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

Y. Saito; M. Ito; S. Hanaoka; E. Ohama; S. Akaboshi; S. Takashima

doi:10.1055/s-2007-973462

Neuropediatrics, Table of Contents

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

Original articles

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

Abstract

PDF Download

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) D₁and 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

PDF (1872 kb)