Research Topics
| Ferdinando SquitieriSummaryAffiliation: IRCCS Neuromed Country: Italy Publications
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Detail Information
Publications
Distinct brain volume changes correlating with clinical stage, disease progression rate, mutation size, and age at onset prediction as early biomarkers of brain atrophy in Huntington's diseaseFerdinando Squitieri
Neurogenetics Unit, IRCCS Neuromed and Centre for Rare Diseases, Localita Camerelle, Pozzilli Is, Italy
CNS Neurosci Ther 15:1-11. 2009..The progressive CSF increase depended on CAG mutation size and continued linearly until the last stages of HD, perhaps representing the best marker of progression rate and severity in HD (R(2)= 0.25, P < 0.0001)...
Riluzole protects Huntington disease patients from brain glucose hypometabolism and grey matter volume loss and increases production of neurotrophinsFerdinando Squitieri
Neurogenetics Unit and Centre for Rare Disease, IRCCS Neuromed, Localita Camerelle, 86077, Pozzilli, Italy
Eur J Nucl Med Mol Imaging 36:1113-20. 2009....
One-year safety and tolerability profile of pridopidine in patients with Huntington diseaseFerdinando Squitieri
Centre for Neurogenetics and Rare Diseases, IRCCS Neuromed, Pozzilli, Italy
Neurology 80:1086-94. 2013..To assess the 1-year safety profile of the dopaminergic stabilizer pridopidine in patients with Huntington disease...
Huntington's disease: how intermediate are intermediate repeat lengths?Ferdinando Squitieri
Neurogenetics and Rare Diseases Centre, IRCCS Neuromed, Pozzilli, Italy
Mov Disord 27:1714-7. 2012..The expansion mutation in HTT is dominantly transmitted and codes for a protein named huntingtin (htt)...
Abnormal morphology of peripheral cell tissues from patients with Huntington diseaseFerdinando Squitieri
Neurogenetics Unit, IRCCS Neuromed and Centre for Rare Diseases, Localita Camerelle, 86077, Pozzilli Is, Italy
J Neural Transm 117:77-83. 2010..Moreover, the occurrence of ultrastructural cell pathology reminiscent of neuronal degeneration in HD, suggests the use of human peripheral cells as a tool to investigate the pathogenic cascade subsequent to huntingtin dysregulation...
Huntingtin fragmentation and increased caspase 3, 8 and 9 activities in lymphoblasts with heterozygous and homozygous Huntington's disease mutationVittorio Maglione
Neurogenetics Unit, IRCCS INM Neuromed, , Pozzilli, IS, Italy
Mech Ageing Dev 127:213-6. 2006..This data offers a biological explanation to the clinical in-patients evidence of mutation homozygosity associated with more severe phenotype...
Severe ultrastructural mitochondrial changes in lymphoblasts homozygous for Huntington disease mutationFerdinando Squitieri
Neurogenetics Unit, IRCCS Neuromed, Pozzilli, IS, Italy
Mech Ageing Dev 127:217-20. 2006..We argue that early mitochondrial impairment at basal level may affect the severity of HD progression in patients...
DNA instability in replicating Huntington's disease lymphoblastsMilena Cannella
Neurogenetics Unit, IRCCS Neuromed, Pozzilli, IS, Italy
BMC Med Genet 10:11. 2009..To test this hypothesis we used, as a model, cultured HD patients' lymphoblasts with various CAG repeat lengths...
Genotype-, aging-dependent abnormal caspase activity in Huntington disease blood cellsFerdinando Squitieri
Neurogenetics Unit and Rare Diseases Centre, IRCCS Neuromed, Pozzilli Is, Italy
J Neural Transm 118:1599-607. 2011..Peripheral tissues (i.e. blood cells) may theoretically represent an important tool for studying HD mechanisms and searching for new biomarkers, according to the patients' genotype...
Early defect of transforming growth factor β1 formation in Huntington's diseaseGiuseppe Battaglia
Neuropharmacology Unit, IRCCS Neuromed, Pozzilli, Italy
J Cell Mol Med 15:555-71. 2011....
The platelet maximum number of A2A-receptor binding sites (Bmax) linearly correlates with age at onset and CAG repeat expansion in Huntington's disease patients with predominant choreaVittorio Maglione
Neurogenetics Unit, IRCCS INM Neuromed, , 86077 Pozzilli, IS, Italy
Neurosci Lett 393:27-30. 2006..Further studies on a larger sample size should confirm whether the analysis of A(2A)-receptor binding in patients' blood could be a useful clinical marker according to the patients' phenotype...
Homozygosity for CAG mutation in Huntington disease is associated with a more severe clinical courseFerdinando Squitieri
Neurogenetics Unit, IRCCS INM Neuromed, Pozzilli Is, Italy
Brain 126:946-55. 2003..These data, once confirmed in a larger series of patients, point to the possibility that the mechanisms underlying age at onset and disease progression in Huntington disease may differ...
Juvenile Huntington's disease: does a dosage-effect pathogenic mechanism differ from the classical adult disease?Ferdinando Squitieri
Neurogenetics Unit, IRCCS Neuromed, Pozzilli, IS, Italy
Mech Ageing Dev 127:208-12. 2006..In this review we discuss the possibility that some of the pathogenic mechanisms contributing to age at onset and progression may differ in the early onset HD compared with the classical adult pathology...
Validation of the first quality-of-life measurement for patients with Huntington's disease: the Huntington Quality of Life InstrumentEmilie Clay
IRCCS Neuromed, Neurogenetics and Rare Diseases Centre, Pozzilli, Italy
Int Clin Psychopharmacol 27:208-14. 2012..No differential item functioning was detected. External validity supported the scale's robustness. These data support the validity of the H-QoL-I in patients with HD...
Reduced activity of cortico-striatal fibres in the R6/2 mouse model of Huntington's diseaseAnna Traficante
Department of Neuroscience, Istituto Neurologico Mediterraneo Neuromed, Localita Camerelle, Pozzilli, Italy
Neuroreport 18:1997-2000. 2007..These data support the hypothesis of a cortico-striatal dysfunction in Huntington's disease...
Current Pharmacological Management in Juvenile Huntington's DiseaseLisa Robertson
Department of Clinical Genetics, Sheffield Children s Hospital, Sheffield UK S10 2TH Neurogenetics and Rare Diseases Centre, IRCCS Neuromed, Pozzilli Is, Italy University of Cambridge Department of Clinical Neurophysiology, Institute of Psychiatry and Naurology, Warsaw, Poland and Dept of Neurology, University of Ulm, Ulm, Germany
PLoS Curr 4:RRN1304. 2012..5 patients were taking more than 8 medications.Conclusions: The most commonly prescribed group of medication was the anti-psychotic. Many patients were on multiple therapies, highlighting the need to rationalise medications...
