Aldo Quattrone

..We did not find significant differences in allele or genotype distributions between impaired and preserved MS patients. Our findings suggest that MPO polymorphism is not a risk factor for cognitive impairment in MS...

..Our aim was to investigate the presence of brain gray matter (GM) abnormalities in patients with different forms of essential tremor (ET)...

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..Our findings also demonstrate that MIGB uptake has a heterogeneous pattern in genetic PD, because it was differently impaired in patients with different mutations in the same gene or with the same gene mutation...

..Moreover, given the well-known role of this area in inhibitory control, our finding also provides new evidence for the involvement of 5-HT in PFC-mediated WM function...

..Two polymorphic sites in these genes (MPO-G/A and A2M-Ile/Val) have been associated with Alzheimer disease (AD), but conflicting findings have been reported in populations with different ethnic backgrounds...

..4% (3/14). Furthermore, we found a mutational rate of 22.2% (2/9) and 41.4% (12/29) in the complicated and pure forms, respectively. The results underlie the importance of genetic testing in all affected individuals...

..This study reveals pronounced genotype-related structural changes in a specific prefrontal region previously observed to mediate neurofunctional responses in behavioral tasks...

..A female sex-related effect for the risk of PDD may be so strong that it overcomes any protective effect due to genetic factors...

..This study addresses the relative effects of cognitive impairment and brain atrophy on the cortical reorganization associated with a visuo-motor task...

..In conclusion, we found that the NOS2A (CCTTT)(14) allele was detected more frequently in the control group than in the RRMS patients, thus confirming the scientific interest on this marker...

..When a true hypodopaminergic state is induced in PD patients, cognitive interference might significantly benefit from the administration of levodopa via an enhanced PFC response...

..This study provides evidence that the Val(108/158)Met polymorphism of the COMT gene might be responsible for individual variation in the human brain morphology...

..This functional magnetic resonance imaging study together with our previous volumetric findings highlights the role of the prefrontal cortex in the neuronal mechanisms of dyskinesia...

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..Our study shows that patients with essential tremor require additional cognitive effort to achieve comparable performance levels on test of attentional control...

..We showed that the mutation is associated with a loss of SCN1A function...

..Our results support the growing importance of mutations in non-coding portion of human genome, and confirm that alterations in DJ-1 are a cause, even if rare, of early-onset Parkinson's disease...

..Although with caution due to the small sample size, it also underscores the potential role of the Val66Met polymorphism on the peripheral BDNF expression in RRMS. Functional studies are needed to better clarify this issue...

..To clarify the possible role of other factors including the ApoE epsilon4 allele for memory decline in temporal lobe epilepsy (TLE)...

..Overall our findings offer new insights into the neurobiological mechanisms of emotions in multiple sclerosis and provide evidence that they resemble those described for some psychiatric disorders...

..Therefore, the present observation reinforces the notion of the phenotypic and genetic heterogeneity in PKAN...

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..We studied BRrc in patients with ET associated with resting tremor (rET) in comparison with patients with ET...

..Although the effective role of the PEN-2 promoter deletion in AD is not entirely clear, these findings might lead to more studies on its functional and genetic role...

..Our findings indicate that, in order to substantially contribute to the in vivo differential diagnosis of MSA-P, PSP and Parkinson's disease, rADC measurements should not be limited to the basal ganglia but should also include the MCP...

..No mutations were found. These data demonstrate absence of correlation between mutations in specific JAG1 gene exons and clinical features in patients with CADASIL-like phenotype...

..2% of patients were 10/10 versus 18.8% of controls). Haplotype analysis did not increase the evidence for association. These results suggest that the serotonin transporter gene may play a role in the etiology of TLE...

..006, OR=1.632; 95%CI=1.15-2.31). This is the first publication of data that support the hypothesis that the common methionine/valine polymorphism at codon 129 of the PRNP gene may modify the susceptibility of women to mild TLE...

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..Our findings suggest that the presence of dyskinesias in patients with PD is characterized by an aberrant neural plasticity that could play a role in the pathophysiology of these motor complications...

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..32 mm+/-0.77, P<.001) or control subjects (9.80 mm+/-0.66, P<.001). CONCLUSION: Measurement of MCP width on MR images may be useful for distinguishing patients with MSA from those with PD...

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..In conclusion, our data suggest that the rs2910164 variant in the pre-miR-146a gene is unlikely to influence significantly the risk of developing TLE or its severity...

..No significant differences were found in genotype and allele frequencies between PD and controls for all the polymorphisms studied, suggesting that these variants do not contribute significantly to the risk of PD...

..NF1 is caused by inactivating mutations of the 17q11.2-located NF1 gene. We present a clinical and molecular study of an Italian family with NF1...

..In particular, thickness measurement of the orbitofrontal cortex provides new evidence about the biological impact of the MAO A genotype on neural systems relevant to the pathophysiology of behavioural disorders...

..No significant differences in allelic and genotypic distributions were found between cases and controls, or late and early-onset AD patients, thus suggesting that these polymorphisms do not represent an AD risk factor in our population...

..11delT). This novel mutation creates a shift on the reading frame starting at codon 4 and leads to the introduction of a premature stop at codon 6...

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..These results suggest that a genetic polymorphism of the MMP-9 promoter region may influence the susceptibility to MS...

..86±0.20; delayed: 1.80±0.23) and in controls (H/M early: 1.91±0.17; delayed: 1.99±0.19), suggesting that cardiac (123)I-MIBG scintigraphy can help distinguish patients with LBD from those with FTD...

..Our study suggests that the combined use of both DAT-SPECT and MIBG scintigraphy in mixed tremors with additional extrapyramidal features can help distinguish patients with ET from those with PD and parkinsonism...

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..The frequency of the detected exon variation in the VAPB gene was not significantly different between patients and controls. In conclusion, our study suggests that VAPB mutations are not a common cause of adult-onset SALS...

..17+/-0.02 early; 1.16+/-0.02 delayed; PD-FOG: 1.22+/-0.10 early; 1.08+/-0.06 delayed). Our findings demonstrate that cardiac sympathetic denervation did not occur in patients with PPFG, confirming that PPFG and PD are distinct diseases...

..2%) had a heterozygous substitution (P = 0.0018). These results strongly suggest that Italian carriers of a GBA mutation have an increased risk of developing PD...

..Herein, we used optimized voxel-based morphometry (VBM) to identify GM abnormalities beyond the hippocampus in both rTLE and mTLE with evidence of MTS...

..We investigated for the presence of this mutation in 169 unrelated ALS patients from southern Italy. The genetic analysis revealed three ALS patients (1.8%) with mild phenotype carrying the homozygous D90A mutation...

..Mutations in the EFHC1 gene have been reported in six juvenile myoclonic epilepsy (JME) families from Mexico and Belize. In this study, we screened 27 unrelated JME Italian families for mutations in the EFHC1 gene...

..Despite the suboptimal sensitivity, the high specificity of the T2*/15 sequence performed on routine MRI suggests its usefulness in clinical practice for identifying putaminal hypointensities associated with parkinsonian disorders...

..In this study, we evaluated the accuracy of MRPI, compared with midbrain/pons ratio, in distinguishing PSP from probable and possible PD...

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..Both mutations cosegregated with the disease and were detected in a heterozygous state in the patients' mother and their healthy siblings. Our findings expand the spectrum of clinical presentations associated with mutations in DJ-1 gene...

..41G>A; c.523+3ins[GAGGTG]; c.335-15del[TTTT]; and rs13331793) in 9 patients from within our cohort. This study underlines the importance of population-based mutation screening of newly identified genes...

..The analysis was negative thus excluding a complicated form of autosomal dominant hereditary spastic paraparesis. These data further confirm a genetic heterogeneity within inherited motor neuronopathy...

..Additionally, Lamin A/C, which is mutated in CMT2B1, was overexpressed in the patient, suggesting that CMT-causing genes may interact in a regulatory network...

..4%) subjects with PD and in only one of the 370 (0.27%) healthy controls (P < 0.001), thus indicating that these relatively large alleles may be associated with PD...

..To asses thymosin β4 specificity as relevant to the diagnosis of Creutzfeldt-Jakob disease (CJD)...

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..Our study underlined that pain should be considered as a relevant symptom in CMT patients and further studies should be performed...

..To study prognosis and prognostic predictors of sporadic non-lesional temporal lobe epilepsy (TLE)...

..The present data suggest that these polymorphisms do not represent a risk factor for PD and do not modulate the age at onset of PD...

..1322-2A>C). The frequency for SPG4 mutations detected in autosomal dominant hereditary spastic paraplegia was 44.4%. This study contributes to expand the spectrum of SPG4 mutations in Italian population...

..To evaluate if a standard awake EEG recording in the morning is superior to afternoon awake EEG session in detecting generalized epileptiform discharges (GEDs) in patients with juvenile myoclonic epilepsy (JME)...

..CONCLUSIONS: The present study provides the first evidence of a peculiar form of MS characterized by TLE as the unique manifestation of the disease with no disability or MS relapses at long-term follow-up...

..Moreover these results confirm the potential for functional recovery and the adaptive role of these areas in the motor reorganization of multiple sclerosis patients...

..The reported experimental procedures appear to be essential for 2DE separation of peripheral nerve proteins for the establishment of a reference map...

..In 1911, he designated these factors 'vitamins' ('vita' = life, and 'amine' = a nitrogenous substance essential for life); this name was accepted by the scientific community in 1912...

..In this study, we describe a new method to detect SMN gene deletion by denaturing high-performance liquid chromatography, which is also simple to perform but is faster and more specific...

..Defining the haplotype blocks also failed to detect any associated haplotypes. Our results suggest that polymorphic variation within the NOS2A gene does not influence the susceptibility to MS in patients of Italian origin...

..This condition suddenly reverted after the tacrolimus was stopped...

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..This result suggests that the association between a given disease and a genomic characteristic must be confirmed by separate investigations in different populations...

..We have used some original documents from the Royal Society of London, where Ehrlich was a fellow, and from Leipzig University, where he took a degree in medicine...

..In this article, the existing data regarding prion infection, biomarkers for CJD diagnosis and the use of several modern proteomic technologies for the identification of new cerebrospinal fluid polypeptides involved in CJD are reviewed...

..We investigated 30 patients with familial essential tremor (ET) for spinocerebellar ataxia type 12 (SCA-12) mutations. No patient presented a CAG repeat larger than 19, suggesting that familial ET and SCA-12 are distinct diseases...

..However, in contrast to pulsed field gel electrophoresis, Real-Time PCR does not need fresh blood, minimizes diagnosis time and cost, and thus can be easily used for the molecular diagnosis of Charcot-Marie-Tooth type 1A...

..This could explain gender differences for the development of LD-induced peak-dose dyskinesias observed during the course of the disease...

..This analysis revealed a novel mutation in homozygous form in the exon 7 that caused an aminoacid substitution at codon 222 (Leu --> Pro). Direct sequencing of the exon 7 in both parents showed the same substitution in heterozygous form...

..3 years. Significant linkage to the SPG3 locus on chromosome 14 was detected. The authors also report their search for mutations in a gene located in the region and its exclusion as a candidate for SPG3...

..CONCLUSION: Our data provide further information about normative values on MT detected by MTA, and indicate that age and handedness are the main variables influencing motor task performance...

..e., postsynaptic versus presynaptic) or transduction pathways are involved in such responses...

..Additional clinical and functional studies will clarify whether specific mutations may influence the course of the disease in LD patients...

..In 3 homozygotes and 1 heterozygote, a 2-year follow-up single photon emission computed tomography suggested no progression of nigrostriatal deficit...

..Alpha-synuclein (SNCA) has been one of the most promising susceptibility genes, but large-scale studies have been lacking...

..Our data do not suggest that the presence of these two factors influences the clinical presentation or the course of the disease...

..Thus, M145T is a loss-of-function mutant. These results show that monogenic FS should also be considered a channelopathy...

..High-activity allele carriers have higher enzyme expression, lower amine concentration, and present higher scores on behavioral measures of impulsivity than low-activity allele carriers...

..11. None of the four newly identified nucleotide substitutions, namely C77T (Pro59Pro) in exon 4, G69C (Asp121His) in exon 5, T127A (Ile187Asn) and A138G (Thr191Ala) in exon 6, was significantly associated to MS...

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..These findings confirm that UCHL1 is a susceptibility gene for PD and a potential target for disease-modifying therapies...