Folate-responsive neuropathy: report of 10 cases

Area of Science:

• Neurology
• Nutritional Neuroscience

Background:

• Subacute combined degeneration of the spinal cord is typically associated with vitamin B12 deficiency.
• Neurological symptoms can arise from various nutritional deficiencies, impacting nervous system integrity.

Purpose of the Study:

• To investigate the etiology of severe neurological disease presenting similarly to subacute combined degeneration but with normal vitamin B12 levels.
• To determine the efficacy of folate treatment in patients with unexplained neurological deterioration.

Main Methods:

• Clinical assessment of ten patients with severe neurological disease.
• Measurement of serum vitamin B12 levels.
• Diagnosis of folate deficiency.
• Administration of specific folate treatment and monitoring of neurological recovery.

Main Results:

• All ten patients presented with neurological disease indistinguishable from subacute combined degeneration.
• Serum vitamin B12 levels were normal in all affected patients.
• Folate deficiency was identified in all patients.
• Specific folate treatment resulted in significant reversal of neurological symptoms.

Conclusions:

• Folate deficiency can cause severe neurological disease mimicking vitamin B12 deficiency.
• These findings challenge traditional views on the exclusive role of vitamin B12 in spinal cord degeneration.
• Folic acid plays a critical role in maintaining the health and integrity of the nervous system.