Gerstmann-Sträussler-Scheinker syndrome (GSS) is a genetic, autosomal dominant prion brain disease that causes ataxia and slow cognitive decline. Herein, we describe a 34-year-old woman (S.C.B.) diagnosed with GSS (variant Pro102Leu). In 2018, she presented with gait instability without falls, early fatigue, and dizziness; after 3 years, urinary incontinence, initial insomnia and rapid-eye movement sleep behavior disorder, writing difficulties, and occasional dysphagia had appeared. S.C.B. was admitted to the Neurorehabilitation Unit due to the progressive worsening of her balance and walking ability [Timed Up and Go (TUG): not evaluated; Berg Balance Scale (BERG): 5/56]. At admission, neurological, neuropsychological, physiotherapeutic, occupational, and speech assessments were performed. She was completely dependent in basic (ADL) and instrumental activities of daily living (iADL) (ADL: 5/6; iADL: 4/8; Barthel Index: 60); furthermore, moderate cognitive decline and depressive symptoms were observed. After 4 weeks of intensive motor-cognitive rehabilitation treatment, an improvement was observed in all the intervention areas, leading to a global gain in autonomy (TUG: 1 min 50 s; BERG: 10/56; Barthel Index: 70). This case report highlights the importance of tailored motor-cognitive rehabilitation and how these interventions can enhance patients' quality of life and their ability to cope with their symptoms. In conclusion, this case contributes to a broader understanding of treatment options that clinicians can propose to patients.
Keywords: Gerstmann–Sträussler–Scheinker syndrome; case report; motor rehabilitation; neuropsychology; occupational therapy; physiotherapy; speech therapy.
© 2026 De Laurenzis, Siri, Bandirali, Lucca, Covaia, Ferrari, Zaffina and Canesi.