Clinical Reasoning: A 38-Year-Old Man With Involuntary Jerk-Like Movements and Ataxia
A 38-year-old male patient with no personal or family history of neurologic disease presented with a 1-year history of chronic, progressive gait instability and predominantly right-sided involuntary jerk-like movements. A brain MRI revealed diffuse cerebellar atrophy on T2 fluid-attenuated inversion recovery and T1-weighted sequences. Laboratory and diagnostic investigations focused on identifying acquired etiologies. This case explores the differential diagnosis of myoclonus-ataxia syndrome, emphasizing its progression and the distinct underlying causes. It also presents a structured approach to a potentially treatable cause of an uncommon neurologic disorder.
Authors
- Diego Ballesteros
- Gabriela García Tascón
- Verónica Kurtz
- Eduardo Knorre
- Anabella Cecilia Gomez (ORCID: https://orcid.org/0009-0002-1293-1649)
- Eliana Garino
- Maria Rita Castellani (ORCID: https://orcid.org/0000-0001-7335-7842)
Institutions
- El Hospital General de Agudos Carlos G. Durand (AR)
- Argentine Water and Sanitation (Argentina) (AR)
- Hospital General de Agudos Dr. TEODORO ALVAREZ (AR)
Publication Details
- Journal
- Neurology
- Published
- 2025-10-23
- DOI
- https://doi.org/10.1212/wnl.0000000000214381
- Primary Topic
- Genetic Neurodegenerative Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00