Young onset limb spasticity with PSP-like brain and spinal cord NFT-tau pathology.
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.
Papapetropoulos
S
S
Sobell Department of Movement Neuroscience and Movement Disorders, Institute of Neurology, University College London, Queen Square, London, United Kingdom.
Scaravilli
T
T
Morris
H
H
An
S F
SF
Henderson
D C
DC
Quinn
N P
NP
Scaravilli
F
F
Bhatia
K P
KP
D000328:Adult; D017668:Age of Onset; D000870:Anterior Horn Cells / Q000648:ultrastructure; D001921:Brain / Q000473:pathology*; D002452:Cell Count; D003937:Diagnosis, Differential; D018450:Disease Progression; D017809:Fatal Outcome; D020233:Gait Disorders, Neurologic / Q000209:etiology; D006801:Humans; D008297:Male; D009128:Muscle Spasticity / Q000209:etiology*; D016874:Neurofibrillary Tangles / Q000473:pathology*; D009759:Nystagmus, Pathologic / Q000209:etiology; D012131:Respiratory Insufficiency / Q000209:etiology; D012438:Saccades; D013116:Spinal Cord / Q000473:pathology*; D020531:Subthalamic Nucleus / Q000648:ultrastructure; D013494:Supranuclear Palsy, Progressive / Q000175:diagnosis; D024801:Tauopathies / Q000145:classification / Q000150:complications / Q000175:diagnosis / Q000473:pathology*