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Journal of Child Neurology
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*Genetics Home Reference - ABCD1 Gene
*Genetics Home Reference - X-linked adrenoleukodystrophy
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Inthrathecal IgA Synthesis in X-Linked Cerebral Adrenoleukodystrophy

G. Christoph Korenke, MD

Department of Paediatrics and Neuropaediatrics

Hansotto Reiber, PhD

Neurochemisches Labor, Department of Neurology, University of Göttingen, Germany

Donald H. Hunneman, PhD

Department of Paediatrics and Neuropaediatrics

Folker Hanefeld, MD

Department of Paediatrics and Neuropaediatrics

Cerebrospinal fluid data of 25 patients suffering from various phenotypes of X-linked adrenoleukodystrophy have been evaluated neurochemically including cerebrospinal fluid/serum quotient diagrams. Intrathecal IgA production in 13 of 14 patients with cerebral adrenoleukodystrophy was the most sensitive parameter in cerebrospinal fluid and was not seen in any of the neurologically asymptomatic patients or in the patients with adrenomyeloneuropathy. A blood-cerebrospinal fluid barrier dysfunction was found in 9 of these 14 patients. Additional intrathecal IgG or IgM synthesis was observed in 3 patients each. In 1 patient with lumbar punctures before and after onset of neurologic symptoms intrathecal IgA synthesis was seen only after the appearance of neurologic symptoms. Repetition of lumbar punctures in 5 neurologically symptomatic patients with cerebral adrenoleukodystrophy revealed a similar pattern of intrathecal IgA synthesis with a tendency to decreasing IgA concentration. The pathophysiologic aspects of intrathecal IgA synthesis are discussed in relation to other demyelinating and inflammatory neurologic diseases. (J Child Neurol 1997;12:314-320).

Journal of Child Neurology, Vol. 12, No. 5, 314-320 (1997)
DOI: 10.1177/088307389701200505


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