Fahr’s disease due to a novel SLC20A2 gene mutation in a Canadian patient: Early Neurocognitive, Structural and Metabolic changes (P2.175)

Objective: To identify the early neurocognitive, structural and metabolic findings of Fahr’s disease caused by a novel mutation in the SCL20A2 gene. Background: Fahr’s disease or Idiopathic Basal Ganglia Calcifications have been recently recognized as linked to autosomal dominant mutations in four causative genes identified so far: SCL20A2, PDGFB, PDGFRB, and XPR1. The clinical phenotype is rich and polymorphous once the disease has established; it encompasses a wide range of features including psychiatric, neurocognitive and motor disorders. However, little is known about the clinical changes occurring at early stages of Fahr’s disease. Design/Methods: We described the clinical phenotype of a young patient affected by Fahr’s disease. The patient underwent a complete neurocognitive evaluation including neuropsychological assessment, structural MRI and functional PET-FDG imaging. We performed Sanger sequencing to identify mutations. Results: A 21-year-old man presented with behavioral changes, cognitive symptoms and headaches over the three previous years. His neuropsychological profile was characterized by attentional and executive dysfunctions (selective attention and organization/planning skills). His basic neurological examination was normal. He also experienced psychiatric features such as irritability, panic attacks and paranoid thoughts. Brain CT revealed calcifications in basal ganglia, thalamus and bifrontal white matter. FDG-PET showed hypometabolism in right caudate, anterior left thalamus and medial lenticular nuclei. Genetic analysis identified a novel heterozygous mutation c.1704 del p.(Ser569Profs*15) in the SLC20A2 gene. Conclusions: We identified a novel de-novo SLC20A2 gene variant. Our case report allows a more accurate characterization of the clinical phenotype of early onset Fahr’s disease associated with SLC20A2 mutations. Disclosure: Dr. Sellami has nothing to disclose. Dr. Verret has nothing to disclose. Dr. Poulin has nothing to disclose. Dr. Laforce has nothing to disclose.