Are Gait Stereotypies a Marker for Neurodegeneration in Down Syndrome? A Prospective Observation.

Abstract

Down syndrome (DS) is the most common genetic cause of intellectual disability. Besides systemic involvement, patients with DS may present with a wide range of neurological manifestations, which include dementia resembling Alzheimer’s disease, seizures, vascular disease and stroke, psychiatric comorbidities, and movement disorders.1–3 Abnormal movements in DS are diverse, and the clinical relevance of these neurological manifestations is misunderstood.4 In this article, we report a patient with DS that presented with movement disorders characterized by gait stereotypies as the first neurological manifestation, evolving to a severe neurodegenerative process and dementia in the following 3 years. We try to demonstrate on the basis of a single report that early movement disorders, particularly stereotypies and gait abnormalities, may predict neurodegeneration and dementia in DS.