Affiliation: University of Siena
Formichi P, Radi E, Giorgi E, Gallus G, Brunetti J, Battisti C, et al
. Analysis of opa1 isoforms expression and apoptosis regulation in autosomal dominant optic atrophy (ADOA) patients with mutations in the opa1 gene. J Neurol Sci. 2015;351:99-108 pubmed publisher
..Concluding, we could confirm that oxidative stress-induced apoptosis may play a key role in the pathophysiological process bringing to retinal ganglion cells degeneration in ADOA. ..
Fecarotta S, Romano A, Della Casa R, Del Giudice E, Bruschini D, Mansi G, et al
. Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C. Orphanet J Rare Dis. 2015;10:22 pubmed publisher
..This conclusion applies particularly to patients with juvenile or adult onset of the disease. EudraCT number 2006-005842-35. ..
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. ..