Severe 5,10-methylenetetrahydrofolate reductase deficiency: a rare, treatable cause of complicated hereditary spastic paraplegia.

BACKGROUND AND PURPOSE: Juvenile- or adult-onset forms of severe 5,10-methylenetetrahydrofolate reductase (MTHFR) deficiency manifesting as complicated hereditary spastic paraplegia have rarely been described. METHODS: Two siblings with mental retardation developed a progressive spastic paraparesis in their late teens. Their diagnostic assessment included extensive neurophysiologic, neuroimaging and metabolic studies. RESULTS: Brain magnetic resonance imaging showed occipital white matter alterations, and electromyography documented a mixed polyneuropathy. Severe hyperhomocisteinemia (>150 µmol/L) associated with the characteristic amino acid profile suggested a diagnosis of severe MTHFR deficiency, confirmed by MTHFR direct sequencing. Treatment with betaine and vitamins benefitted patients' symptoms and diagnostic features. CONCLUSIONS: Severe MTHFR deficiency can be a rare, treatable cause of autosomal recessive complicated hereditary spastic paraplegia. Its screening should be part of the diagnostic flowchart for these disorders.

[Results of some experiences on modern techniques of vinification of red grapes]. / Risultati di alcune esperienze su moderne tecniche di vinificazione in rosso

The results of experiences carryed out at the "Istituto di Industrie Agrarie" of the University of Bologna in the last five years, applying the techniques of vinification by carbonic maceration (CM) and by heat treatment of the crushed in the production of Emilia-Romagna wines, are reported. In particular, the evolution of the main organic constituents during anaerobic conditioning of grapes, the possibility of applying the CM to Sangiovese, Merlot and Canina grapes, the different variations of the CM technique, that is, CM followed by information with skins, the rifermentation of wines produced by traditional method with 10-20% of grape juice obtained by CM, the influence of CM on aging of barbera wine, some laboratory tests to explain the mechanism that regulate same interaction phenomena during the "intracellular fermentation", are discussed. The results of technique of heat treatment of the crushed, in the vinification of Sangiovese grapes, in a pilot plant, are exposed. Finally, the effects of some parameters (treatment of the crushed integral or partially dripped, heating temperature, rest time, sulphur dioxide employ, etc.) on the chemical characteristics and on the organoleptic quality, are estimated.