Hypothalamic–pituitary–adrenal axis functioning in Huntington's disease mutation carriers compared with mutation-negative first-degree controls

• Published in: Brain research bulletin Vol. 83; no. 5; pp. 232 - 237
• Main Authors: van Duijn, Erik, Selis, Mischa A, Giltay, Erik J, Zitman, Frans G, Roos, Raymund A.C, van Pelt, Hans, van der Mast, Rose C
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 30.10.2010
• Subjects: Adult; Circadian Rhythm - physiology; Cortisol; Female; Humans; Huntingtin Protein; Huntington Disease - genetics; Huntington Disease - pathology; Huntington Disease - physiopathology; Huntington's disease; Hydrocortisone - secretion; Hypothalamic–pituitary–adrenal axis; Hypothalamo-Hypophyseal System - physiology; Male; Middle Aged; Movement disorder; Mutation; Nerve Tissue Proteins - genetics; Neurodegenerative disease; Neurology; Nuclear Proteins - genetics; Pituitary-Adrenal System - physiology; Saliva; Saliva - chemistry; cortisol awakening response; total functional capacity; body mass index (=kilograms per square meter of height); Hypothalamic–pituitary–adrenal axis; ACTH; Cortisol; interquartile range; adrenocorticotropic hormone; AUC; TFC; analysis of variance; ANOVA; dexamethason suppression test; composite international diagnostic interview; corticotrophin releasing hormone; MMSE; Movement disorder; CSF; diagnostic and statistical manual; Neurodegenerative disease; UHDRS; BMI; DSM; unified Huntington's disease rating scale; DST; hypothalamic–pituitary–adrenal; gamma-aminobutyric acid; area under the curve; IQR; Huntington's disease; CIDI; CAR; cerebrospinal fluid; CRH; GABA; HPA; HD; mini-mental state examination; Saliva
• ISSN: 0361-9230; 1873-2747
• DOI: 10.1016/j.brainresbull.2010.08.006

Abstract Neurodegeneration in Huntington's disease (HD) occurs in various brain regions including the hypothalamus. In this cross-sectional study, hypothalamic–pituitary–adrenal (HPA) axis functioning was studied in 26 presymptomatic and 58 symptomatic HD mutation carriers, and 28 controls. HPA axis functioning was measured through salivary cortisol in the day curve, the cortisol awakening response (CAR), the area under the curve (AUC), the morning rise, and the dexamethasone suppression test (DST). Only the CAR was statistically different between the three groups, being explained by higher cortisol concentrations at 45 and 60 min post-awakening for presymptomatic mutation carriers compared to both symptomatic mutation carriers and controls. No differences were found for the AUC, evening and post-DST cortisol concentrations. Our study indicates a mild disturbance in morning cortisol secretion in HD mutation carriers that precedes the onset of motor symptoms.