Careful Phenotypic Characterization of Tremor Phenomenology in a Patient with Spinocerebellar Ataxia Type 12-Tremor Features Do Not Match Those of Essential Tremor.

Weili Luo Xiaosheng Zheng Zhiru Lin Wei Luo

Published in: Tremor and other hyperkinetic movements (New York, N.Y.) (2024)

This report characterizes in detail an early-stage SCA12 patient initially misdiagnosed as essential tremor, underscoring the importance of nuanced clinical assessment and genetic testing in atypical tremor cases. Similar patients should be meticulously phenotyped to prevent misclassification and enhance our understanding of tremor pathophysiology.

Keyphrases

deep brain stimulation
parkinson disease
early stage
end stage renal disease
case report
chronic kidney disease
newly diagnosed
squamous cell carcinoma
prognostic factors
patient reported outcomes