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Clinical and Laboratory Features Predict Phenoconversion from Sporadic Adult-onset Ataxia to Multiple System Atrophy.

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At least one-third of patients with sporadic adult-onset ataxia (SAOA) progress to multiple system atrophy (MSA). Early autonomic symptoms, stridor, and specific imaging findings predict this phenoconversion.

Keywords:
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Area of Science:

  • Neurology
  • Neurodegenerative Diseases

Background:

  • Sporadic adult-onset ataxia (SAOA) can be challenging to differentiate from other neurodegenerative conditions.
  • Multiple system atrophy (MSA) is a progressive neurodegenerative disorder affecting multiple systems.

Purpose of the Study:

  • To identify predictors and the frequency of phenoconversion from SAOA to MSA.
  • To aid in the early diagnosis of MSA in patients initially presenting with ataxia.

Main Methods:

  • Retrospective review of 169 patients with cerebellar ataxia from 1998-2018 at Mayo Clinic, Minnesota.
  • Analysis of clinical features, autonomic testing, and neuroimaging for predictive factors of MSA diagnosis.
  • Comparison of phenoconverters to non-converters within the SAOA cohort.

Main Results:

  • 60 out of 169 patients (35.5%) phenoconverted from SAOA to MSA.
  • Predictive clinical features included early autonomic symptoms, stridor, and dream enactment behavior.
  • Key imaging findings were pontine atrophy and the 'hot cross bun' sign.
  • Phenoconverters exhibited distinct autonomic testing results, including higher supine blood pressure, larger pressure drops, higher autonomic severity scores, and increased anhidrosis.

Conclusions:

  • A significant proportion of SAOA patients phenoconvert to MSA.
  • Clinical, autonomic, and imaging data at initial presentation are valuable for identifying patients at risk for MSA.
  • Early identification can facilitate timely management and treatment strategies for MSA.