6 results match your criteria: "Department of Neurology St. Vincent's University Hospital Dublin Ireland.[Affiliation]"
Background: Anxiety and depression are highly prevalent conditions in cervical dystonia and considered intrinsic to the disease mechanism. Psychiatric symptoms do not appear to be influenced by botulinum toxin therapy. Studies focusing on changes in mood disorder during the course of the disease are limited in this chronic, lifelong disorder.
View Article and Find Full Text PDFBackground: The high prevalence of mood disorders in cervical dystonia, often unaddressed in botulinum toxin clinics, is a major factor in impaired quality of life. There is a clear need for a brief screening method for identifying these disorders; the Dystonia non-motor symptoms questionnaire (DNMSQuest) has been proposed as such.
Objective: We aimed to assess the practical utility of the DNMSQuest and compare it with validated rating scales for anxiety, depression and quality of life.
Background: Mutations in the STIP1 homology and U-box containing protein 1 gene were first described in 2013 and lead to disorders with symptoms including ataxia and dysarthria, such as spinocerebellar autosomal-recessive ataxia type 16 (SCAR16), Gordon-Holmes syndrome, and spinocerebellar ataxia type 48. There have been 15 families described to date with SCAR16.
Cases: We describe a 45-year-old right-handed woman with dysarthria, ataxia, and cervical dystonia with SCAR16 with 2 compound heterozygous variants in the STIP1 homology and U-box containing protein 1 gene, and a family history significant for her 47-year-old sister with dysarthria and cognitive problems.