Abstract

<strong>Background:</strong> We report a patient, diagnosed with late cortical cerebellar atrophy, who had persistent low serum copper levels. <strong>Case report:</strong> A 48-year-old male developed progressive difficulty with balance, frequent falls, and dysarthric speech, which worsened over a short time span. He had an extensive ataxia work-up, which was unremarkable except for persistent low serum copper levels despite adequate supplementation. Magnetic resonance imaging of the brain showed marked cerebellar atrophy. The patient experienced progressive worsening of symptoms, which did not improve with either oral or parenteral copper supplementation. <strong>Discussion:</strong> To our knowledge, ours is the first case report of late cortical cerebellar atrophy in the setting of low serum copper levels. The current report should trigger further research in mechanisms leading to copper deficiency and its possible role in cerebellar disease.

Highlights

  • Late cortical cerebellar atrophy (LCCA) is a type of non-hereditary spinocerebellar degeneration; the first autopsy case of LCCA was reported by Archambault in 1918.1 Marie et al.[2] established a foundation for the concept for LCCA by investigating four patients in 1922

  • Compromised copper transport in the human brain may manifest as severe and well-characterized neurodegenerative disorders, including Menkes disease and Wilson’s disease. In addition to these disorders, disturbances in the distribution of brain copper levels are associated with other neurodegenerative diseases, including Alzheimer’s disease, amyotrophic lateral sclerosis (ALS), Parkinson’s disease, Huntington’s disease, and prion diseases.[6,7,8]

  • We report on a 48-year-old right-handed male who initially presented with worsening gait and balance

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Summary

Case Reports

Shivam Om Mittal1* & Duarte G. Machado[2 1] Department of Neurology, Case Western Reserve University School of Medicine, Cleveland, OH, USA, 2 Department of Neurology, Yale University School of Medicine, New Haven, CT, USA

Introduction
Case report
Discussion
Findings
Data Points Over Three Years
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