Objective: Gerstmann-Sträussler-Scheinker disease (GSS) is a type of human transmissible spongiform encephalopathy that is determined genetically.

Background: Gerstmann-Sträussler-Scheinker disease (GSS) is a type of human transmissible spongiform encephalopathy that is determined genetically. A variety of symptoms including ataxia and cognitive decline developed but abnormal involuntary movements were rare. We report a woman with GSS showing prominent dystonia.

Method: A 45-year-old woman was admitted for slowly progressive ataxic gait and dysarthria for 5 years. Cognitive decline developed one year prior to admission and gradually aggravated. In family history, her mother had similar clinical features and expired at her fifth decade. Gene study for spinocerebellar ataxia was negative. On examination, she had severe dysarthria to the point that most of words were not understandable. However, she could comprehend and obey simple command. She could not stand alone without assistance. She also had hearing difficulty. Finger-to-nose test showed severe ataxia along with prominent dystonic contraction in her both arms which was decreased in rest state. Areflexia was noticed in lower limbs.

Results: . MRI showed severe cerebellar atrophy but not cortical high signal intensity in DWI. PRNP analysis revealed a mutation in codon 102 proline to leucine (P102L). 129 codon showed methionine homozygote.

Conclusion: Abnormal involuntary movements are not common in GSS. We report a woman with GSS showing prominent dystonia. The presence of prominent dystonia should not rule out the diagnosis of GSS.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/gerstmann-straussler-scheinker-disease-presenting-as-dystonia/