Diagnostic accuracy of progressive supranuclear palsy in the Society for Progressive Supranuclear Palsy Brain Bank
Identifieur interne : 004129 ( Main/Exploration ); précédent : 004128; suivant : 004130Diagnostic accuracy of progressive supranuclear palsy in the Society for Progressive Supranuclear Palsy Brain Bank
Auteurs : Keith A. Josephs [États-Unis] ; Dennis W. Dickson [États-Unis]Source :
- Movement Disorders [ 0885-3185 ] ; 2003-09.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Homme.
English descriptors
- KwdEn :
- APOE4, Aged, Apolipoprotein E, Data Collection, Diagnostic Errors (statistics & numerical data), Differential diagnostic, False Positive Reactions, Female, Genotype, H1 haplotype, Haplotype, Human, Humans, Male, Medical Records (statistics & numerical data), PSP, Societies, Medical, Supranuclear Palsy, Progressive (diagnosis), Supranuclear Palsy, Progressive (genetics), Supranuclear Palsy, Progressive (pathology), Supranuclear ophthalmoplegia, Tau protein, Tissue Banks, VSO, tremor.
- MESH :
- diagnosis : Supranuclear Palsy, Progressive.
- genetics : Supranuclear Palsy, Progressive.
- pathology : Supranuclear Palsy, Progressive.
- statistics & numerical data : Diagnostic Errors, Medical Records.
- Aged, Data Collection, False Positive Reactions, Female, Humans, Male, Societies, Medical, Tissue Banks.
Abstract
Diagnostic accuracy has been addressed previously for Parkinson's disease in a brain bank collection, but accuracy of progressive supranuclear palsy (PSP) has not been addressed in a similar setting. Clinical and genetic features of pathologically confirmed cases of PSP were compared with misdiagnosed cases to determine ways to improve diagnostic accuracy. Medical records were reviewed for 180 cases sent to the Society of Progressive Supranuclear Palsy Brain Bank that had standardized neuropathologic evaluations as well as determination of apolipoprotein E and tau genotypes. Of the 180 cases studied, 137 had PSP and 43 had other pathologic diagnoses. Corticobasal degeneration (CBD), multiple system atrophy (MSA), and diffuse Lewy body disease (DLBD) accounted for 70% of the misdiagnosed cases. History of tremor, psychosis, dementia, and asymmetric findings were more frequent in misdiagnosed cases. The frequency of H1 tau haplotype (93 vs. 80%) and H1H1 genotype (86 vs. 66%) were significantly greater and APOE ϵ4 carrier state was significantly less (17 vs. 41 %) in PSP compared with misdiagnosed cases. Pathologic evaluation of clinically diagnosed PSP remains important for definitive diagnosis, and CBD, MSA, and DLBD are the disorders most likely to be misdiagnosed as PSP. Tremor, psychosis, early dementia, asymmetric findings, absence of H1 haplotype, and presence of APOE ϵ4 should raise questions about a diagnosis of PSP. © 2003 Movement Disorder Society
Url:
DOI: 10.1002/mds.10488
Affiliations:
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Le document en format XML
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<term>Differential diagnostic</term>
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<front><div type="abstract" xml:lang="en">Diagnostic accuracy has been addressed previously for Parkinson's disease in a brain bank collection, but accuracy of progressive supranuclear palsy (PSP) has not been addressed in a similar setting. Clinical and genetic features of pathologically confirmed cases of PSP were compared with misdiagnosed cases to determine ways to improve diagnostic accuracy. Medical records were reviewed for 180 cases sent to the Society of Progressive Supranuclear Palsy Brain Bank that had standardized neuropathologic evaluations as well as determination of apolipoprotein E and tau genotypes. Of the 180 cases studied, 137 had PSP and 43 had other pathologic diagnoses. Corticobasal degeneration (CBD), multiple system atrophy (MSA), and diffuse Lewy body disease (DLBD) accounted for 70% of the misdiagnosed cases. History of tremor, psychosis, dementia, and asymmetric findings were more frequent in misdiagnosed cases. The frequency of H1 tau haplotype (93 vs. 80%) and H1H1 genotype (86 vs. 66%) were significantly greater and APOE ϵ4 carrier state was significantly less (17 vs. 41 %) in PSP compared with misdiagnosed cases. Pathologic evaluation of clinically diagnosed PSP remains important for definitive diagnosis, and CBD, MSA, and DLBD are the disorders most likely to be misdiagnosed as PSP. Tremor, psychosis, early dementia, asymmetric findings, absence of H1 haplotype, and presence of APOE ϵ4 should raise questions about a diagnosis of PSP. © 2003 Movement Disorder Society</div>
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