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Neuropediatrics 1999; 30(2): 66-71
DOI: 10.1055/s-2007-973462
Original articles

© Hippokrates Verlag GmbH Stuttgart

Dopamine Receptor Upregulation in Lesch-Nyhan Syndrome: A Postmortem Study

Y. Saito1 , M. Ito1 , S. Hanaoka2 , E. Ohama3 , S. Akaboshi4 , S. Takashima1
  • 1Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Kodaira, Tokyo, Japan,
  • 2Department of Child Neurology, National Hospital for Mental, Nervous and Muscular Disorders, NCNP,
  • 3Division of Neuropathology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University, Yonago,
  • 4Division of Child Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University, Yonago, Japan
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Publication Date:
12 March 2007 (online)

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Abstract

The brains of two patients with Lesch-Nyhan syndrome (LNS) were studied. The concentration of dopamine was decreased in the caudate nucleus of LNS patients. Immunohistochemical methods revealed that the dopamine (DA) D1 and D2 receptor and methionine-enkephalin immunoreactivities (IRs) were increased in the putamen, and less significantly in the caudate nucleus. The D1 and D2 receptor IRs of the cingulate cortex, the tryptophan-hydroxylase IR in the dorsal nucleus of the midbrain, as well as the substance P and methionine-enkephalin IRs of the nociception-conducting structures, including the periaqueductal gray and spinal trigeminal nucleus, were not changed. Tyrosine-hydroxylase IR was not decreased in the substantia nigra of the LNS patients. Therefore, the cause of the decreased dopaminergic activity in LNS may not be involved in the production of tyrosine hydroxylase in the substantia nigra. Developmental abnormalities due to the DA defect at an early age might exist in the postsynaptic structure in the striatum.

Key words

Lesch-Nyhan syndrome - Dopamine receptor supersensitivity - Self-mutilation - Enkephalin