Beyond RSWA in prodromal α-synuclein disease: Do periodic limb movements signal potential early dopaminergic dysfunction?
Sasikanth Gorantla, Matteo Cesari, Raffaele Ferri
✦ AI-curated · Sources linked
Case in brief
This report describes two individuals with positive SYNONE skin biopsies for phosphorylated α-synuclein, who presented without REM sleep without atonia (RSWA) but exhibited significantly elevated periodic limb movement indices (PLMI >100) and mild restless legs syndrome. A third patient with a PLMI of 84 tested negative for SYNONE. These findings suggest a potential early indicator of dopaminergic dysfunction.
What made this case unusual
The combination of SYNONE positivity and RSWA negativity in these patients is noteworthy, as such presentations have not been previously reported.
Diagnostic / clinical pearl
Clinicians should consider the possibility of early dopaminergic dysfunction in patients with elevated periodic limb movements, even in the absence of typical REM sleep behavior disorder.
Why it matters
Understanding these atypical presentations may enhance early detection of α-synucleinopathies and inform future diagnostic criteria.