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Implantation of Osmotic Pumps and Induction of Stress to Establish a Symptomatic, Pharmacological Mouse Model for DYT/PARK-ATP1A3 Dystonia
Published on: September 12, 2020
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Cerebellar Involvement in DYT-THAP1 Dystonia.
Petyo Nikolov1,2, Shady S Hassan2,3, Aykut Aytulun1
1Department of Neurology, Medical Faculty, Heinrich Heine University Düsseldorf, Moorenstraße 5, 40225, Düsseldorf, Germany.
Cerebellum (London, England)
|August 2, 2019
Summary
This study reports the first case of DYT-THAP1 dystonia with cerebellar involvement, investigated using transcranial magnetic stimulation. Findings suggest cerebellar syndrome may be part of the DYT-THAP1 mutation
Area of Science:
- Neuroscience
- Genetics
- Movement Disorders
Background:
- DYT-THAP1 dystonia typically presents with diverse clinical symptoms.
- Cerebellar involvement has not been previously documented in DYT-THAP1 dystonia.
Observation:
- A 51-year-old male DYT-THAP1 mutation carrier with dystonia developed ataxia.
- Transcranial magnetic stimulation (TMS) was used to assess cerebellar function via cerebellar inhibition (CBI).
Findings:
- The patient exhibited a lack of cerebellar inhibition (CBI) on TMS.
- This absence of CBI indicates significant cerebellar dysfunction.
Implications:
- Cerebellar syndrome may be a potential clinical manifestation of DYT-THAP1 mutations.
- This case expands the known phenotypical spectrum of DYT-THAP1-related disorders.
- Highlights the utility of TMS in diagnosing and understanding complex neurological conditions.
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