Huntington's disease (HD) is a hereditary neurodegenerative disorder characterized by cognitive, psychiatric, behavioural and motor disturbances. Although the course of HD is also frequently complicated by unintended weight loss, sleep disturbances and autonomic nervous system dysfunction, the aetiology of these signs and symptoms remains largely unknown. In recent years, many novel findings from both animal and human studies have emerged that indicate considerable hypothalamic, endocrine and metabolic alterations in HD. However, a comprehensive overview of these findings is lacking and their precise clinical significance is far from clear. Therefore, in this review we attempt to put these recent developments in the field into perspective by integrating them with previous findings in a comprehensible manner, and by discussing their clinical relevance, with a special focus on body weight, sleep and autonomic functions in HD, which will also allow for the identification of future lines of research in this area.

Hypothalamic dysfunction and neuroendocrine and metabolic alterations in Huntington's disease: clinical consequences and therapeutic implications.

With the aim of finding methods for detecting carriers, Ottosson in the 1950’s began a mapping of all HC families in Sweden (cf. Ottosson (197 l), Ottosson & Rupp (197 1)). This comprehensive material permits comparison with similar materials from other countries concerning prevalence and mutation rate. Since an unusually large number of affected fathers has been reported in juvenile cases (Jones &Phillips (1970)), the sex of in the Swedish material affected parents has also been recorded.

Huntington's chorea in Sweden.

Concentrations of plasma amino acids in nine patients with Huntington's chorea and nine control patients were studied while diet and drug therapy were controlled. Significantly low values for threonine, alanine, isoleucine, leucine, lysine and histidine were found in the Huntington's chorea patients. However, since different investigators have failed to establish a consistent pattern of abnormality, it is considered that the findings are probably due to non-specific factors.

Plasma amino acid levels in Huntington's chorea.

8Disturbances of amino acid metabolism in clinical syndromes not characterised by a primary amino acidopathy

(1973). Chorea Huntington: Nyare fynd inom klinik, genetik och biokemi. Nordisk Psykiatrisk Tidsskrift: Vol. 27, No. 2, pp. 74-81.

Chorea Huntington: Nyare fynd inom klinik, genetik och biokemi

Attempts to identify a metabolic abnormality in Huntington’s chorea and carrier states have so far been unsuccessful (review see Myrianthopoulus 1966, Ctrrzon 1967, Hornykiewicz 1968). The biochemical correlates of Parkinsonian symptoms have directed interest to the metabolism of biogenic amines, especially dopamine, but no deviation has been demonstrated up till now in choreatics. Screenings for abnormal levels of aminoacids in serum and urine have also been negative on the whole, and it has been concluded that a primary aminoacidopathy in Huntington’s chorea is unlikely (Oliphant, Evans & Forrest 1960, Oepen & Oepen 1964, Oepen & Bickel 1964, Bruyn 1966). However, some investigations report deviations, such as increased excretions in the urine of indole (Forrest 1957) and raised serum level of alanine (Cowie & Seakins 1962). The investigations mentioned do not seem to give much promise for further research into aminoacids in Huntington’s chorea. Howevcr, even i f the studies so far have indicated that gross abnormalities do not exist, they cannot exclude minor quantitative but still relevant deviations. The studies are made on small patient series using rather crude electrophoretic methods and without controls, e.g. of the food factor. In view of the evidence of the role of amines for other basal ganglia symptoms it seems premature to abandon this line of research with all the steps from aminoacids, the precursors, to the final acid metabolites. The present study concerns the serum levels of phcnylalaniiic and tyrosine which are precursors of dopamine and noradrenaline.

Serum levels of phenylalanine and tyrosine in Huntington's chorea.

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Serum levels of phenylalanine and tyrosine in Huntington's chorea.