Investigation on Huntington's disease

Abstract

The possible biochemical basis underlying the aetiology and pathogenesis of Huntington's disease (H.D.) is discussed. The development of a predictive test for presymptomatic detection of the disorder, based on measurement of serum caeruloplasmin and serum dopamine β‐hydroxylase (DBH) is also described. Possible means of appraising the proposed test are suggested.

Ceruloplasmin: The Copper Transport Protein With Essential Oxidase Activity

“…Most recently Shokeir (140) has reported reduced C p levels in patients with Huntington's disease. This has long been suspected, since many of the early symptoms of Huntington's chorea resemble those of another genetic disorder, Wilson's disease.…”

Deregulated Transcriptome as a Platform for Adrenal Huntington’s Disease-Related Pathology

“…The DBH protein converts the catecholamine dopamine to norepinephrine [37]. A growing body of evidence indicates that the expression of human DBH is enhanced in the plasma of patients with HD compared to healthy controls [38][39][40]. A study by Garrett and Soares-da-Silva [41] analyzing cerebrospinal fluid showed higher dopamine concentrations in HD patients than in healthy subjects.…”