Pathogenesis and diagnostics of ataxia-dystonia and Development Coordination Disorder

In this research project we aim to identify the underlying mechanisms leading to comorbid ataxia-dystonia phenotypes, through anatomical, biological and genetic analyses. We hope that the findings of our research will contribute to a better and more oriented diagnostic approach in patients with mixed ataxia-dystonia phenotypes.

Furthermore, in this project we aim to improve the clinical distinction between two coordination impairments, early-onset ataxia (beginning before 25 years of age, often genetically determined) and Developmental Coordination Disorder (motor impairments with an unclear etiology). These two forms of pediatric coordination impairments are phenotypically similar and therefore difficult to differentiate on a clinical basis. This has consequences for the treatment and prognosis of the patients, seen as these two disorders require a different clinical approach. Our aim is to improve the distinction between early-onset ataxia and Developmental Coordination Disorder, by investigating the underlying pathogenesis of these two distinct disorders and by developing a clinical diagnostic algorithm for better recognition of the two.

Involved researchers:

Martinica Garofalo