LAUSR

Niemann-Pick type C (NPC) disease is a slowly progressive lysosomal autosomal recessive disorder with variable age of onset. Adult patients usually have a neurological-dominant phenotype with supranuclear gaze palsy, neuropsychiatric manifestations, early-onset dementia and movement disorders. 1 We report on a patient with a typical clinical phenotype, but a missense variant of uncertain signi fi cance (VUS) in the NPC1 gene, which could lead to its reclassi fi cation as likely pathogenic. A 38-year-old female patient presented to our Movement Disorders Clinic due to abnormal involuntary movements that started 2 years ago. She described her fi rst symptom as torsional involuntary trunk and cervical movements with trunk extension. Shortly thereafter, she developed depression, anxiety, compulsive behaviors (repetitive hand washing), memory loss and excessive diurnal somnolence. She lost her functional independence, and eventually developed a multi-domain dementia syndrome. There was no family history of neurological disorders and parents were non-consanguineous.