title: Cerebellar ataxia in progressive supranuclear palsy: An autopsy study of PSP-C.
abstract: Cerebellar ataxia is an exclusion criterion for the clinical diagnosis of progressive supranuclear palsy, but a variant with predominant cerebellar ataxia has been reported. The aims of this study were to estimate the frequency of progressive supranuclear palsy with predominant cerebellar ataxia in an autopsy series from the United States and to compare clinical, pathologic, and genetic differences between progressive supranuclear palsy with and without predominant cerebellar ataxia.
  
  
  
  We selected 100 consecutive patients with pathologically confirmed progressive supranuclear palsy who had been evaluated at the Mayo Clinic (referred to as the Mayo Clinic patient series) from our brain bank database (N = 1085). We next enriched in cases likely to have cerebellar ataxia by searching the remaining 985 cases for (1) an antemortem diagnosis of multiple system atrophy or (2) neuropathologic evidence of prominent degeneration of the cerebellum or cerebellar afferent nuclei. Subsequently, clinical, pathologic, and genetic features were compared between the two groups.
  
  
  
  One patient in the Mayo Clinic patient series (1%) met criteria for progressive supranuclear palsy with predominant cerebellar ataxia and had both cerebellar and mild midbrain atrophy on MRI. Four patients were identified with the targeted search. Four of the five patients were clinically misdiagnosed as multiple system atrophy. The severity of tau-related pathology and cerebellar degeneration were not different between the two groups. No differences were detected in tau genotypes.
  
  
  
  Although our data cannot provide definitive information about how to make an accurate clinical diagnosis, they should serve to raise awareness of progressive supranuclear palsy with predominant cerebellar ataxia in the differential diagnosis of multiple system atrophy. © 2016 Movement Disorder Society.
authors: Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA.
authors: Shunsuke
authors: S
authors: Koga
authors: Department of Neurology (Behavioural Neurology & Movement Disorders), Mayo Clinic, Rochester, Minnesota, USA.
authors: Keith A
authors: KA
authors: Josephs
authors: Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA.
authors: Kotaro
authors: K
authors: Ogaki
authors: Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA.
authors: Catherine
authors: C
authors: Labbé
authors: Department of Neurology, Mayo Clinic, Jacksonville, Florida, USA.
authors: Ryan J
authors: RJ
authors: Uitti
authors: Department of Neurology, Mayo Clinic, Jacksonville, Florida, USA.
authors: Neill
authors: N
authors: Graff-Radford
authors: Department of Neurology, Mayo Clinic, Jacksonville, Florida, USA.
authors: Jay A
authors: JA
authors: van Gerpen
authors: Department of Neurology, Mayo Clinic, Jacksonville, Florida, USA.
authors: William P
authors: WP
authors: Cheshire
authors: Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA.
authors: Naoya
authors: N
authors: Aoki
authors: Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA.
authors: Rosa
authors: R
authors: Rademakers
authors: Department of Neurology, Mayo Clinic, Jacksonville, Florida, USA.
authors: Zbigniew K
authors: ZK
authors: Wszolek
authors: Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA.
authors: Owen A
authors: OA
authors: Ross
authors: Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA.
authors: Dennis W
authors: DW
authors: Dickson
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D001344:Autopsy; D001921:Brain / Q000473:pathology*; D002524:Cerebellar Ataxia / Q000453:epidemiology / Q000473:pathology*; D015897:Comorbidity; D005260:Female; D006801:Humans; D008297:Male; D013494:Supranuclear Palsy, Progressive / Q000453:epidemiology / Q000473:pathology*; D014015:Tissue Banks; D014481:United States / Q000453:epidemiology
keywords: Cerebellar ataxia; MAPT genotype; clinicopathologic study; multiple system atrophy; progressive supranuclear palsy