pathologies, it is still challenging to differentiate pathology accurately based on clinical findings due to large phenotypic overlaps. Larger pathology-confirmed studies to validate the use of different biomarkers and prospective longitudinal cohorts evaluating detailed clinical, biofluid, and imaging protocols in subjects presenting with heterogenous phenotypes reflecting a variety of suspected underlying pathologies are fundamental for a better understanding of the clinicopathological correlations. |
| first_indexed | 2024-04-11T21:07:30Z |
| format | Article |
| id | doaj.art-20d86e2ada09492383ed8478272b4956 |
| institution | Directory Open Access Journal |
| issn | 1664-2295 |
| language | English |
| last_indexed | 2024-04-11T21:07:30Z |
| publishDate | 2022-07-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Neurology |
| spelling | doaj.art-20d86e2ada09492383ed8478272b49562022-12-22T04:03:11ZengFrontiers Media S.A.Frontiers in Neurology1664-22952022-07-011310.3389/fneur.2022.944806944806Clinical Spectrum of TauopathiesNahid Olfati0Nahid Olfati1Ali Shoeibi2Irene Litvan3Department of Neurology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, IranUC San Diego Department of Neurosciences, Parkinson and Other Movement Disorder Center, San Diego, CA, United StatesDepartment of Neurology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, IranUC San Diego Department of Neurosciences, Parkinson and Other Movement Disorder Center, San Diego, CA, United StatesTauopathies are both clinical and pathological heterogeneous disorders characterized by neuronal and/or glial accumulation of misfolded tau protein. It is now well understood that every pathologic tauopathy may present with various clinical phenotypes based on the primary site of involvement and the spread and distribution of the pathology in the nervous system making clinicopathological correlation more and more challenging. The clinical spectrum of tauopathies includes syndromes with a strong association with an underlying primary tauopathy, including Richardson syndrome (RS), corticobasal syndrome (CBS), non-fluent agrammatic primary progressive aphasia (nfaPPA)/apraxia of speech, pure akinesia with gait freezing (PAGF), and behavioral variant frontotemporal dementia (bvFTD), or weak association with an underlying primary tauopathy, including Parkinsonian syndrome, late-onset cerebellar ataxia, primary lateral sclerosis, semantic variant PPA (svPPA), and amnestic syndrome. Here, we discuss clinical syndromes associated with various primary tauopathies and their distinguishing clinical features and new biomarkers becoming available to improve in vivo diagnosis. Although the typical phenotypic clinical presentations lead us to suspect specific underlying pathologies, it is still challenging to differentiate pathology accurately based on clinical findings due to large phenotypic overlaps. Larger pathology-confirmed studies to validate the use of different biomarkers and prospective longitudinal cohorts evaluating detailed clinical, biofluid, and imaging protocols in subjects presenting with heterogenous phenotypes reflecting a variety of suspected underlying pathologies are fundamental for a better understanding of the clinicopathological correlations.https://www.frontiersin.org/articles/10.3389/fneur.2022.944806/fulltauopathymovementclinicalprogressive supranuclear palsycorticobasalneurodegenerative |
| spellingShingle | Nahid Olfati Nahid Olfati Ali Shoeibi Irene Litvan Clinical Spectrum of Tauopathies Frontiers in Neurology tauopathy movement clinical progressive supranuclear palsy corticobasal neurodegenerative |
| title | Clinical Spectrum of Tauopathies |
| title_full | Clinical Spectrum of Tauopathies |
| title_fullStr | Clinical Spectrum of Tauopathies |
| title_full_unstemmed | Clinical Spectrum of Tauopathies |
| title_short | Clinical Spectrum of Tauopathies |
| title_sort | clinical spectrum of tauopathies |
| topic | tauopathy movement clinical progressive supranuclear palsy corticobasal neurodegenerative |
| url | https://www.frontiersin.org/articles/10.3389/fneur.2022.944806/full |
| work_keys_str_mv | AT nahidolfati clinicalspectrumoftauopathies AT nahidolfati clinicalspectrumoftauopathies AT alishoeibi clinicalspectrumoftauopathies AT irenelitvan clinicalspectrumoftauopathies |