Physiologic assessment of autonomic dysfunction in pallidopontonigral degeneration with N279K mutation in the tau gene on chromosome 17

William P. Cheshire, Yoshio Tsuboi, Zbigniew K. Wszolek

Research output: Contribution to journalArticle

15 Scopus citations

Abstract

Autonomic function was investigated in five affected and five at-risk members of a single kinship of pallidopontonigral degeneration (PPND), which is a progressive syndrome of parkinsonism and frontotemporal dementia resulting from a mutation in the N279K tau gene on chromosome 17. Affected subjects reported symptoms including hyperhidrosis, sialorrhea, urinary frequency or incontinence, thermal intolerance, male sexual dysfunction, lacrimation, and dryness of the eyes or mouth. None had orthostatic hypotension. Autonomic testing revealed mild-to-moderate abnormalities in all five affected subjects and minor abnormalities in the three oldest, asymptomatic, at-risk subjects. Findings in affected subjects consisted of preganglionic sudomotor dysfunction in all five, impaired cardiovagal function in three, and reduced or absent pupillary near responses in four. Tests of adrenergic function were normal in all subjects. The degree of autonomic dysfunction correlated significantly with disease duration and with indices of disease severity. In conclusion, there is evidence in PPND of a disturbance in the central autonomic network.

Original languageEnglish (US)
Pages (from-to)71-77
Number of pages7
JournalAutonomic Neuroscience: Basic and Clinical
Volume102
Issue number1-2
DOIs
StatePublished - Nov 29 2002

Keywords

  • Autonomic dysfunction
  • Frontotemporal dementia
  • N279K tau mutation
  • Pallidopontonigral degeneration
  • Parkinsonism
  • Tauopathies

ASJC Scopus subject areas

  • Endocrine and Autonomic Systems
  • Clinical Neurology
  • Cellular and Molecular Neuroscience

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