Clinical and pathologic evidence of corticobasal degeneration and progressive supranuclear palsy in familial tauopathy.
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.


METHODS
A report of the clinical and pathological features in a familial tauopathy.


METHODS
University of Minnesota. Patients We evaluated 2 siblings and clinically assessed 20 additional family members.


METHODS
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.
Tuite
Paul J
PJ
Department of Neurology, University of Minnesota, MN 55455, USA. tuite002@umn.edu
Clark
H Brent
HB
Bergeron
Catherine
C
Bower
Matthew
M
St George-Hyslop
Peter
P
Mateva
Vesselina
V
Anderson
John
J
Knopman
David S
DS
D001480:Basal Ganglia Diseases / Q000473:pathology*; D002540:Cerebral Cortex / Q000473:pathology*; D005192:Family Health; D005260:Female; D006801:Humans; D007150:Immunohistochemistry / Q000379:methods; D008297:Male; D008875:Middle Aged; D016900:Neurofilament Proteins / Q000378:metabolism; D013494:Supranuclear Palsy, Progressive / Q000473:pathology*; D024801:Tauopathies / Q000235:genetics / Q000503:physiopathology*; D016875:tau Proteins / Q000378:metabolism*
D016900:Neurofilament Proteins; D016875:tau Proteins