Clinical and electrodiagnostic findings in copper deficiency myeloneuropathy

• Published in: Journal of neurology, neurosurgery and psychiatry Vol. 80; no. 5; pp. 524 - 527
• Main Authors: Goodman, B P, Bosch, E P, Ross, M A, Hoffman-Snyder, C, Dodick, D D, Smith, B E
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group Ltd 01.05.2009; BMJ Publishing Group; BMJ Publishing Group LTD
• Subjects: Aged; Aminoacid disorders; Ankle; Ataxia; Biological and medical sciences; Copper - deficiency; Electrodiagnosis; Electromyography; Errors of metabolism; Evoked Potentials, Somatosensory - physiology; Female; Gait Disorders, Neurologic - physiopathology; Gastrointestinal surgery; Humans; Magnetic Resonance Imaging; Male; Medical sciences; Metabolic diseases; Middle Aged; Muscle, Skeletal - physiopathology; Neural Conduction - physiology; Neurologic Examination; Neurology; Patients; Peripheral Nervous System Diseases - diagnosis; Peripheral Nervous System Diseases - pathology; Peripheral Nervous System Diseases - physiopathology; Retrospective Studies; Spinal cord; Spinal Cord Diseases - diagnosis; Spinal Cord Diseases - pathology; Spinal Cord Diseases - physiopathology; Copper; Nervous system diseases; Deficiency
• ISSN: 0022-3050; 1468-330X
• DOI: 10.1136/jnnp.2008.144683

Introduction: Copper deficiency is an increasingly recognised cause of neurological impairment. This retrospective review highlights clinical and electrodiagnostic findings in patients diagnosed at our institution with copper deficiency. Methods: Clinical, radiographic and electrodiagnostic findings were reviewed in patients with evidence of copper deficiency. Patients with other potential causes of myelopathy or neuropathy were excluded. Results: The predominant clinical feature in all six patients was a sensory ataxia, resulting in marked gait unsteadiness. Nerve conduction studies and needle EMG were performed in all patients and revealed a mild to moderate distal, axonal, sensorimotor peripheral neuropathy. Median and tibial somatosensory evoked potentials were abnormal in all five patients in which it was performed, showing impaired conduction in central or proximal peripheral somatosensory pathways. Conclusions: This pattern of electrodiagnostic findings suggests that impairment in somatosensory pathways demonstrated by somatosensory evoked potential testing is the main cause of the sensory ataxia in patients with copper deficiency.