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NEUROLOGY 2005;64:731-733
© 2005 American Academy of Neurology
Brief Communications

Young onset limb spasticity with PSP-like brain and spinal cord NFT-tau pathology

S. Papapetropoulos, MD, T. Scaravilli, MD, H. Morris, PhD, S. F. An, MD, PhD, D. C. Henderson, MRCPath, N. P. Quinn, MD, FRCP, F. Scaravilli, MD, FRCPath and K. P. Bhatia, MD, FRCP

From the Sobell Department of Movement Neuroscience and Movement Disorders (Drs. Papapetropoulos, Scaravilli, and Bhatia) and Department of Molecular Neuroscience (Drs. Morris, An, Henderson, and Scaravilli), Division of Neuropathology (Drs. An, Henderson, Quinn, and Scaravilli), Institute of Neurology, University College London, Queen Square, London, United Kingdom.

Address correspondence and reprint requests to Dr. F. Scaravilli, Department of Molecular Neuroscience, Division of Neuropathology, Institute of Neurology, Queen Square, London WC1N 3 BG, United Kingdom; e-mail: F.Scaravilli{at}ion.ucl.ac.uk

A 30-year-old white man presented with a sporadic form of gradually progressive spastic gait and, later, supranuclear vertical and horizontal gaze palsy, mild cognitive impairment, loss of postural reflexes, and falls. DNA analysis revealed H1/H1 haplotype without tau gene (exons 9 to 13) mutation. Eight years later, postmortem revealed a tauopathy similar to progressive supranuclear palsy. Unusual aspects were early age at onset, neurofibrillary tangle, and tau involvement of the cord.






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