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Paul J. Tuite, MD; H. Brent Clark, MD, PhD; Catherine Bergeron, MD; Matthew Bower, MS, CGC; Peter St George-Hyslop, PhD; Vesselina Mateva, MD; John Anderson, MD; David S. Knopman, MD

Arch Neurol. 2005;62:1453-1457.

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.

Author Affiliations: Departments of Neurology (Drs Tuite, Clark, and Mateva), Otolaryngology (Dr Anderson), and Laboratory Medicine and Pathology (Dr Clark) and Institute of Human Genetics (Mr Bower), University of Minnesota, Minneapolis; Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Ontario (Drs Bergeron and St George-Hyslop); and Department of Neurology, Mayo Clinic, Rochester, Minn (Dr Knopman).

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