Abstract
Progressive Supranuclear Palsy (PSP) has been used to denote a unifying disorder with progressive parkinsonism with early falls, vertical supranuclear gaze palsy, pseudobulbar dysfunction and cognitive decline. Over the last decade, heterogeneity of the disease into different clinical subtypes has been recognized in clinicopathological studies. Although neuroimaging features and laboratory findings may support the diagnosis, true biomarkers are still lacking in the clinical setting. Neuronal and glial tau positive aggregates are predominantly found in basal ganglia and brainstem, and the significant association of PSP with the common H1 tau haplotype likely points to a pathophysiological role of the tau protein in the disease process. Future genetic studies of familial cases and an ongoing genome-wide association study of large series of pathological-proven cases may reveal additional genetic factors in the near future.
Keywords: Progressive supranuclear palsy, review, diagnosis, neuropathology, genetics, Parkinson's disease, MAPT, hallucinations, tremor, dysautonomia, GABAergic cell loss, striatum, cholinergic, dopaminergic cell loss
Current Alzheimer Research
Title: Recent Advances in Progressive Supranuclear Palsy: A Review
Volume: 8 Issue: 3
Author(s): L. D. Kaat, W. Z. Chiu, A. J.W. Boon and J. C. van Swieten
Affiliation:
Keywords: Progressive supranuclear palsy, review, diagnosis, neuropathology, genetics, Parkinson's disease, MAPT, hallucinations, tremor, dysautonomia, GABAergic cell loss, striatum, cholinergic, dopaminergic cell loss
Abstract: Progressive Supranuclear Palsy (PSP) has been used to denote a unifying disorder with progressive parkinsonism with early falls, vertical supranuclear gaze palsy, pseudobulbar dysfunction and cognitive decline. Over the last decade, heterogeneity of the disease into different clinical subtypes has been recognized in clinicopathological studies. Although neuroimaging features and laboratory findings may support the diagnosis, true biomarkers are still lacking in the clinical setting. Neuronal and glial tau positive aggregates are predominantly found in basal ganglia and brainstem, and the significant association of PSP with the common H1 tau haplotype likely points to a pathophysiological role of the tau protein in the disease process. Future genetic studies of familial cases and an ongoing genome-wide association study of large series of pathological-proven cases may reveal additional genetic factors in the near future.
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Cite this article as:
D. Kaat L., Z. Chiu W., J.W. Boon A. and C. van Swieten J., Recent Advances in Progressive Supranuclear Palsy: A Review, Current Alzheimer Research 2011; 8 (3) . https://dx.doi.org/10.2174/156720511795563809
DOI https://dx.doi.org/10.2174/156720511795563809 |
Print ISSN 1567-2050 |
Publisher Name Bentham Science Publisher |
Online ISSN 1875-5828 |
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