Publications by authors named "Lorenzo Verriello"

20 Publications

  • Page 1 of 1

Case report and ten-year follow-up of episodic ataxia type 2 due to a novel variant in CACNA1A.

eNeurologicalSci 2021 Jun 13;23:100334. Epub 2021 Mar 13.

Clinical Neurology Unit, Department of Neurosciences, Santa Maria della Misericordia University Hospital, Udine, Italy.

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http://dx.doi.org/10.1016/j.ensci.2021.100334DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7994720PMC
June 2021

What's behind drawing for an artist with left temporal lobe epilepsy? A multimodal neurophysiological study.

Epilepsy Behav Rep 2021 31;16:100418. Epub 2020 Dec 31.

Scientific Institute IRCCS "Eugenio Medea", Polo FVG, San Vito al Tagliamento (PN), Italy.

There are few studies in literature reporting drawing as a strong trigger of praxis-induced focal seizures. The aim of the present case report was describing a case of focal epilepsy with praxis induced EEG activation, due to a cavernoma, in the left middle anterior temporal lobe by using a multimodal approach. We combined video-EEG, showing that drawing increased a sustained monomorphic delta activity localized on left anterior temporal region (F7-T1a), diffusing to the vertex (Fz) and the fronto-polar electrodes (F3), with DTI data, showing that the left uncinate fasciculus, connecting the temporal pole to the orbitofrontal cortex, significantly differed from controls. fMRI confirmed that drawing increased activation in these areas. The congruence between findings supports the role of the left uncinated fasciculus linking the temporal lobe to the orbitofrontal cortex in the present focal epilepsy mainly facilitated by drawing.
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http://dx.doi.org/10.1016/j.ebr.2020.100418DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7788090PMC
December 2020

Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes.

Neurol Sci 2020 Nov 10. Epub 2020 Nov 10.

Department of Neurosciences, Biomedicine and Movement Sciences, Section of Clinical Neurology, University of Verona, Verona, Italy.

Background: Myofibrillar myopathies (MFM) are a subgroup of protein aggregate myopathies (PAM) characterized by a common histological picture of myofibrillar dissolution, Z-disk disintegration, and accumulation of degradation products into inclusions. Mutations in genes encoding components of the Z-disk or Z-disk-associated proteins occur in some patients whereas in most of the cases, the causative gene defect is still unknown. We aimed to search for pathogenic mutations in genes not previously associated with MFM phenotype.

Methods: We performed whole-exome sequencing in four patients from three unrelated families who were diagnosed with PAM without aberrations in causative genes for MFM.

Results: In the first patient and her affected daughter, we identified a heterozygous p.(Arg89Cys) missense mutation in LMNA gene which has not been linked with PAM pathology before. In the second patient, a heterozygous p.(Asn4807Phe) mutation in RYR1 not previously described in PAM represents a novel, candidate gene with a possible causative role in the disease. Finally, in the third patient and his symptomatic daughter, we found a previously reported heterozygous p.(Cys30071Arg) mutation in TTN gene that was clinically associated with cardiac involvement.

Conclusions: Our study identifies a new genetic background in PAM pathology and expands the clinical phenotype of known pathogenic mutations.
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http://dx.doi.org/10.1007/s10072-020-04876-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7654353PMC
November 2020

Nusinersen safety and effects on motor function in adult spinal muscular atrophy type 2 and 3.

J Neurol Neurosurg Psychiatry 2020 11 11;91(11):1166-1174. Epub 2020 Sep 11.

Department of Neurosciences, University of Padua, Padova, Veneto, Italy.

Objective: To retrospectively investigate safety and efficacy of nusinersen in a large cohort of adult Italian patients with spinal muscular atrophy (SMA).

Methods: Inclusion criteria were: (1) clinical and molecular diagnosis of SMA2 or SMA3; (2) nusinersen treatment started in adult age (>18 years); (3) clinical data available at least at baseline (T0-beginning of treatment) and 6 months (T6).

Results: We included 116 patients (13 SMA2 and 103 SMA3) with median age at first administration of 34 years (range 18-72). The Hammersmith Functional Rating Scale Expanded (HFMSE) in patients with SMA3 increased significantly from baseline to T6 (median change +1 point, p<0.0001), T10 (+2, p<0.0001) and T14 (+3, p<0.0001). HFMSE changes were independently significant in SMA3 sitter and walker subgroups. The Revised Upper Limb Module (RULM) in SMA3 significantly improved between T0 and T14 (median +0.5, p=0.012), with most of the benefit observed in sitters (+2, p=0.018). Conversely, patients with SMA2 had no significant changes of median HFMSE and RULM between T0 and the following time points, although a trend for improvement of RULM was observed in those with some residual baseline function. The rate of patients showing clinically meaningful improvements (as defined during clinical trials) increased from 53% to 69% from T6 to T14.

Conclusions: Our data provide further evidence of nusinersen safety and efficacy in adult SMA2 and SMA3, with the latter appearing to be cumulative over time. In patients with extremely advanced disease, effects on residual motor function are less clear.
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http://dx.doi.org/10.1136/jnnp-2020-323822DOI Listing
November 2020

Primary Orthostatic Tremor in 2 Siblings.

Mov Disord Clin Pract 2020 Feb 30;7(2):234-236. Epub 2019 Dec 30.

Neurology Unit, Department of Neurosciences Santa Maria della Misericordia University Hospital Udine Italy.

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http://dx.doi.org/10.1002/mdc3.12869DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7011815PMC
February 2020

Status epilepticus mimicking stroke recurrence.

Epilepsy Behav 2020 03 16;104(Pt B):106509. Epub 2019 Oct 16.

Clinical Neurology Unit, University of Udine, Udine, Italy; Department of Medicine (DAME), University of Udine, Udine, Italy.

Aim Of The Study: The aim of the study was to evaluate the clinical characteristics of patients with previous stroke (either ischemic or hemorrhagic), who developed status epilepticus (SE) mimicking a stroke relapse.

Materials And Methods: We performed a retrospective cohort study of patients brought to hospital by the emergency service between December 2016 and January 2018 with a stroke code as possible candidates for intravenous thrombolysis and who had already have a previous stroke. Among them, patients admitted for negative symptoms and finally discharged with a diagnosis of SE mimicking stroke were selected and their clinical characteristics collected. All patients underwent routine blood sample analysis, head computed tomography (CT) scan and, when indicated, CT angiography and CT-perfusion imaging of the head. After admission in our stroke unit, an Electroencephalogram (EEG) was performed within 3 h in patients suspected with SE, then classified according to International League Against Epilepsy (ILAE) classification (2015). Outcome measures were SE duration, antiepileptic drugs (AEDs) administered, mortality at 12 months, Engel scale, and modified Rankin scale (m-RS) at 6 months. A second cohort included those consecutive patients discharged with a true stroke relapse in the same considered time span. Clinical characteristics of these two cohorts were compared using Mann-Whitney test or Student t-test (Confidence Interval (C.I.) 95%, p < 0.05) for continuous variable and Fisher exact test or Pearson-Chi test for dichotomic variables (p < 0.05). Survival rates were calculated, and a Log-Rank test was performed to evaluate differences in survival distribution. Only in the group with SE, m-RS at 6 months and recurrence of SE were also evaluated.

Results: Eleven patients were discharged with a diagnosis of SE mimicking stroke and 65 patients with stroke relapse. Temporal lobe localization was significantly more represented in group with SE (p = 0.036) while there was no difference regarding age, sex, and National Institutes of Health Stroke Scale (NIHSS). The m-RS was significantly higher in patients with hemorrhage relapse, mainly due to the high incidence of amyloid angiopathy in this subgroup. Status epilepticus recurred in 36.4% of patients, presenting with the same clinical features, and most patients (62.5%) achieved a good seizure control at 6 months (Engel scale = 1). A difference in mortality at 12 months (all cause considered) appeared only when distinguishing strokes between ischemic and hemorrhagic (Chi-Square: 10.711, p < 0.005).

Discussion And Conclusion: Status epilepticus is not infrequent in patients with previous stroke and may present with negative neurological symptoms, thus mimicking a stroke recurrence. EEG should be considered as a potential diagnostic tool in the acute stroke setting, at least in patients with previous stroke. This article is part of the Special Issue "Seizures & Stroke".
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http://dx.doi.org/10.1016/j.yebeh.2019.106509DOI Listing
March 2020

A rare case of pure sensitive Parsonage-Turner syndrome.

Neurol Sci 2019 Jul 7;40(7):1499-1501. Epub 2019 Feb 7.

Neurology Clinic, Azienda Ospedaliero Universitaria Santa Maria della Misericordia, Udine, Italy.

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http://dx.doi.org/10.1007/s10072-019-03747-0DOI Listing
July 2019

Epidemiology of amyotrophic lateral sclerosis in Friuli-Venezia Giulia, North-Eastern Italy, 2002-2014: a retrospective population-based study.

Amyotroph Lateral Scler Frontotemporal Degener 2019 02 15;20(1-2):90-99. Epub 2018 Nov 15.

a Medical Area Department , University of Udine , Udine , Italy.

Objectives: To describe the epidemiology of Amyotrophic Lateral Sclerosis (ALS) in Friuli-Venezia Giulia (FVG) region, Italy, over a 13-year period (2002-2014), estimating ALS (a) incidence, prevalence, and clinical features; (b) mortality, also comparing Udine municipality to the rest of FVG.

Methods: We conducted a retrospective population-based study. ALS incident cases were ascertained using multiple sources and validated through expert review. We calculated crude and standardized incidence rate (IR), point prevalence and mortality rate (MR), each with 95% confidence interval. Standardized incidence (SIR) and mortality (SMR) ratio were calculated to compare Udine to FVG.

Results: Among 444 incident cases (50.0% men, median age 68.5 years), onset was bulbar in 30.2%, spinal in 59.9%, mixed in 9.9%; 3.6% had familial ALS. Crude and 2000 European population standardized IR was respectively 2.81 (2.56-3.09) and 2.09 (1.89-2.29) per 100,000 person-years. Standardized male-to-female incidence ratio was 1.05. IR peaked at age 65-74 years (men: 9.93, 8.04-12.32; women: 7.74, 6.18-9.67) and decreased thereafter. Prevalence was 8.36 (6.74-9.97) cases per 100,000 inhabitants on 30 June 2009 and 7.98 (6.40-9.56) on 30 June 2014. SIR was 1.20 and SMR 1.11.

Conclusions: When assessed over a long period, incidence of ALS was in the range of Italian and European population-based registries and showed a consistent pattern by age and sex. IR and MR were only slightly higher in Udine vs. FVG.
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http://dx.doi.org/10.1080/21678421.2018.1511732DOI Listing
February 2019

A rare case of paroxysmal diplopia: ocular neuromyotonia.

Neurol Sci 2018 10 31;39(10):1785-1786. Epub 2018 May 31.

Neurology Clinic, Azienda Ospedaliero Universitaria Santa Maria della Misericordia, Udine, Italy.

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http://dx.doi.org/10.1007/s10072-018-3460-9DOI Listing
October 2018

Twenty years of molecular analyses in amyotrophic lateral sclerosis: genetic landscape of Italian patients.

Neurobiol Aging 2018 06 1;66:179.e5-179.e16. Epub 2018 Feb 1.

Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Section of Medical Genetics, University of Genoa, Genoa, Italy; Medical Genetics Unit, Department of Diagnosis, Pathology and Treatments of High Technological Complexity, IRCCS Ospedale Policlinico San Martino, Genoa, Italy. Electronic address:

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease with a heterogeneous genetic background. Because mutation analysis by Sanger sequencing is costly and time-consuming, in recent years, next-generation sequencing (NGS) techniques have become of much interest. This study analyses the results of 20 years of molecular analyses in ALS patients in our laboratory using traditional methods and NGS. Almost 300 ALS patients underwent genetic analysis with Sanger sequencing of 7 genes or with an NGS panel of 23 genes. The C9orf72 expansion was tested by fragment size analysis. Sanger sequencing revealed mutations in 23.8% of familial and 3.8% of sporadic cases, whereas NGS detected potentially pathogenic variants in 45.5% of familial and 5.4% of sporadic cases and variants of unknown significance in 30.3% of patients. In 11.8% of patients, potentially causative mutations were found in 2 or more ALS genes. Compared to traditional methods, NGS is more effective in revealing possibly causal variants, but counseling patients becomes more complicated due to frequent variants of unknown significance and potentially oligogenic cases.
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http://dx.doi.org/10.1016/j.neurobiolaging.2018.01.013DOI Listing
June 2018

Identification and characterization of the novel m.8305C>T MTTK and m.4440G>A MTTM gene mutations causing mitochondrial myopathies.

Neuromuscul Disord 2018 02 31;28(2):137-143. Epub 2017 Oct 31.

Mitochondrial Disorders Unit, Vall d'Hebron Institut de Recerca, Barcelona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain. Electronic address:

We report on two novel mtDNA mutations in patients affected with mitochondrial myopathy. The first patient, a 44-year-old woman, had bilateral eyelid ptosis and the m.8305C>T mutation in the MTTK gene. The second patient, a 56-year-old man, had four-limb muscle weakness and the MTTM gene m.4440G>A mutation. Muscle biopsies in both patients showed ragged red fibers and numerous COX-negative fibers as well as a combined defect of complex I, III and IV activities. The two mutations were heteroplasmic and detected only in muscle tissue, with a higher mutation load in COX-negative fibers. Additionally, both mutations occurred in highly conserved mt-tRNA sites, and were not found by an in silico search in 30,589 human mtDNA sequences. Our report further expands the mutational and phenotypic spectrum of diseases associated with mutations in mitochondrial tRNA genes and reinforces the notion that mutations in mitochondrial tRNAs represent hot spots for mitochondrial myopathies in adults.
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http://dx.doi.org/10.1016/j.nmd.2017.10.006DOI Listing
February 2018

Formal Semantics in the Neurology Clinic: Atypical Understanding of Aspectual Coercion in ALS Patients.

Front Psychol 2016 4;7:1733. Epub 2016 Nov 4.

Neurology Unit, Azienda Ospedaliero Universitaria Santa Maria della Misericordia Udine, Italy.

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease of the motor system with subtle adverse effects on cognition. It is still unclear whether ALS also affects language and semantics, and if so, what aspects and processes exactly. We investigated how ALS patients understand verb phrases modified by temporal preposition phrases, e.g., "To watch TV for half an hour." Interpretation here requires operations such as that add or delete elements from event structures, depending on temporal modifiers, and , which make combinations with certain modifiers not viable. Using a theoretically-motivated experimental design, we observed that acceptance rates for aspectual coercion were abnormally high in ALS patients. The effect was largest for the more complex cases of coercion: not those that involve of event structures ("To switch on the TV in half an hour," where a number of failed attempts must be included in the interpretation) but those that, if applied, would result in of event structure elements ("To repair the TV for half an hour"). Our experimental results are consistent with a deficit of constraints on coercion, and not with impaired semantic processes or representations, in line with recent studies suggesting that verb semantics is largely spared in ALS.
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http://dx.doi.org/10.3389/fpsyg.2016.01733DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5095610PMC
November 2016

Evaluating the SERCA2 and VEGF mRNAs as Potential Molecular Biomarkers of the Onset and Progression in Huntington's Disease.

PLoS One 2015 27;10(4):e0125259. Epub 2015 Apr 27.

Dipartimento di Scienze Mediche e Biologiche, Università degli Studi di Udine, Udine, Italy; SOC Istituto di Patologia Clinica, Azienda Ospedaliero Universitaria di Udine, Udine, Italy.

Abnormalities of intracellular Ca2+ homeostasis and signalling as well as the down-regulation of neurotrophic factors in several areas of the central nervous system and in peripheral tissues are hallmarks of Huntington's disease (HD). As there is no therapy for this hereditary, neurodegenerative fatal disease, further effort should be made to slow the progression of neurodegeneration in patients through the definition of early therapeutic interventions. For this purpose, molecular biomarker(s) for monitoring disease onset and/or progression and response to treatment need to be identified. In the attempt to contribute to the research of peripheral candidate biomarkers in HD, we adopted a multiplex real-time PCR approach to analyse the mRNA level of targeted genes involved in the control of cellular calcium homeostasis and in neuroprotection. For this purpose we recruited a total of 110 subjects possessing the HD mutation at different clinical stages of the disease and 54 sex- and age-matched controls. This study provides evidence of reduced transcript levels of sarco-endoplasmic reticulum-associated ATP2A2 calcium pump (SERCA2) and vascular endothelial growth factor (VEGF) in peripheral blood mononuclear cells (PBMCs) of manifest and pre-manifest HD subjects. Our results provide a potentially new candidate molecular biomarker for monitoring the progression of this disease and contribute to understanding some early events that might have a role in triggering cellular dysfunctions in HD.
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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0125259PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4411078PMC
February 2016

The Use of Antidepressant Medication before and after the Diagnosis of Amyotrophic Lateral Sclerosis: A Population-Based Cohort Study.

Neuroepidemiology 2015 5;44(2):91-8. Epub 2015 Mar 5.

Institute of Hygiene and Clinical Epidemiology, University Hospital of Udine, Udine, Italy.

Background: The prevalent use of antidepressants (ATDs) in patients with Amyotrophic Lateral Sclerosis (ALS) varies across cross-sectional and clinic-based published studies. This population-based cohort study assesses the real-world prevalence of the use of ATDs, its trajectory and the association of incident use with clinical characteristics.

Methods: All patients with incident ALS in the Friuli Venezia Giulia region, Italy, from 2002 to 2009, were identified through multiple sources including health databases. Diagnosis was validated through clinical documentation review. ATDs prescriptions from 2000 to 2011 were obtained from regional database. The trajectory was estimated through generalized estimating equations for repeated measures logistic regression and the Hazard ratio (HR) of initiating ATDs through multivariate proportional hazard Cox regression.

Results: In this cohort of 261 ALS cases, age-, sex-adjusted prevalence of the use of ATDs was 37.3%, higher than in general population. The trajectory increased by 16% in 1-year period across diagnosis. Age ≤67 years at diagnosis (HR 1.28, 95% CI 0.84-1.95) and bulbar onset (1.43, 95% CI 0.90-2.26) were positively associated with initiating ATDs after diagnosis.

Conclusions: More than one-third of patients used ATDs. Depression may occur more frequently than previously reported. Depression may precede motor alterations and be related to both ALS diagnosis and progression.
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http://dx.doi.org/10.1159/000374119DOI Listing
January 2016

The processing of actions and action-words in amyotrophic lateral sclerosis patients.

Cortex 2015 Mar 27;64:136-47. Epub 2014 Oct 27.

Area of Neuroscience, Scuola Internazionale di Studi Superiori Avanazati - SISSA, Trieste, Italy.

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease with prime consequences on the motor function and concomitant cognitive changes, most frequently in the domain of executive functions. Moreover, poorer performance with action-verbs versus object-nouns has been reported in ALS patients, raising the hypothesis that the motor dysfunction deteriorates the semantic representation of actions. Using action-verbs and manipulable-object nouns sharing semantic relationship with the same motor representations, the verb-noun difference was assessed in a group of 21 ALS-patients with severely impaired motor behavior, and compared with a normal sample's performance. ALS-group performed better on nouns than verbs, both in production (action and object naming) and comprehension (word-picture matching). This observation implies that the interpretation of the verb-noun difference in ALS cannot be accounted by the relatedness of verbs to motor representations, but has to consider the role of other semantic and/or morpho-phonological dimensions that distinctively define the two grammatical classes. Moreover, this difference in the ALS-group was not greater than the noun-verb difference in the normal sample. The mental representation of actions also involves an executive-control component to organize, in logical/temporal order, the individual motor events (or sub-goals) that form a purposeful action. We assessed this ability with action sequencing tasks, requiring participants to re-construct a purposeful action from the scrambled presentation of its constitutive motor events, shown in the form of photographs or short sentences. In those tasks, ALS-group's performance was significantly poorer than controls'. Thus, the executive dysfunction manifested in the sequencing deficit -but not the selective verb deficit- appears as a consistent feature of the cognitive profile associated with ALS. We suggest that ALS can offer a valuable model to study the relationship between (frontal) motor centers and the executive-control machinery housed in the frontal brain, and the implications of executive dysfunctions in tasks such as action processing.
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http://dx.doi.org/10.1016/j.cortex.2014.10.007DOI Listing
March 2015

The incidence of amyotrophic lateral sclerosis in Friuli Venezia Giulia, Italy, from 2002 to 2009: a retrospective population-based study.

Neuroepidemiology 2013 25;41(1):54-61. Epub 2013 May 25.

Department of Medical and Biological Sciences, University of Udine, Udine, Italy.

Background: We conducted a retrospective population-based study to estimate the incidence of amyotrophic lateral sclerosis (ALS) in Friuli Venezia Giulia, Italy, from 2001 to 2009.

Methods: Multiple sources were used for case ascertainment: Health databases, archives of the neurology departments and of the regional chapter of the Italian ALS Association. The diagnosis was validated through clinical documentation review. Crude and standardized incidence rates (IRs) per 100,000 person-years were calculated.

Results: We identified 262 incident ALS cases, 50.4% men, 4.2% familial. Half of the patients had spinal onset (56.8% in men) and 25.2% bulbar (29% in women). Bulbar onset had a similar frequency in women (31.7%) and men (31.5%) aged 67 or above at diagnosis. The crude IR was 2.72 (95% confidence interval, 95% CI, 2.39-3.05) and the male:female ratio 1.08. The IR peaked in the 65-74 age group, with a second increase in men 85 years and older. The IR standardized to the 2001 Italian population was 2.38 (95% CI 2.13-2.63) and to the 2000 European population 2.58 (95% CI 2.34-2.81).

Conclusions: This retrospective study found IRs of ALS in the range of Italian and European prospective population-based registries, suggesting an almost complete case ascertainment.
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http://dx.doi.org/10.1159/000350015DOI Listing
February 2014

Botulinum neurotoxin serotype D is poorly effective in humans: an in vivo electrophysiological study.

Clin Neurophysiol 2013 May 13;124(5):999-1004. Epub 2012 Dec 13.

Neurological Department, University-Hospital S. Maria della Misericordia, Udine, Italy.

Objective: Botulinum neurotoxins act on nerve endings and block neurotransmitter release. Their potency is due to their enzymatic activity and high affinity binding to neurons. Botulinum toxin type A is used in the treatment of human diseases characterized by hyperactivity of peripheral cholinergic nerve terminals, but some patients are or become resistant to it. This can be overcome by using other botulinum toxins, and studies have been performed with different toxin serotypes. Botulinum neurotoxin type D has never been tested in humans in vivo, and, therefore, we investigated the action of this toxin in mouse and human muscles.

Methods: Botulinum toxin type D potency was determined on mouse hemidiaphragm and on rat neuronal cultures. From these experiments, doses to be injected in human volunteers were decided. The compound muscle action potential of toxin-injected Extensor Digitorum Brevis muscle was measured at different times points after injection in human volunteers.

Results: Botulinum toxin type D is poorly effective in inducing human skeletal muscle paralysis.

Conclusions: Botulinum toxin type D is very potent in mice and almost ineffective in humans in vivo.

Significance: The results shed new light on the mechanism of toxin type D binding to the neuronal surface receptors.
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http://dx.doi.org/10.1016/j.clinph.2012.11.004DOI Listing
May 2013

Deep brain stimulation: Subthalamic nucleus electrophysiological activity in awake and anesthetized patients.

Clin Neurophysiol 2012 Dec 7;123(12):2406-13. Epub 2012 Jun 7.

Neurology Unit, University-Hospital S. Maria della Misericordia, Udine, Italy.

Objective: The purpose of this study was to evaluate changes in subthalamic nucleus (STN) neuronal activity in Parkinson's disease (PD) patients during deep brain stimulation (DBS) surgery under general anesthesia, and to compare these data with those recorded in the same subjects during previous surgery under local anesthesia.

Methods: Five patients with advanced PD, who had previously undergone bilateral STN-DBS under local anesthesia, underwent re-implantation under general anesthesia (with an anesthetic protocol based on the intravenous infusion of remifentanyl and ketamine) owing to surgical device complications. The microelectrode recording (MER) data obtained were analyzed by an off-line spike-sorting software. Neurophysiological data (number of spikes detected, mean firing rate, pause index and burst index) obtained under local and general anesthesia were then evaluated and compared by means of statistical analysis.

Results: We found no statistically significant difference between the first and second surgical procedures in any of the neurophysiological parameters analyzed.

Conclusions: Bilateral STN-DBS for advanced PD with MER guidance is possible and reliable under a ketamine-based anesthetic protocol.

Significance: General anesthesia can be proposed for those patients who do not accept an "awake surgery" for clinical reasons, such as excessive fear, poor cooperation or severe "off"-medication effects.
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http://dx.doi.org/10.1016/j.clinph.2012.04.027DOI Listing
December 2012

Lack of association of PON polymorphisms with sporadic ALS in an Italian population.

Neurobiol Aging 2011 Mar 9;32(3):552.e7-13. Epub 2010 Apr 9.

Department of Neuroscience-Neurology Section, University of Siena, Siena, Italy.

Paraoxonase (PON) gene polymorphisms have been associated with susceptibility to sporadic amyotrophic lateral sclerosis (ALS). We have investigated the role of the previously associated single nucleotide polymorphisms rs854560, rs662, and rs6954345 in 350 ALS patients and 376 matched controls from Italy. No significant association was observed at genotype and haplotype level. Our data suggest that PON polymorphisms are not involved in ALS pathogenesis in an Italian population.
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http://dx.doi.org/10.1016/j.neurobiolaging.2010.02.010DOI Listing
March 2011

The accuracy of discharge diagnosis coding for Amyotrophic Lateral Sclerosis in a large teaching hospital.

Eur J Epidemiol 2009 6;24(10):635-40. Epub 2009 Aug 6.

Institute of Hygiene and Epidemiology, DPMSC, Azienda Ospedaliero-Universitaria di Udine, Via Colugna 40, 33100, Udine, Italy.

To evaluate the accuracy of hospital discharge data as a source of Amyotrophic Lateral Sclerosis (ALS) cases for epidemiological studies or disease registries, a validation study was performed. All records of patients discharged in 2005 and 2006 with principal or secondary International Classification of Diseases, 9th rev., Clinical Modification (ICD 9 CM) diagnosis code of ALS (335.20), other anterior horn cell disease (335), spinal cord disease (336), hereditary and idiopathic peripheral neuropathy (356), inflammatory and toxic neuropathy (357), myoneural disorders (358), muscular dystrophies and myopathies (359), were selected from the electronic archive of discharge data of the University Hospital of Udine, Friuli Venezia Giulia Region, North East Italy. Corresponding clinical documentation was reviewed to ascertain the presence of El Escorial criteria, the gold standard. Sensitivity of the ICD 9 CM discharge code 335.20 was 93% (95%CI: 82-99%) and decreased to 91% (95%CI: 77-98%) when suspect ALS was excluded. Specificity was 99% (95%CI: 97-99%). The ICD 9 CM discharge code 335.20 can identify a high percentage of hospitalizations of patients truly affected by ALS and of patients with no ALS, among selected neurological diagnostic codes. To ensure complete ALS case ascertainment, prospective population-based registries or epidemiologic studies require active prospective surveillance and use of multiple sources, among them hospital discharge archives can provide accurate information.
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http://dx.doi.org/10.1007/s10654-009-9376-1DOI Listing
November 2009