Background Leigh syndrome (LS) is a progressive neurodegenerative disorder associated with primary or secondary dysfunction of mitochondrial oxidative phosphorylation and is the most common mitochondrial disease in childhood. Numerous reports on the biochemical and molecular profiles of LS have been published, but there are limited studies on genetically confirmed large series. We reviewed the clinical, imaging, biochemical and molecular data of 122 patients with a diagnosis of LS collected in the Italian Collaborative Network of Mitochondrial Diseases database. Results Clinical picture was characterized by early onset of several neurological signs dominated by central nervous system involvement associated with both supra- and sub-tentorial grey matter at MRI in the majority of cases. Extraneurological organ involvement is less frequent in LS than expected for a mitochondrial disorder. Complex I and IV deficiencies were the most common biochemical diagnoses, mostly associated with mutations in SURF1 or mitochondrial-DNA genes encoding complex I subunits. Our data showed SURF1 as the genotype with the most unfavorable prognosis, differently from other cohorts reported to date. Conclusion We report on a large genetically defined LS cohort, adding new data on phenotype-genotype correlation, prognostic factors and possible suggestions to diagnostic workup.

BACKGROUND: The role of lipid-lowering and hypoglycemic nutraceuticals in cardiovascular disease prevention is the focus in recent years. The most studied compounds and plants are sterols, soy, red fermented rice, policosanols, artichoke, berberine. Epidemiological and experimental evidences suggest that dietary polyphenols, especially flavonoids, might play a role in preventing atherosclerosis, owing to their pleiotropic metabolic, anti-inflammatory and antioxidant effects. Recent studies have shown that bergamot juice and albedo (Citrus Bergamia Risso et Poiteau), an endemic plant growing in a limited part of the Ionian coast of Calabria (Italy) has a unique content of flavonoids and glycosides, such as neoeriocytrine, neoesperidine, naringenine, routine, neodesmine, polyphenol and poncirine. OBJECTIVE: The aim of this study was to investigate the effects of a phytocomplex from bergamot fruit (EP3116520A1) as dietary supplement to a Mediterranean diet on body weight, body mass index (BMI), waist circumference, plasmatic lipid fractions, glucose and C – reactive protein (CRP) in subjects with the metabolic syndrome (MetS; according to NCEP-ATP III criteria) without pharmacological treatment, exept for basic treatment. METHODS: 80 overweight adults (54% females, 46% males) with the diagnosis of Metabolic Syndrome (MetS), aged 45 ± 5 years, were enrolled and randomized to 2 groups: group A) followed a personalized low calorie Mediterranean diet (control group) and group B) enriched the same diet therapy with 1 tablet of a phytocomplex from bergamot fruit per day for 6 months (intervention group). RESULTS: After 6 months patients in the intervention group showed a significant reduction of total cholesterol (–15% ), LDL-Cholesterol (–22% ), triglycerides (–23% ), blood glucose (–15% ), CRP (–40% ) and a significant increase in the HDL-Cholesterol (+ 14% ) levels compared to the control group (diet alone) where the changes were not significant, with not much significance in reduced body weight. CONCLUSION: Our findings suggest that bergamot supplementation improves significantly all aspects of metabolic profile in patients with MetS and is superior to diet alone.

Movement disorders are increasingly being recognized as a manifestation of childhood-onset mitochondrial diseases (MDs). However, the spectrum and characteristics of these conditions have not been studied in detail in the context of a well-defined cohort of patients. We retrospectively explored a cohort of individuals with childhood-onset MDs querying the Nationwide Italian Collaborative Network of Mitochondrial Diseases database. Using a customized online questionnaire, we attempted to collect data from the subgroup of patients with movement disorders. Complete information was available for 102 patients. Movement disorder was the presenting feature of MD in 45 individuals, with a mean age at onset of 11 years. Ataxia was the most common movement disorder at onset, followed by dystonia, tremor, hypokinetic disorders, chorea, and myoclonus. During the disease course, most patients (67.7%) encountered a worsening of their movement disorder. Basal ganglia involvement, cerebral white matter changes, and cerebellar atrophy were the most commonly associated neuroradiological patterns. Forty-one patients harbored point mutations in the mitochondrial DNA, 10 carried mitochondrial DNA rearrangements, and 41 cases presented mutations in nuclear-DNA-encoded genes, the latter being associated with an earlier onset and a higher impairment in activities of daily living. Among our patients, 32 individuals received pharmacological treatment; clonazepam and oral baclofen were the most commonly used drugs, whereas levodopa and intrathecal baclofen administration were the most effective. A better delineation of the movement disorders phenotypes starting in childhood may improve our diagnostic workup in MDs, fine tuning management, and treatment of affected patients.