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See Latest ArticlesEnlarging clinical spectrum of FALS with TARDBP gene mutations: S393L variant in an Italian family showing phenotypic variability and relevance for genetic counselling
Amyotrophic Lateral Sclerosis, 09/08/09
Origone P et al. – The authors describe a further Italian family with FALS, in which a variant (p.S393L) of the TARDBP gene was identified. Clinical course and phenotypic variability in three affected siblings is presented and relevance for genetic counselling of patients and their families is underlined. At the present state of knowledge, they suggest that the same guidelines established for SOD1 molecular testing could be proposed also for TARDBP analysis in FALS.
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