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Possible "Premotor" Multiple System Atrophy-Cerebellar Form.

Ryuji Sakakibara1, Jalesh N Panicker2, Yosuke Aiba3

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European Neurology
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PubMed
Summary
This summary is machine-generated.

This case study highlights silent cerebellar hypoperfusion and autonomic disorder in a patient, suggesting early multiple system atrophy-cerebellar (MSA-C) form. Neuroimaging aids in diagnosing this premotor stage of MSA-C.

Keywords:
Magnetic resonance imagingMultiple system atrophyPerfusion single-photon emission computed tomographySacral autonomic disorderUrinary retention

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Area of Science:

  • Neurology
  • Medical Imaging
  • Autonomic Disorders

Background:

  • Multiple system atrophy-cerebellar (MSA-C) is a neurodegenerative disorder typically presenting with ataxia and parkinsonism.
  • Early diagnosis of MSA-C can be challenging due to subtle or absent motor symptoms in the premotor stage.
  • Autonomic dysfunction, particularly urinary retention, can be an early indicator of neurodegenerative diseases.

Observation:

  • A 52-year-old Japanese man presented with urinary retention, a form of sacral autonomic disorder.
  • Neuroimaging revealed silent cerebellar hypoperfusion and mild cerebellar atrophy.
  • Urodynamics and sphincter electromyography showed detrusor hyperactivity with impaired contraction and neurogenic sphincter changes.

Findings:

  • The patient lacked typical cerebellar ataxia or parkinsonism, yet exhibited sacral autonomic disorder and subclinical cerebellar changes.
  • These findings were suggestive of a "premotor" phase of multiple system atrophy-cerebellar (MSA-C) form.
  • The case indicates that autonomic dysfunction can precede motor symptoms in MSA-C.

Implications:

  • Neuroimaging plays a crucial role in identifying "premotor" multiple system atrophy-cerebellar (MSA-C) form.
  • Early detection through neuroimaging and autonomic testing can facilitate timely intervention strategies.
  • This case expands the understanding of the clinical spectrum and diagnostic markers for early-stage MSA-C.