Cerebellar ataxia in progressive supranuclear palsy: An autopsy study of PSP-C

Shunsuke Koga, Keith A. Josephs, Kotaro Ogaki, Catherine Labbé, Ryan J. Uitti, Neill Graff-Radford, Jay A. van Gerpen, William P. Cheshire, Naoya Aoki, Rosa Rademakers, Zbigniew K. Wszolek, Owen A. Ross, Dennis W. Dickson

Research output: Contribution to journalArticlepeer-review

38 Scopus citations

Abstract

Background: 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. Method: 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. Results: 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. Conclusion: 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.

Original languageEnglish (US)
Pages (from-to)653-662
Number of pages10
JournalMovement Disorders
Volume31
Issue number5
DOIs
StatePublished - May 1 2016

Keywords

  • Cerebellar ataxia
  • Clinicopathologic study
  • MAPT genotype
  • Multiple system atrophy
  • Progressive supranuclear palsy

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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