title: Young onset limb spasticity with PSP-like brain and spinal cord NFT-tau pathology.
abstract: 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.
authors.affiliation: Sobell Department of Movement Neuroscience and Movement Disorders, Institute of Neurology, University College London, Queen Square, London, United Kingdom.
authors.forename: S
authors.initials: S
authors.lastname: Papapetropoulos
authors.forename: T
authors.initials: T
authors.lastname: Scaravilli
authors.forename: H
authors.initials: H
authors.lastname: Morris
authors.forename: S F
authors.initials: SF
authors.lastname: An
authors.forename: D C
authors.initials: DC
authors.lastname: Henderson
authors.forename: N P
authors.initials: NP
authors.lastname: Quinn
authors.forename: F
authors.initials: F
authors.lastname: Scaravilli
authors.forename: K P
authors.initials: KP
authors.lastname: Bhatia
mesh_terms: 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*