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Promising riboflavin treatment for motor neuron disorder

Vincent Timmerman PhD, Peter De Jonghe MD, PhD
DOI: http://dx.doi.org/10.1093/brain/awt342 2-3 First published online: 13 January 2014

Many genes in which mutations cause motor neuron disorders have been identified, helping to provide early diagnosis or prognosis to patients; but there is still no cure for any of these pathologies. Only symptomatic and supportive therapies can provide better quality of life and may extend survival in the most severe cases, such as amyotrophic lateral sclerosis. In this issue of Brain, Foley and colleagues present a multicentre study on a promising and potentially life-saving treatment for Brown-Vialetto-Van Laere syndrome documented with genetic and clinical studies (Foley et al., 2013). This severe neurodegenerative disorder was first described as familial amyotrophic lateral sclerosis with onset in infancy (Brown, 1894). After Vialetto (1936) and Van Laere (1966) reported on this rare disorder, the disease became generally known as Brown–Vialetto–Van Laere syndrome (BVVL). With an increasing number of patients with BVVL being reported in the literature (Bosch et al., 2012), it became clear that the main clinical feature of this syndrome is progressive bulbar palsy often preceded by sensorineural deafness, with facial weakness and respiratory failure. The condition is genetically heterogeneous with mainly autosomal recessive inheritance, but dominant forms also occur. The female to male prevalence is 3:1, with boys being more severely affected than girls. Patients have variable age at onset (first to third decade), and those with early-onset tend to have rapid disease progression but survival can be prolonged with active management of respiration and weakness.

The first genetic studies were performed in a consanguineous family in which …

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