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Quantitative Autonomic Testing
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Predicting phenoconversion in pure autonomic failure.

Elizabeth A Coon1, Jay N Mandrekar1, Sarah E Berini1

  • 1From the Departments of Neurology (E.A.C., S.E.B., E.E.B., P.S., P.A.L., W.G.) and Biostatistics (J.N.M.), Mayo Clinic, Rochester, MN.

Neurology
|June 18, 2020
PubMed
Summary
This summary is machine-generated.

Pure autonomic failure (PAF) can progress to synucleinopathies like MSA, PD, or DLB in 24% of patients. Specific symptoms at presentation, such as bladder issues or motor signs, predict this phenoconversion risk.

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Area of Science:

  • Neurology
  • Autonomic Neuroscience
  • Neurodegenerative Diseases

Background:

  • Pure autonomic failure (PAF) is a synucleinopathy characterized by autonomic dysfunction.
  • Understanding phenoconversion from PAF to specific synucleinopathies is crucial for early diagnosis and management.

Purpose of the Study:

  • To identify predictors and the frequency of phenoconversion from PAF to multiple system atrophy (MSA), Parkinson disease (PD), or dementia with Lewy bodies (DLB).

Main Methods:

  • Retrospective review of 275 PAF patients from 2001-2011 at Mayo Clinic.
  • Clinical follow-up and telephone calls assessed for synucleinopathy development.
  • Logistic regression analyzed predictive factors for phenoconversion.

Main Results:

  • 24% (67/275) of PAF patients phenoconverted to MSA, PD, or DLB.
  • Younger age at onset and severe bladder symptoms predicted MSA.
  • Subtle motor signs and dream enactment behavior predicted both MSA and PD/DLB.
  • Higher supine norepinephrine levels and anhidrosis predicted MSA.

Conclusions:

  • A significant proportion of PAF patients develop synucleinopathies.
  • Specific clinical and laboratory features at presentation can predict phenoconversion to MSA versus PD/DLB.
  • Class II evidence supports subtle motor signs, bladder symptoms, and dream enactment behavior as risk factors.