Publications by authors named "Alessandra Ariatti"

27 Publications

  • Page 1 of 1

Next-generation sequencing application to investigate skeletal muscle channelopathies in a large cohort of Italian patients.

Neuromuscul Disord 2020 Dec 14. Epub 2020 Dec 14.

Neurology IV Unit, Neuroimmunology and Neuromuscular Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

Non-dystrophic myotonias and periodic paralyses are a heterogeneous group of disabling diseases classified as skeletal muscle channelopathies. Their genetic characterization is essential for prognostic and therapeutic purposes; however, several genes are involved. Sanger-based sequencing of a single gene is time-consuming, often expensive; thus, we designed a next-generation sequencing panel of 56 putative candidate genes for skeletal muscle channelopathies, codifying for proteins involved in excitability, excitation-contraction coupling, and metabolism of muscle fibres. We analyzed a large cohort of 109 Italian patients with a suspect of NDM or PP by next-generation sequencing. We identified 24 patients mutated in CLCN1 gene, 15 in SCN4A, 3 in both CLCN1 and SCN4A, 1 in ATP2A1, 1 in KCNA1 and 1 in CASQ1. Eight were novel mutations: p.G395Cfs*32, p.L843P, p.V829M, p.E258E and c.1471+4delTCAAGAC in CLCN1, p.K1302R in SCN4A, p.L208P in ATP2A1 and c.280-1G>C in CASQ1 genes. This study demonstrated the utility of targeted next generation sequencing approach in molecular diagnosis of skeletal muscle channelopathies and the importance of the collaboration between clinicians and molecular geneticists and additional methods for unclear variants to make a conclusive diagnosis.
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http://dx.doi.org/10.1016/j.nmd.2020.12.003DOI Listing
December 2020

Predictors of prognosis in type 1 myotonic dystrophy (DM1): longitudinal 18-years experience from a single center.

Acta Myol 2020 Sep 1;39(3):109-120. Epub 2020 Sep 1.

Department of Biomedical, Metabolic and Neural Sciences, University Hospitals of Modena, Italy.

The aim of the study was to identify possible predictors of neurological worsening and need of non-invasive ventilation (NIV) in individuals affected by myotonic dystrophy type 1 (DM1), the most common form of adult-onset muscular dystrophy.

Methods: A retrospective observational cohort study was undertaken. Thirty-three patients with genetic diagnosis of DM1 were followed at our Neuromuscular unit in Modena. Abnormal trinucleotide repeat (CTG) expansion of dystrophy protein kinase gene (MDPK) on chromosome 19q 13.3 was the prerequisite for inclusion. The number of CTG repeats was determined. All the participants were older than 14 at the time of enrolment, therefore they could be included into the juvenile or adult form of the disease. Participants were neurologically evaluated every 6-8 months up to 18 years. Neurological impairment was assessed by Muscular Impairment Rating (MIRS), Medical Research Council (MRC), and modified Rankin (mRS) scales. The independent variables considered for prognosis were age at first evaluation, duration of the disease, CTG repeat number, gender, and presence of cardiac and vascular morbidities.Male patients were 51.5% and female patients 48.5%. Sixteen patients were younger than the mean age of 30.1 years, while the remaining 17 were up to 65. Twelve subjects (36.4%) underwent NIV before the end of follow-up. Muscle force and disability scores showed statistically significant deterioration (p < 0.001) during follow-up. The worsening was significantly higher among patients carrying higher number of CTG repeats and of younger age. The presence of cardio-vascular involvement has significant impact on neurological and respiratory progression.Neurological worsening is predicted by CTG expansion size, young age and presence of cardio-vascular morbidities.
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http://dx.doi.org/10.36185/2532-1900-015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7711325PMC
September 2020

Estimating the impact of COVID-19 pandemic on services provided by Italian Neuromuscular Centers: an Italian Association of Myology survey of the acute phase.

Acta Myol 2020 Jun 1;39(2):57-66. Epub 2020 Jun 1.

Dino Ferrari Centre, Department of Pathophysiology and Transplantation (DEPT), Neuroscience Section, University of Milan, Italy.

Introduction: Since February 2020, the outbreak of COVID-19 in Italy has forced the health care system to undergo profound rearrangements in its services and facilities, especially in the worst-hit areas in Northern Italy. In this setting, inpatient and outpatient services had to rethink and reorganize their activities to meet the needs of patients during the "lockdown". The Italian Association of Myology developed a survey to estimate the impact of these changes on patients affected by neuromuscular disorders and on specialized neuromuscular centers during the acute phase of COVID-19 pandemic.

Methods: We developed an electronic survey that was sent to neuromuscular centers affiliated with the Italian Association of Myology, assessing changes in pharmacological therapies provision, outpatient clinical and instrumental services, support services (physiotherapy, nursing care, psychological support) and clinical trials.

Results: 40% of surveyed neuromuscular centers reported a reduction in outpatient visit and examinations (44.5% of centers in Northern regions; 25% of centers in Central regions; 50% of centers in Southern regions). Twenty-two% of centers postponed in-hospital administration of therapies for neuromuscular diseases (23.4% in Northern regions; 13.0% in Central regions; 20% in Southern regions). Diagnostic and support services (physiotherapy, nursing care, psychological support) were suspended in 57% of centers (66/43/44% in Northern, Central and Southern centers respectively) Overall, the most affected services were rehabilitative services and on-site outpatient visits, which were suspended in 93% of centers. Strategies adopted by neuromuscular centers to overcome these changes included maintaining urgent on-site visits, addressing patients to available services and promoting remote contact and telemedicine.

Conclusions: Overall, COVID-19 pandemic resulted in a significant disruption of clinical and support services for patients with neuromuscular diseases. Despite the efforts to provide telemedicine consults to patients, this option could be promoted and improved further. A close collaboration between the different neuromuscular centers and service providers as well as further implementation of telehealth platforms are necessary to ensure quality care to NMD patients in the near future and in case of recurrent pandemic waves.
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http://dx.doi.org/10.36185/2532-1900-008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7460733PMC
June 2020

Predictors of respiratory decline in myotonic dystrophy type 1 (DM1): a longitudinal cohort study.

Acta Neurol Belg 2020 Jul 10. Epub 2020 Jul 10.

Neurology Unit, Department of Biomedical, Metabolic and Neural Sciences, University Hospitals of Modena, Via P. Giardini, 1355, Modena, Italy.

We studied 33 patients affected by juvenile and adult myotonic dystrophy type 1 (DM1). The aim of the study was to assess clinical and laboratory parameters that could predict the requirement of noninvasive ventilation (NIV) in DM1. Secondary outcome was to assess the interplay between genetic profile, muscle impairment severity and presence of cardiac comorbidities.Patients with genetic diagnosis of DM1 were recruited. An abnormal trinucleotide repeat (CTG) expansion of dystrophy protein kinase gene (DMPK) on chromosome 19q13.3 was the prerequisite for inclusion. The number of triplet repeats was measured in genomic DNA to classify subjects. A multidisciplinary team evaluated the patients every 6-8 months up to 18 years with serial cardiological and respiratory function assessments. Neurological progression was monitored using a validated DM1-specific rating scale (MIRS). Independent variables considered for the study outcomes were gender, genetic status, age of presentation, MIRS scores, and results of pulmonary function tests (PFTs).Patients were 17 males (51.5%) and 16 females (48.5%). 16 cases were younger than mean age of 31.4 years, the remaining 17 were up to 65. 12 subjects (36.4%) underwent NIV during follow up. Cardiac comorbidities were detected in 63.6% of cases and in 91% of patients in NIV. Among PFTs, forced vital capacity (FVC) was a reliable indicator of respiratory decline. FVC values were significantly associated with clinical muscle severity assessed by MIRS.Severity of muscular impairment, CTG expansion size, age and presence of cardiac comorbidities predict respiratory impairment in DM1.
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http://dx.doi.org/10.1007/s13760-020-01425-zDOI Listing
July 2020

Clinical and neuroradiological notes on non-extrapyramidal bent spine syndrome.

Acta Neurol Belg 2020 Jun 30;120(3):725-727. Epub 2019 Oct 30.

Radiology Unit, Villa Salus, Reggio-Emilia, Italy.

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http://dx.doi.org/10.1007/s13760-019-01229-wDOI Listing
June 2020

Long-Standing evolution of paraneoplastic cerebellar degeneration in a diffuse large B-cell lymphoma.

J Neurol Sci 2019 01 8;396:184-186. Epub 2018 Nov 8.

Institute of General Pathology, University Hospitals of Modena, Italy.

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http://dx.doi.org/10.1016/j.jns.2018.11.009DOI Listing
January 2019

Antibody profile may predict outcome in ocular myasthenia gravis.

Acta Neurol Belg 2018 Sep 1;118(3):435-443. Epub 2018 Jun 1.

Department of Biomedical, Metabolic and Neural Sciences, University Hospital, Modena, Italy.

An unsolved issue remains whether there are clinical and immunological features to predict in a single patient the risk of conversion from ocular Myasthenia Gravis (OMG) to generalized disease (GMG) as 50-60% of patients may progress within 1-2 years since onset. Anti-acetylcholine receptor antibodies (AChR Abs) are found in up to 50% of OMG patients; muscle-specific tyrosine kinase antibodies (MuSK-Abs) are present in about 70% of the whole seronegative (SN), who usually develop a severe disease with bulbar involvement. We surveyed a cohort of 175 OMG patients with purely ocular symptoms and we compare the outcome of patients with antibodies to AChR or to MuSK with those seronegative for both Abs (DSN). All patients had purely ocular signs for at least 24 months. Gender, age at onset, time to generalization or to worsening in quantitative ocular QMG scores, electrophysiological results were analyzed. Males were 58.9%, females 41.1%. Patients with late onset of symptoms after 50 years (LOMG) were 78.3%. We assayed anti-MuSK-Abs in 4.7%, anti-AChR Abs in 38.5%; 57.3% were defined DSN. Thirty-seven patients (21.1%) progressed to GMG during the observational time: 23 were females, 62% of the whole group of the generalized subjects, 75% of MuSK-positive OMG converted to GMG versus the 26.2% of AChR positive and 13.7% of DSN. Statistical analysis showed that gender and presence of antibodies either to AChR or to MuSK were independent predictors of worse outcome; the DSN subjects had lower risk of conversion to GMG.
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http://dx.doi.org/10.1007/s13760-018-0943-7DOI Listing
September 2018

Comment on "Lumbar MRI Findings in Guillain-Barré Syndrome".

Spine J 2018 04;18(4):713-714

Neuroradiology Unit, University Hospitals of Modena and Reggio Emilia, Modena, Italy.

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http://dx.doi.org/10.1016/j.spinee.2017.11.021DOI Listing
April 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

Early imaging in paraparetic Guillain-Barré syndrome.

Acta Neurol Belg 2020 Apr 31;120(2):453-454. Epub 2017 Oct 31.

Neuroradiology Service, University Hospitals of Modena, Modena, Italy.

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http://dx.doi.org/10.1007/s13760-017-0854-zDOI Listing
April 2020

Reply to the letter by Finsterer et al. concerning the paper: "Affection of immune-cells by a C10orf2 mutation manifesting as mitochondrial myopathy and transient sensory transverse syndrome" by Galassi G. et al.

Acta Neurol Belg 2017 12 28;117(4):971-972. Epub 2017 Aug 28.

Neuroradiology Service, University Hospitals of Modena, Modena, Italy.

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http://dx.doi.org/10.1007/s13760-017-0822-7DOI Listing
December 2017

Factors affecting outcome in ocular myasthenia gravis.

Int J Neurosci 2018 Jan 17;128(1):15-24. Epub 2017 Jul 17.

a Department of Biomedical, Metabolic and Neural Sciences , University Hospital , Modena , Italy.

Aim Of The Study: 50%-60% of patients with ocular myasthenia gravis (OMG) progress to generalized myasthenia gravis (GMG) within two years. The aim of our study was to explore factors affecting prognosis of OMG and to test the predictive role of several independent clinical variables.

Materials And Methods: We reviewed a cohort of 168 Caucasian patients followed from September 2000 to January 2016. Several independent variables were considered as prognostic factors: gender, age of onset, results on electrophysiological tests, presence and level of antibodies against acetylcholine receptors (AChR Abs), treatments, thymic abnormalities. The primary outcome was the progression to GMG and/or the presence of bulbar symptoms. Secondary outcomes were either achievement of sustained minimal manifestation status or worsening in ocular quantitative MG subscore (O-QMGS) or worsening in total QMG score (T-QMGS), assessed by Myasthenia Gravis Foundation of America (MGFA) quantitative scores. Changes in mental and physical subscores of health-related quality of life (HRQoL) were assessed with SF-36 questionnaire. Variance analysis was used to interpret the differences between AChR Ab titers at different times of follow up among the generalized and non-generalized patients.

Results: Conversion to GMG occurred in 18.4% of patients; it was significantly associated with sex, later onset of disease and anti-AChR Ab positivity. Antibody titer above the mean value of 25.8 pmol/mL showed no significant effect on generalization. Sex and late onset of disease significantly affected T-QMGS worsening. None of the other independent variables significantly affected O-QMGS and HRQoL.

Conclusions: Sex, later onset and anti-AChR Ab positivity were significantly associated with clinical worsening.
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http://dx.doi.org/10.1080/00207454.2017.1344237DOI Listing
January 2018

C10ORF2 mutation associated with progressive external ophthalmoplegia and clinically isolated syndrome.

Acta Neurol Belg 2017 12 20;117(4):947-949. Epub 2017 May 20.

Neuroradiology Service, University Hospitals of Modena, Modena, Italy.

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http://dx.doi.org/10.1007/s13760-017-0793-8DOI Listing
December 2017

Long-term disability and prognostic factors in polyneuropathy associated with anti-myelin-associated glycoprotein (MAG) antibodies.

Int J Neurosci 2017 May 7;127(5):439-447. Epub 2016 Jun 7.

a Department of Biomedical, Metabolic and Neural Science , University of Modena & Reggio Emilia , Modena , Italy.

Aim Of The Study: Neuropathy associated with IgM monoclonal gammopathy (MGUS) represents distinctive clinical syndrome, characterized by male predominance, late age of onset, slow progression, predominantly sensory symptoms, deep sensory loss, ataxia, minor motor impairment. More than 50% of patients with neuropathy-associated MGUS possess antibodies against myelin-associated glycoprotein (MAG). Purpose of our study was to assess effects on disease progression of demographic, clinical and neurophysiological variables in our large cohort of patients.

Materials And Methods: Forty-three Caucasians patients were followed every eight months for median duration time of 93 months. Extremity strength was assessed with Medical Research Council (MRC) Scale, disability with overall disability status scale (ODSS), modified Rankin Scale and sensory function with Inflammatory Neuropathy Cause and Treatment (INCAT) sensory scale (ISS). Statistical analyses were conducted with parametric or non-parametric measures as appropriate. Survival analysis was used to test predictive value of clinical, demographical and neurophysiological variables. Variance analysis was conducted to explain difference on MRC between patients and groups at different time from onset.

Results: Results showed that demyelinating pattern, older age and absence of treatment were significant risk factors for disability worsening. No other factors emerged as predictors including gender, ataxia and tremor at baseline, level of anti-MAG and IgM protein concentration in serum. Despite worsening of all outcome measures between first and last visit, quality of life (HRQol) judged by patients did not vary significantly.

Conclusions: Our study provides evidence that electrophysiologic pattern, age of onset and absence of treatment are strong predictor of prognosis in anti-MAG polyneuropathy.
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http://dx.doi.org/10.1080/00207454.2016.1191013DOI Listing
May 2017

Longitudinally extensive transverse myelitis associated with amphiphysin autoimmunity and breast cancer: a paraneoplastic accompaniment.

Acta Neurol Belg 2016 Sep 10;116(3):395-7. Epub 2015 Sep 10.

Institute of Pathology, University of Modena, Modena, Italy.

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http://dx.doi.org/10.1007/s13760-015-0534-9DOI Listing
September 2016

Optic nerve involvement in retinal migraine.

Headache 2015 Apr 23;55(4):562-4. Epub 2014 Dec 23.

Unit of Neurology, AUSL Modena - Università degli studi di Modena e Reggio Emilia, NOCSAE Hospital, Modena, Italy.

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http://dx.doi.org/10.1111/head.12481DOI Listing
April 2015

Prognostic factors and health-related quality of life in ocular Myasthenia Gravis (OMG).

Int J Neurosci 2014 Jun 19;124(6):427-35. Epub 2013 Nov 19.

Department of Neurosciences, and Department of Onco-Haematology, University Hospitals of Modena & Reggio Emilia , Italy.

We evaluate the factors predictive of prognosis in 91 Caucasian patients affected by ocular myasthenia gravis (OMG), followed at our Institution during an observational time, ranging from 12 to 240 months. The Myasthenia Gravis Foundation of America (MGFA) clinical classification was used to grade the disease severity. We considered as outcome measures the variation in two subscores, ocular (O-QMG) and nonocular (NO-QMG); the last one reflected bulbar, neck, extremity functions. None of the independent variables evaluated for association with the outcome, as age of onset, type of therapy, length of interval between first and last examinations, and presence of antibodies to acetylcholine receptors (AChR-Abs) significantly affected the evolution of O-QMG and of NO-QMG. Health-related quality of life (HRQol) was assessed in 63 patients. Variations of diplopia or ptosis did not affect significantly physical (PCS) or mental composite subscores (MCS) of the Short-Form Health Survey (SF-36). Human leukocyte antigen (HLA) genotyping was studied to explore whether HLA class I and II allelic distribution differed among MG patients and controls. None of the studied HLA alleles significantly differed between OMG patients and controls. Similarly, none of the alleles with frequencies higher than 15% either in OMG patients or in controls was significantly associated, after Bonferroni correction, with the presence or absence of anti-AChR-Abs in serum.
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http://dx.doi.org/10.3109/00207454.2013.853664DOI Listing
June 2014

A heroin addict with focal weakness.

Acta Myol 2013 May;32(1):27-9

Department of Neurosciences, University Hospital, Modena, Italy.

A 24-year-old female with 5 year history of heroin abuse experienced painless stiffness of elbow joints and weakness of shoulder and upper limb muscles. She was injecting herself 4-6 times daily alternatively in the upper extremities, sparing the lower limbs. Electromyography (EMG) showed myopathic changes in clinically affected and unaffected muscles. Magnetic resonance imaging (MRI) revealed muscle fibrosis in directly injected muscles, whereas in subcutaneous fat and within muscles of anterior and posterior compartments of both thighs, not directly injected, there were signal changes supportive of oedema and inflammation. EMG and MRI were congruent in showing abnormalities in muscles not directly injected, suggesting long distant effects of heroin or adulterants with a mechanism either toxic or immunologically mediated.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3665371PMC
May 2013

Concurrent chronic motor axonal polyneuropathy and synaptic impairment of neuromuscular junction.

J Clin Neuromuscul Dis 2011 Jun;12(4):223-6

Department of Neurology, University of Modena & Reggio Emilia, Modena, Italy.

Polyneuropathies may exhibits clinical, electrophysiologic signs of neuromuscular junction impairment. Distal motor nerve terminals and neuromuscular junction contain pre or postsynaptically specific targets for circulating autoantibodies, if present in neuropathies. Motor nerve terminal blockade either reversible or permanent is a putative factor of muscle weakness. A 59-year-old patient exhibited oropharyngeal, facial, extremity weakness, fluctuating fatigability, and areflexia. Elecectrophysiologic studies showed purely motor axonal polyneuropathy. Thenar, facial slow rate repetitive stimulation revealed up to 47% decrement of compound muscle action potential size. Single fiber electromyography on voluntary activation confirmed increased jitter and impulse blocking in all muscles examined in one third of the fibers. Repeated testings for antibodies to gangliosides, acetylcholine, muscle tyrosine kinase receptors, voltage-gated calcium channels were negative. Oral pyridostigmine bromide improved bulbar symptoms. Pulse intravenous immunoglobulin, oral steroids, and azathioprine had steady benefit. Impairment of neuromuscular transmission if occurring in chronic axonal neuropathies highlights mechanisms and significance of neuromuscular chronic "synaptopathies."
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http://dx.doi.org/10.1097/CND.0b013e3181df2b18DOI Listing
June 2011

Fulminant multifocal motor neuropathy: a report of two cases.

Int J Neurosci 2012 Jul 27;122(7):395-400. Epub 2012 Feb 27.

Departments of Neurosciences, University Hospital Modena, Italy.

Multifocal motor neuropathy (MMN) shows stepwise progression over decades. The multifocal weakness usually remains asymmetric, confined to distal limb muscles, while sparing cranial, phrenic, and sensory nerves. One electrophysiological hallmark is partial motor conduction block (CB) at sites not exposed to compression; whether CB is an essential feature remains debatable. High titer of anti-GM1 antibodies is found with figures usually between 40% and 50% of patients. Intravenous immuneglobulin (IVIg) is effective in almost 80%, but plasmapheresis and steroids are not. The condition is reported as lethal exceptionally, mimicking motor neuron diseases (MND). We have studied two patients who failed to respond to treatment and who died with respiratory failure; one of the two had high titer of IgM antibody to the ganglioside GM1. Our cases confirm that great attention should be paid in order to define the borderland between MMN and MND and the entity of their clinical and electrophysiological overlaps.
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http://dx.doi.org/10.3109/00207454.2012.660587DOI Listing
July 2012

Non-convulsive status epilepticus of frontal origin as the first manifestation of Hashimoto's encephalopathy.

Epileptic Disord 2011 Sep;13(3):253-8

Department of Neurosciences, University of Modena and Reggio Emilia, Modena, Italy.

Hashimoto's encephalopathy is an often misdiagnosed, life threatening, condition which improves promptly with steroid therapy. Since clinical manifestations are heterogeneous and non-specific, the diagnosis is often difficult. Several case reports of Hashimoto's encephalopathy presenting with partial or generalised seizures are described, but only a few have focused on status epilepticus as the first clinical manifestation. We report two patients presenting with repetitive and prolonged seizures characterised by progressive reduction in contact and reactivity associated with frontal/diffuse polyspike-and-wave activities. This condition, which can be interpreted as a form of non-convulsive status epilepticus (NCSE) of frontal origin, was refractory to antiepileptic drugs but responded promptly to high doses of intravenous steroid treatment. In cases of unexplained encephalopathy with EEG documentation of NCSE, the early recognition and treatment of Hashimoto's encephalopathy may lead to a favourable prognosis. [Published with video sequences].
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http://dx.doi.org/10.1684/epd.2011.0457DOI Listing
September 2011

Lambert-Eaton myasthenic syndrome associated with intravascular uterine leiomyoma.

Eur J Obstet Gynecol Reprod Biol 2011 Nov 8;159(1):230-1. Epub 2011 Jul 8.

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http://dx.doi.org/10.1016/j.ejogrb.2011.06.008DOI Listing
November 2011

Parvovirus B19 infection antedating Guillain-Barre' syndrome variant with prominent facial diplegia.

J Neurol 2011 Aug 15;258(8):1551-2. Epub 2011 Feb 15.

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http://dx.doi.org/10.1007/s00415-011-5949-5DOI Listing
August 2011

Comment on myasthenia gravis associated with TNF-alpha receptor blockers: A multifaceted issue.

Muscle Nerve 2010 Aug;42(2):296-8; author reply 298

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http://dx.doi.org/10.1002/mus.21748DOI Listing
August 2010

Focal sensory-motor status epilepticus in multiple sclerosis due to a new cortical lesion. An EEG-fMRI co-registration study.

Seizure 2010 Oct 17;19(8):525-8. Epub 2010 Jul 17.

Department of Neuroscience, Nuovo Ospedale Civile S.Agostino-Estense, University of Modena and Reggio Emilia, Via Giardini, 41100 Modena, Italy.

A case of focal inferior limb sensory-motor status epilepticus as the only manifestation of a multiple sclerosis (MS) relapse is described. To obtain evidence of the relationship between the seizures, the cortical plaque and the left foot motor area, an EEG-fMRI co-registration study was undertaken demonstrating that seizure-related BOLD signal substantially overlapped with the inflammatory lesion involving the foot sensory-motor cortex. Seizures did not respond to intravenous anti-epileptic drugs (AEDs) but were controlled by steroid therapy.
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http://dx.doi.org/10.1016/j.seizure.2010.06.015DOI Listing
October 2010

Coincident chronic inflammatory demyelinating polyneuropathy and focal segmental glomerulosclerosis: a common autoimmunity?

Clin Exp Nephrol 2010 Jun 6;14(3):294-5. Epub 2010 Jan 6.

A 40-year-old male developed swallowing difficulties, loss of strength, and imbalance. On admission, the patient exhibited bifacial, extremity weakness, ataxia, impaired sensation, and areflexia. Electrophysiology and nerve biopsy suggested demyelination. Spinal fluid revealed increased protein content. Plasmapheresis showed benefit, but neuropathy relapsed. At second recurrence, urine analysis showed heavy proteinuria. Renal biopsy revealed focal segmental glomerulosclerosis (FSGS). Methylprednisolone and oral cyclophosphamide were given. Long-term steroids and immunoglobulin showed steady benefit. Concurrence of chronic inflammatory demyelinating polyneuropathy and FSGS suggests synergistic cellular and humoral autoimmune mechanisms related to either cross-reactivity within antigenic targets or mimicry between neural and renal epitopes.
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http://dx.doi.org/10.1007/s10157-009-0259-2DOI Listing
June 2010

Recognition of emotions from visual and prosodic cues in Parkinson's disease.

Neurol Sci 2008 Sep 20;29(4):219-27. Epub 2008 Sep 20.

Department of Neurosciences, University of Modena and Reggio Emilia, Nuovo Ospedale Civile Sant'Agostino-Estense Via Giardini, Modena, Italy.

Objective: To assess whether Parkinson Disease (PD) patients are impaired at perceiving emotions from facial and prosodic cues and whether any putative defective performance concerns recognition of a particular emotion.

Background: Braak et al. [1] demonstrated that in different stages PD pathology involves the nigrostriatal system, the amygdala, and the insular cortex. Discrete brain lesions to these structures can cause selective deficits in recognising facial and prosodic stimuli expressing particular emotions. However, the investigation of facial and prosodic emotional processing in PD patients has lead to conflicting results.

Materials And Methods: We compared 27 cognitively unimpaired PD patients with control subjects by means of the Facial Emotion Recognition Battery and the Emotional Prosody Recognition Battery.

Results: PD patients were impaired in recognising, selecting, and matching facial affects. In particular, the Facial Emotion Recognition Battery demonstrated a severe impairment in recognising sad and fearful faces. In the Emotional Prosody Recognition Battery PD patients demonstrated a diffuse impairment, including the recognition of emotional and propositional prosody.

Conclusions: Face emotion processing is impaired in PD patients, with a disproportionate deficit involving fear and sadness. The pattern of face expression processing impairment in PD patients might depend on the regional distribution of the pathology. The widespread involvement of both emotional and propositional prosodic processing parallels the aprosodic characteristics of Parkinsonian speech production.
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http://dx.doi.org/10.1007/s10072-008-0971-9DOI Listing
September 2008