Publications by authors named "C Tarrano"
Developmental variability in paediatric SGCE-related myoclonus dystonia syndrome.
Dev Med Child Neurol
January 2025
Psychiatric symptoms are common in neurodevelopmental movement disorders, including some types of dystonia. However, research has mainly focused on motor manifestations and underlying circuits. Myoclonus-dystonia is a rare and homogeneous neurodevelopmental condition serving as an illustrative paradigm of childhood-onset dystonias, associated with psychiatric symptoms.
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- The study explores myoclonus dystonia caused by a variant in the SGCE gene, focusing on the microarchitectural brain abnormalities linked to this rare condition.
- Researchers compared the brain structures of 18 MYC/DYT-SGCE patients with 24 healthy volunteers using advanced imaging techniques to assess neurite organization.
- Results indicate that patients exhibited changes in cerebellar structure, with specific alterations correlating to the severity of dystonia, while no links were found between myoclonus severity and the microarchitectural measurements.
Article Synopsis
- This study investigates the non-motor aspects of myoclonus dystonia, focusing on the sense of agency, which is how individuals perceive control over their actions, and how disruptions in this sense can affect movement disorders.* -
- The research compared 19 patients with myoclonus dystonia (stemming from a specific genetic variant) to 24 healthy participants, revealing that the patients had a significant impairment in their explicit sense of agency, while their implicit sense remained unaffected.* -
- Neuroimaging analyses showed structural and functional abnormalities in the cerebellum and its connectivity with the pre-supplementary motor area, suggesting these brain regions play a crucial role in the altered sense of agency in patients with my
Background: Monoallelic pathogenic variants of often result in paroxysmal kinesigenic dyskinesia (PKD). Little is known about health-related quality of life (HrQoL), non-motor manifestations, self-esteem, and stigma in patients with PKD.
Objectives: We investigated non-motor symptoms and how they related to HrQoL in a genetically homogeneous group of -PKD patients.