Question

Among the following neurodegenerative disorders, which one has a distinct (potentially curable) treatment?

• A. Pantothenate kinase-associated neurodegeneration (PKAN)
• B. Wilson disease
• C. Progressive multifocal leukoencephalopathy (PML)
• D. PLA2G6-associated neurodegeneration

Hint:

Which disorder is reversible if you remove the accumulating metal early?

Answer 1

The Correct Option is B

Step 1: Frame the question. The stem groups several disorders that share imaging features of brain iron/metal accumulation or white-matter change. Most are progressive and only symptomatically managed, but one has a specific, disease-modifying (potentially curative) therapy.

Step 2: Identify each disorder. PKAN and PLA2G6-associated neurodegeneration belong to the NBIA (neurodegeneration with brain iron accumulation) group - both are genetic, progressive, and have no definitive cure (only symptomatic care, e.g. for dystonia). PML is a JC-virus demyelinating disease of the immunosuppressed; treatment is restoration of immunity, with no specific antiviral cure.

Step 3: Why Wilson disease is distinct. Wilson disease is an autosomal-recessive defect of ATP7B causing copper accumulation in liver and basal ganglia. Unlike the others, it has a definitive treatment - copper chelation (D-penicillamine, trientine), zinc to block intestinal copper absorption, and liver transplant in fulminant cases. Early treatment can halt or reverse neurological and hepatic damage, so it is the “curable” entity.

Step 4: Eliminate the rest. PKAN, PLA2G6 NBIA, and PML lack a copper-style chelation or curative pathway, so none qualifies as having a distinct curative treatment.

Key fact: Among these, Wilson disease is the treatable/curable disorder via copper chelation and zinc therapy.