Genetic diagnostics of rare neurological diseases in adults

This doctoral project is on unusual neurological movement disorders, especially those with presenting with hereditary cerebellar ataxia in adulthood. The goal is to include and systematically examine patients who are affected unusual movement disorders throughout Scania and at the same time include them in the new national quality register RaraSwed.
The Clinical Neurogenetics research group at Lund University / Skåne University Hospital has previously had one cohort of approximately 90 patients with various forms of ataxia disease. In addition to creating a larger patient series, this project focuses on patients with hereditary cerebellar ataxia combined with polyneuropathy. We describe the genetics and phenotype of spinocerebellar ataxia type 4, SCA4, for which we recently identified the genetic cause.
We collect nationwide data on persons with Friedreich ataxia, a relatively common form of ataxia. Present registration systems in health care in Sweden do not easily allow to identify individuals with this diagnosis in the country. Omaveloxolone was recently approved for the treatment of Friedreich's Ataxia by the EMEA, why it is important to identify patients in Sweden.
We also describe a new phenotype of the disease Neuronal Ceroid Lipofuscinosis type 7 (CLN7); previous descriptions focused on a very severe infantile form (children with severe neurological symptoms) or on a very mild form in adults with only opthalmological symptoms. We have recently identified an intermediate phenotype that causes ataxia in young adults and have also seen that adults with long-standing mild opthalmological symtoms may develop mild ataxia.