title: A Metabolic Study of Huntington's Disease.
abstract: BACKGROUND
  Huntington's disease patients have a number of peripheral manifestations suggestive of metabolic and endocrine abnormalities. We, therefore, investigated a number of metabolic factors in a 24-hour study of Huntington's disease gene carriers (premanifest and moderate stage II/III) and controls.
  
  
  METHODS
  Control (n = 15), premanifest (n = 14) and stage II/III (n = 13) participants were studied with blood sampling over a 24-hour period. A battery of clinical tests including neurological rating and function scales were performed. Visceral and subcutaneous adipose distribution was measured using magnetic resonance imaging. We quantified fasting baseline concentrations of glucose, insulin, cholesterol, triglycerides, lipoprotein (a), fatty acids, amino acids, lactate and osteokines. Leptin and ghrelin were quantified in fasting samples and after a standardised meal. We assessed glucose, insulin, growth hormone and cortisol concentrations during a prolonged oral glucose tolerance test.
  
  
  RESULTS
  We found no highly significant differences in carbohydrate, protein or lipid metabolism markers between healthy controls, premanifest and stage II/III Huntington's disease subjects. For some markers (osteoprotegerin, tyrosine, lysine, phenylalanine and arginine) there is a suggestion (p values between 0.02 and 0.05) that levels are higher in patients with premanifest HD, but not moderate HD. However, given the large number of statistical tests performed interpretation of these findings must be cautious.
  
  
  CONCLUSIONS
  Contrary to previous studies that showed altered levels of metabolic markers in patients with Huntington's disease, our study did not demonstrate convincing evidence of abnormalities in any of the markers examined. Our analyses were restricted to Huntington's disease patients not taking neuroleptics, anti-depressants or other medication affecting metabolic pathways. Even with the modest sample sizes studied, the lack of highly significant results, despite many being tested, suggests that the majority of these markers do not differ markedly by disease status.
authors.affiliation: Department of Clinical Neurosciences, UCL Institute of Neurology, London, United Kingdom.
authors.forename: Rajasree
authors.initials: R
authors.lastname: Nambron
authors.affiliation: Brain Disease Biomarker Unit, Department of Experimental Medical Science, Wallenberg Neuroscience Centre, Lund University, Lund, Sweden.
authors.forename: Edina
authors.initials: E
authors.lastname: Silajdžić
authors.affiliation: Department of Clinical Neurosciences, UCL Institute of Neurology, London, United Kingdom.
authors.forename: Eirini
authors.initials: E
authors.lastname: Kalliolia
authors.affiliation: APHP, Department of Metabolic Biochemistry, Necker Hospital, Paris, France.
authors.forename: Chris
authors.initials: C
authors.lastname: Ottolenghi
authors.affiliation: Developmental Endocrinology Research Group, UCL Institute of Child Health, London, United Kingdom.
authors.forename: Peter
authors.initials: P
authors.lastname: Hindmarsh
authors.affiliation: Nuffield Department of Primary Care Health Sciences, University of Oxford, Oxford, United Kingdom.
authors.forename: Nathan R
authors.initials: NR
authors.lastname: Hill
authors.affiliation: Department of Clinical Biochemistry, Royal Free London NHS Foundation Trust, London, United Kingdom.
authors.forename: Seán J
authors.initials: SJ
authors.lastname: Costelloe
authors.affiliation: Department of Clinical Biochemistry, Royal Free London NHS Foundation Trust, London, United Kingdom.
authors.forename: Nicholas G
authors.initials: NG
authors.lastname: Martin
authors.affiliation: Fondazione CNR-Regione Toscana G. Monasterio, Pisa, Italy.
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Positano
authors.affiliation: Department of Public Health and Primary Care, Imperial College, London, United Kingdom.
authors.forename: Hilary C
authors.initials: HC
authors.lastname: Watt
authors.affiliation: Department of Medical Statistics, London School of Hygiene and Tropical Medicine, London, United Kingdom.
authors.forename: Chris
authors.initials: C
authors.lastname: Frost
authors.affiliation: Brain Disease Biomarker Unit, Department of Experimental Medical Science, Wallenberg Neuroscience Centre, Lund University, Lund, Sweden.
authors.forename: Maria
authors.initials: M
authors.lastname: Björkqvist
authors.affiliation: Department of Clinical Neurosciences, UCL Institute of Neurology, London, United Kingdom.|Reta Lila Weston Institute of Neurological Studies, UCL Institute of Neurology, London, United Kingdom.
authors.forename: Thomas T
authors.initials: TT
authors.lastname: Warner
mesh_terms: D000328:Adult; D000368:Aged; D015415:Biomarkers / Q000097:blood; D001786:Blood Glucose; D050260:Carbohydrate Metabolism; D016022:Case-Control Studies; D005260:Female; D054439:Ghrelin / Q000097:blood; D019382:Human Growth Hormone / Q000097:blood; D006801:Humans; D006816:Huntington Disease / Q000097:blood* / Q000473:pathology; D006854:Hydrocortisone / Q000097:blood; D007328:Insulin / Q000097:blood; D020738:Leptin / Q000097:blood; D050356:Lipid Metabolism; D008297:Male; D008875:Middle Aged
chemical_list: D015415:Biomarkers; D001786:Blood Glucose; D054439:Ghrelin; D007328:Insulin; D020738:Leptin; D019382:Human Growth Hormone; D006854:Hydrocortisone