title: An autopsy-confirmed case of progressive supranuclear palsy with predominant postural instability.
abstract: Postural instability and supranuclear gaze palsy represent the key symptoms of Richardson's syndrome, the most frequent clinical manifestation of progressive supranuclear palsy (PSP). However, a proportion of PSP patients never develops ocular motor symptoms, which prevents clinicians from establishing the diagnosis during lifetime according to current diagnostic criteria. We present one instructive autopsy-confirmed PSP case with prospective video-documented clinical course, showing striking temporal divergence of initially present postural instability and delayed development of ocular motor dysfunction. Brain imaging and autopsy findings were typical of PSP, but the temporal sequence of symptoms was unusual with isolated postural instability predominating the clinical course for many years and slowing of vertical saccades/supranuclear gaze palsy evolving not until the 9th/11thyear after disease onset. Although other differential diagnoses were unlikely, this patient did not pass the threshold for possible or probable diagnosis of PSP according to current diagnostic criteria until very late in the disease course. This first well documented, autopsy confirmed case of PSP with predominant postural instability further expands the clinical spectrum of PSP and points out the need of new clinical diagnostic criteria with sufficient sensitivity and specificity for an early and reliable diagnosis.
authors.affiliation: Psychiatric Clinic, Psychiatrische Klinik, Ludwigs-Maximilians-Universität München, Nußbaumstr. 7, 80336, Munich, Germany. Carolin.kurz@med.uni-muenchen.de.
authors.forename: Carolin
authors.initials: C
authors.lastname: Kurz
authors.affiliation: Hospital for Movement Disorders and Parkinson's Disease, Straße nach Fichtenwalde 16, 14547, Beelitz-Heilstätten, Germany.
authors.forename: Georg
authors.initials: G
authors.lastname: Ebersbach
authors.affiliation: Department of Neurology, Technische Universität München, Ismaningerstr. 22, 81675, Munich, Germany.|German Center for Neurodegenerative Diseases e.V. (DZNE) Munich, Feodor-Lynen Str. 17, 81377, Munich, Germany.
authors.forename: Gesine
authors.initials: G
authors.lastname: Respondek
authors.affiliation: Center for Neuropathology and Prion Research, Ludwig-Maximilians-University Munich, Feodor-Lynen-Str. 22, 81377, Munich, Germany.
authors.forename: Armin
authors.initials: A
authors.lastname: Giese
authors.affiliation: Psychiatric Clinic, Psychiatrische Klinik, Ludwigs-Maximilians-Universität München, Nußbaumstr. 7, 80336, Munich, Germany.|German Center for Neurodegenerative Diseases e.V. (DZNE) Munich, Feodor-Lynen Str. 17, 81377, Munich, Germany.|Center for Neuropathology and Prion Research, Ludwig-Maximilians-University Munich, Feodor-Lynen-Str. 22, 81377, Munich, Germany.
authors.forename: Thomas
authors.initials: T
authors.lastname: Arzberger
authors.affiliation: Department of Neurology, Technische Universität München, Ismaningerstr. 22, 81675, Munich, Germany.|German Center for Neurodegenerative Diseases e.V. (DZNE) Munich, Feodor-Lynen Str. 17, 81377, Munich, Germany.
authors.forename: Günter Ulrich
authors.initials: GU
authors.lastname: Höglinger
mesh_terms: D000369:Aged, 80 and over; D001344:Autopsy; D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology; D006801:Humans; D008297:Male; D010641:Phenotype; D004856:Postural Balance; D013494:Supranuclear Palsy, Progressive / Q000000981:diagnostic imaging / Q000473:pathology* / Q000503:physiopathology*
keywords: Atypical clinical phenotype; Magnetic resonance tomography; Neuropathology; Postural instability; Progressive supranuclear palsy