title: High metabolic level in patients with familial amyotrophic lateral sclerosis.
abstract: An abnormally elevated level of resting energy expenditure (REE, measured by indirect calorimetry) has been reported in a subset of patients with sporadic amyotrophic lateral sclerosis (SALS). Hypermetabolism (measured REE/calculated REE (cREE)> or =1.1, or 110%) has also been observed in transgenic mice harbouring ALS-causing mutations in the SOD1 gene. By contrast, the REE of patients with familial amyotrophic lateral sclerosis (FALS) has never been assessed. Our objective was to evaluate the metabolic and nutritional parameters of FALS patients and to compare them with those of SALS patients, and search for correlations with clinical parameters. Eleven patients with FALS (from 10 different families, none carrying a SOD1 mutation) were evaluated by indirect calorimetry in our centre. As a control group, we used a sample of 33 patients with SALS, matched for age and sex with the FALS patients. 11/11 (100%) patients with FALS were hypermetabolic, compared to 17/33 (52%) patients with SALS (p=0.009). Measured REE (mREE) and mREE/cREE (metabolic level) were significantly higher in FALS patients than in SALS patients (p=0.03 and p=0.0008, respectively). No correlation was found between metabolic measures and neurological or respiratory parameters. In conclusion, hypermetabolism appears to be a common feature of subjects with FALS, suggesting that this impairment of energy homeostasis may be genetically driven. The high metabolic level of FALS patients should be taken into account for their nutritional management (need for a high-energy diet to prevent malnutrition).
authors.affiliation: Department of Neurology and ALS Regional Centre, Hôpital Universitaire Dupuytren, 2 av. Martin-Luther-King, Limoges Cedex, France. benoit.funalot@gmail.com
authors.forename: Benoit
authors.initials: B
authors.lastname: Funalot
authors.forename: Jean-Claude
authors.initials: JC
authors.lastname: Desport
authors.forename: Franck
authors.initials: F
authors.lastname: Sturtz
authors.forename: William
authors.initials: W
authors.lastname: Camu
authors.forename: Philippe
authors.initials: P
authors.lastname: Couratier
mesh_terms: D000368:Aged; D000690:Amyotrophic Lateral Sclerosis / Q000178:diet therapy / Q000235:genetics* / Q000378:metabolism*; D002153:Calorimetry, Indirect; D002149:Energy Intake; D004734:Energy Metabolism / Q000235:genetics*; D005192:Family Health; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008875:Middle Aged; D015596:Nutrition Assessment; D010375:Pedigree; D013482:Superoxide Dismutase / Q000235:genetics; D000072105:Superoxide Dismutase-1
chemical_list: C000606290:SOD1 protein, human; C000606291:Sod1 protein, mouse; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1