Coexistence of Progressive Supranuclear Palsy with Pontocerebellar Atrophy and Myotonic Dystrophy Type 1

Shunsuke Koga, J. Eric Ahlskog, Michael A. DeTure, Matt Baker, Shanu F. Roemer, Takuya Konno, Rosa Rademakers, Owen A. Ross, Dennis W. Dickson

Research output: Contribution to journalArticle

Abstract

Progressive supranuclear palsy with predominant cerebellar ataxia (PSP-C) has been reported as a rare clinical subtype, but the underlying pathology of its cerebellar ataxia remains unclear. Here, we report a patient with the coexistence of PSP with pontocerebellar atrophy and myotonic dystrophy type 1 (DM1). A 73-year-old man who was an asymptomatic carrier of DM1 (66 CTG repeats) started developing ataxic gait with multiple falls, visual blurring, double vision, and word finding difficulty at age 62 and was initially diagnosed with multiple system atrophy (MSA). Subsequently, the diagnosis was changed to PSP due to hypometric downward gaze, reduced blink frequency, symmetric bradykinesia, rigidity, and the absence of autonomic dysfunction. He eventually developed delayed grip opening with percussion myotonia at age 72. At autopsy, severe neuronal degeneration and astrogliosis in the pontocerebellar structures suggested MSA, but immunohistochemistry for α-synuclein did not reveal neuronal or glial cytoplasmic inclusions. Immunohistochemistry for phospho-tau and 4-repeat tau confirmed a neuropathological diagnosis of PSP with exceptionally numerous coiled bodies and threads in the pontine base and cerebellar white matter. This unusual distribution of 4-repeat tau pathology and neuronal degeneration with astrogliosis is a plausible clinicopathological substrate of PSP-C.

Original languageEnglish (US)
Pages (from-to)756-762
Number of pages7
JournalJournal of Neuropathology and Experimental Neurology
Volume78
Issue number8
DOIs
StatePublished - 2019

Keywords

  • Inferior olivary hypertrophy
  • Myotonic dystrophy type 1
  • Palatal myoclonus
  • Palatal tremor
  • Pontocerebellar atrophy
  • Progressive supranuclear palsy
  • Progressive supranuclear palsy with predominant cerebellar ataxia (PSP-C)

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Neurology
  • Clinical Neurology
  • Cellular and Molecular Neuroscience

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