TY - JOUR
T1 - Clinical and pathologic evidence of corticobasal degeneration and progressive supranuclear palsy in familial tauopathy
AU - Tuite, Paul J.
AU - Clark, H. Brent
AU - Bergeron, Catherine
AU - Bower, Matthew
AU - St George-Hyslop, Peter
AU - Mateva, Vesselina
AU - Anderson, John
AU - Knopman, David S.
N1 - Copyright:
Copyright 2019 Elsevier B.V., All rights reserved.
PY - 2005/9
Y1 - 2005/9
N2 - Background: Corticobasal degeneration (CBD) and progressive supranuclear palsy (PSP) are neurodegenerative tauopathies. Sporadic and familial cases of PSP and CBD have been noted, but both have not been reported in a single family. Objective: To describe the clinical, oculomotor, balance, functional imaging, histopathologic, and genetic studies in a family with CBD and PSP. Design: A report of the clinical and pathological features in a familial tauopathy. Setting: University of Minnesota. Patients: We evaluated 2 siblings and clinically assessed 20 additional family members. Main Outcome Measures: Demonstration of salient features in deceased and living family members. Results: Histopathologically confirmed CBD in one sibling and PSP in another deceased sibling were demonstrated; both had clinical features of corticobasal syndrome. In addition, 3 siblings had probable PSP by clinical criteria. Genetic studies of 4 affected family members demonstrated the H1/H1 haplotype but did not reveal pathogenic tau mutations. The family history revealed consanguinity. Conclusions: This is the first report, to our knowledge, of CBD and PSP in 2 individuals in a single family who presented with corticobasal syndrome and had other affected siblings with clinical PSP. Despite clinical and pathologic heterogeneity, a unifying genetic etiology appears likely in this familial tauopathy.
AB - Background: Corticobasal degeneration (CBD) and progressive supranuclear palsy (PSP) are neurodegenerative tauopathies. Sporadic and familial cases of PSP and CBD have been noted, but both have not been reported in a single family. Objective: To describe the clinical, oculomotor, balance, functional imaging, histopathologic, and genetic studies in a family with CBD and PSP. Design: A report of the clinical and pathological features in a familial tauopathy. Setting: University of Minnesota. Patients: We evaluated 2 siblings and clinically assessed 20 additional family members. Main Outcome Measures: Demonstration of salient features in deceased and living family members. Results: Histopathologically confirmed CBD in one sibling and PSP in another deceased sibling were demonstrated; both had clinical features of corticobasal syndrome. In addition, 3 siblings had probable PSP by clinical criteria. Genetic studies of 4 affected family members demonstrated the H1/H1 haplotype but did not reveal pathogenic tau mutations. The family history revealed consanguinity. Conclusions: This is the first report, to our knowledge, of CBD and PSP in 2 individuals in a single family who presented with corticobasal syndrome and had other affected siblings with clinical PSP. Despite clinical and pathologic heterogeneity, a unifying genetic etiology appears likely in this familial tauopathy.
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U2 - 10.1001/archneur.62.9.1453
DO - 10.1001/archneur.62.9.1453
M3 - Article
C2 - 16157754
AN - SCOPUS:25144500987
SN - 0003-9942
VL - 62
SP - 1453
EP - 1457
JO - Archives of neurology
JF - Archives of neurology
IS - 9
ER -