Neurology
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Editorial Comment
Magnetic resonance imaging in acute stroke: not ready for prime time.
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To demonstrate that measurement of endogenous neopterin levels in unstimulated lymphoblasts identifies inherited GTP cyclohydrolase 1 (GCH1) dysfunction and can be a diagnostic test for dopa-responsive dystonia (DRD). ⋯ Endogenous neopterin measurement in unstimulated lymphoblasts is an accurate tool to identify dysfunctional GCH1 and a potential specific diagnostic marker for dysfunctional GCH1 in DRD and other neurologic disorders. Not all mutations in GCH1 affect GCH1 enzyme activity. PHA induction alone, previously used by others, may result in incorrect identification of GCH1 dysfunction in DRD.