Motor neuron disease associated with copper deficiency.

Area of Science:

• Neurology
• Nutritional Neuroscience

Background:

• Copper deficiency is a rare cause of myeloneuropathy.
• It typically presents as spastic ataxia, hyperreflexia, and distal sensory loss, mimicking subacute combined degeneration.
• However, the clinical spectrum may be broader.

Observation:

• Three patients with copper deficiency were observed.
• Two patients were initially diagnosed with amyotrophic lateral sclerosis.
• Patients exhibited progressive weakness and denervation, suggesting lower motor neuron disease.

Findings:

• Copper replacement therapy led to stabilization or mild improvement in muscle weakness.
• The study expands the clinical spectrum of copper deficiency.

Implications:

• Human copper deficiency should be considered in cases of lower motor neuron disease.
• This expands the differential diagnosis beyond spastic ataxia syndromes.