title: Progressive supranuclear palsy presenting as primary lateral sclerosis but lacking parkinsonism, gaze palsy, aphasia, or dementia.
abstract: We report an autopsy case of progressive supranuclear palsy (PSP) that clinically showed only slowly progressive and symmetric upper motor neuron syndrome over a disease course of 12 years. A female patient initially exhibited dysarthria at the age of 65, followed by gait disturbance and dysphagia. Neurological examination at age 67 disclosed pseudobulbar palsy, spastic gait, hyperreflexia, and presence of bilateral Hoffmann and Babinski signs. However, muscle atrophy, weakness, evidence of denervation on electromyography, vertical gaze palsy, parkinsonism, gait freezing, aphasia, speech apraxia, or dementia was not noted throughout the course. She was clinically diagnosed as having motor neuron disease consistent with so-called primary lateral sclerosis. Pathological examination disclosed histopathological features of PSP, including argyrophilic and tau-positive tufted astrocytes, neurofibrillary tangles, coiled bodies, and thread-like processes in the motor cortex and superior frontal gyrus, and to a lesser degree, in the basal ganglia and brain stem nuclei. In addition, severe fibrillary gliosis was noted in the precentral gyrus and corticospinal tract, being consistent with upper motor neuron syndrome observed in this case. No TAR-DNA binding protein 43-positive lesion, FUS pathology, Bunina body, or Lewy body-like hyaline inclusion was noted in the motor cortex or lower motor neurons. These findings suggest that when tau pathology is prominent in the motor cortex but is minimal in the basal ganglia and brain stem nuclei, a PSP case can lack all classic clinical features of PSP and show only slowly progressive upper motor syndrome, consistent with clinical picture of primary lateral sclerosis.
authors.affiliation: Department of Neurology, National Hospital Organization Minami-Okayama Medical Center, Hayashima, Japan.
authors.forename: Shigeto
authors.initials: S
authors.lastname: Nagao
authors.forename: Osamu
authors.initials: O
authors.lastname: Yokota
authors.forename: Reiko
authors.initials: R
authors.lastname: Nanba
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Takata
authors.forename: Takashi
authors.initials: T
authors.lastname: Haraguchi
authors.forename: Hideki
authors.initials: H
authors.lastname: Ishizu
authors.forename: Chikako
authors.initials: C
authors.lastname: Ikeda
authors.forename: Naoya
authors.initials: N
authors.lastname: Takeda
authors.forename: Etsuko
authors.initials: E
authors.lastname: Oshima
authors.forename: Katsuaki
authors.initials: K
authors.lastname: Sakane
authors.forename: Seishi
authors.initials: S
authors.lastname: Terada
authors.forename: Yuetsu
authors.initials: Y
authors.lastname: Ihara
authors.forename: Yosuke
authors.initials: Y
authors.lastname: Uchitomi
mesh_terms: D000368:Aged; D001253:Astrocytes / Q000648:ultrastructure; D020541:Coiled Bodies / Q000648:ultrastructure; D004268:DNA-Binding Proteins / Q000032:analysis; D003680:Deglutition Disorders / Q000209:etiology; D003937:Diagnosis, Differential; D003951:Diagnostic Errors; D018450:Disease Progression; D004401:Dysarthria / Q000209:etiology; D005260:Female; D005625:Frontal Lobe / Q000473:pathology; D020233:Gait Disorders, Neurologic / Q000209:etiology; D005911:Gliosis / Q000209:etiology / Q000473:pathology; D006801:Humans; D016472:Motor Neuron Disease / Q000175:diagnosis* / Q000209:etiology; D009046:Motor Neurons / Q000648:ultrastructure; D009128:Muscle Spasticity / Q000209:etiology; D016874:Neurofibrillary Tangles / Q000648:ultrastructure; D012021:Reflex, Abnormal; D016622:Silver Staining; D013494:Supranuclear Palsy, Progressive / Q000150:complications / Q000175:diagnosis* / Q000473:pathology / Q000503:physiopathology / Q000523:psychology; D063189:Symptom Assessment; D057177:TDP-43 Proteinopathies / Q000175:diagnosis; D016875:tau Proteins / Q000032:analysis
chemical_list: D004268:DNA-Binding Proteins; C054369:MAPT protein, human; D016875:tau Proteins