Affiliation: University of Siena
- Formichi P, Radi E, Branca C, Battisti C, Brunetti J, Da Pozzo P, et al. Oxidative stress-induced apoptosis in peripheral blood lymphocytes from patients with POLG-related disorders. J Neurol Sci. 2016;368:359-68 pubmed publisher..We also suggest that redox state homeostasis may play a crucial role in phenotypic expression of POLG-related diseases. ..
- Federico A, Dotti M. Cerebrotendinous xanthomatosis: clinical manifestations, diagnostic criteria, pathogenesis, and therapy. J Child Neurol. 2003;18:633-8 pubmed..We stress the importance of early diagnosis and treatment. In addition, we describe our experience in treating patients with chenodeoxycholic acid, an essential drug for this disorder that is no longer available. ..
- Federico A, Scali O, Stromillo M, Di Perri C, Bianchi S, Sicurelli F, et al. Peripheral neuropathy in vanishing white matter disease with a novel EIF2B5 mutation. Neurology. 2006;67:353-5 pubmed..Sequence analysis of EIF2B5 gene showed that the patient was a double heterozygote, with novel missense mutation CGA-->CAA in codon 269 of exon 6, resulting in the replacement of an arginine residue with glutamine. ..
- Federico A, Cardaioli E, Da Pozzo P, Formichi P, Gallus G, Radi E. Mitochondria, oxidative stress and neurodegeneration. J Neurol Sci. 2012;322:254-62 pubmed publisher..In the present review, we discuss several mitochondrial diseases as models of neurodegeneration. ..
- Stabile C, Taglia I, Battisti C, Bianchi S, Federico A. Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): update on molecular genetics. Neurol Sci. 2016;37:1565-9 pubmed publisher..The aim of this paper is to review the literature data about the molecular genetic pattern of HDLS. ..
- Da Pozzo P, Cardaioli E, Rubegni A, Gallus G, Malandrini A, Rufa A, et al. Novel POLG mutations and variable clinical phenotypes in 13 Italian patients. Neurol Sci. 2017;38:563-570 pubmed publisher..The addition of two new substitutions, including the second report of an in-frame duplication, to the growing list of defects increases the value of POLG genetic diagnosis in a range of neurological presentations. ..
- Di Donato I, Bianchi S, De Stefano N, Dichgans M, Dotti M, Duering M, et al. Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: update on clinical, diagnostic, and management aspects. BMC Med. 2017;15:41 pubmed publisher..We conclude with some suggestions that may help in the clinical practice and management of these patients. ..
- Rubegni A, Battisti C, Tessa A, Cerase A, Doccini S, Malandrini A, et al. SPG2 mimicking multiple sclerosis in a family identified using next generation sequencing. J Neurol Sci. 2017;375:198-202 pubmed publisher..The authors suggest that PLP1 testing might be considered in the evaluation of women with spastic paraparesis, cognitive decline and WM changes. ..
- Federico A, Di Donato I, Bianchi S, Di Palma C, Taglia I, Dotti M. Hereditary cerebral small vessel diseases: a review. J Neurol Sci. 2012;322:25-30 pubmed publisher..Specific diagnostic tools are recommended, genetic analysis being the gold standard for the diagnosis. ..