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.

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Publication Details

Journal
Neurology
Published
2025-10-23
DOI
https://doi.org/10.1212/wnl.0000000000214381
Primary Topic
Genetic Neurodegenerative Diseases
Type
article
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article

Clinical Reasoning: A 38-Year-Old Man With Involuntary Jerk-Like Movements and Ataxia

Diego Ballesteros, Gabriela García Tascón, Verónica Kurtz, Eduardo Knorre et al.
Neurology
Genetic Neurodegenerative Diseases
article

Clinical Reasoning: A 38-Year-Old Man With Involuntary Jerk-Like Movements and Ataxia

Diego Ballesteros, Gabriela García Tascón, Verónica Kurtz, Eduardo Knorre, Anabella Cecilia Gomez, Eliana Garino, Maria Rita Castellani
article en

Abstract

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.

NeurologyVol. 105(10)
El Hospital General de Agudos Carlos G. Durand (AR), Argentine Water and Sanitation (Argentina) (AR), Hospital General de Agudos Dr. TEODORO ALVAREZ (AR)
Openalex Percentile: Top 67%
Genetic Neurodegenerative Diseases
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