Objective: To highlight clinical improvement in a patient with a parkinsonian presentation of Gerstmann-Sträussler-Scheinker (GSS) syndrome who was treated with trihexyphenidyl.

Background: GSS is a rare, autosomal dominant prion disorder caused by point mutations in the PRNP gene. There is a wide phenotypic spectrum which typically includes ataxia, pyramidal and extrapyramidal signs, and dementia. We present a case of a 46-year-old gentleman from Indiana who presented with debilitating akinetic parkinsonism. He was found to have a heterozygous missense mutation in the PRNP gene (F198S substitution, the so-called Indiana Kindred variant). Parkinsonism and dementia, as well as eye movement abnormalities such as supranuclear gaze palsy are more prevalent in the Indiana Kindred compared to other point mutations. Prior to treatment, the patient had prominent generalized akinesia which limited essential tasks, such as eating and walking. Levodopa and ropinirole caused debilitating nausea. A subsequent trial of trihexyphenidyl resulted in marked improvement in akinesia with return of independence in feeding and ambulation with assistance.

Method: N/A

Results: N/A

Conclusion: To date, there have only been a few reports referencing therapeutic options in GSS disease. This is likely limited by both rarity of this disorder, as well as the wide phenotypic range. Trihexyphenidyl use for GSS has not been previously described in review of the literature. This case illustrates a beneficial symptomatic treatment that can improve quality of life and decrease secondary disease complications due to disabling symptoms. Further awareness of management options could also expand on potential differences in treatment response and PRNP genotype-phenotype correlations.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/trihexyphenidyl-use-in-a-parkinsonian-phenotype-of-gerstman-straussler-scheinker-syndrome/