Moschiano F.,National Institute of Neurology |
D'Amico D.,C Besta Neurological Institute And Foundation |
Cotta Ramusino M.,National Institute of Neurology |
Micieli G.,National Institute of Neurology
Neurological Sciences | Year: 2013
Several dietary habits and lifestyles can be associated with different headache types or with their progression to chronic forms. Different population-based studies have tried to investigate this relationship with poor or contradictory results. We shortly reported the current knowledges available in literature in this regard, paying particular attention to the role that certain factors play in modifying frequency and intensity of headache in adults and in adolescents. Future studies are necessary to clarify the real weight which the different factors have in natural history and in clinic evolution of headache, especially in adolescence, but the already known data suggest an important modulating action. If they will be confirmed, these results will be likely to influence clinical practice as well to address educational programs in preadolescents and adolescents. © Springer-Verlag Italia 2013.
Andrade-Machado R.,National Institute of Neurology |
Ochoa-Urrea M.,National Institute of Neurology |
Garcia-Espinosa A.,Mental Health Center |
Benjumea-Cuartas V.,National Institute of Neurology |
Santos-Santos A.,National Institute of Neurology
Epilepsy and Behavior | Year: 2015
Objectives: We aim to study the frequency of (suicidal ideation) in patients with focal refractory epilepsy and its possible association with factors such as perceived QOL (quality of life) and ASDD (affective somatoform dysphoric disorder) using the 2007 ILAE proposal to classify affective disorders of epilepsy. Methods: A total sample of 82 patients was divided into two groups depending on the presence of suicidal risk: (A) study group - with suicidal risk and (B) control group - without suicidal risk. Questionnaires, scales, interviews, and clinical charts were evaluated by professionals with expertise in neurology and epileptology (RAM and AGA), psychiatry (AGE), and neuropsychology (FGR). Suicidal risk was evaluated with the M.I.N.I. (Mini-International Neuropsychiatric Interview) suicidal module that specifies the current suicidal risk based on scores. Quality of life was evaluated with the Quality of Life in Epilepsy Inventory - 31 (QOLIE-31) survey. Logistic regression was conducted to ascertain if ASDD and QOL significantly predicted suicidal risk. The results were considered statistically significant when the p-value was <. 0.05. Results: Suicidal risk was present in 33 (40.3%) patients. It was classified as severe in 31.7% of the patients, and it was only present in cases with temporal lobe epilepsy (p=0.002). More than half (52%) of patients with ASDD had risk of suicide (p=0.006). The presence of ASDD was found to be a risk factor for suicidal risk (OR=3.86; IC=1.3-12.2). Patients with suicidal risk had a lower QOL score compared with patients without suicidal risk (57.8±16.9 vs. 46.0±18.2; p<0.05), and an affected QOL significantly increased suicidal risk (OR=2.9; CI=1.3-7.8). Multivariate analysis demonstrated that an impaired QOL (OR=2.2) and the presence of ASDD (OR=4.1) significantly increased the probability of having suicidal risk (x2=13.6; OR=5.2; p=0.009). Significance: Affective somatoform dysphoric disorder and low QOL perception increase, independently, the risk of suicide. © 2015.
Er T.-K.,Kaohsiung Medical University |
Liang W.-C.,Kaohsiung Medical University |
Liang W.-C.,National Institute of Neurology |
Chang J.-G.,Kaohsiung Medical University |
Jong Y.-J.,Kaohsiung Medical University
Clinica Chimica Acta | Year: 2010
Background: Multiple acyl-CoA dehydrogenase deficiency (MADD) or gluaric aciduria type II is an autosomal recessive disease caused by defects in mitochondrial electron transfer system and metabolism of fatty acid. Recently, ETFDH mutations were reported to be major causes of riboflavin-responsive MADD. The present study is aimed at screening ETFDH mutations. Methods: High resolution melting (HRM) analysis was performed to screen ETFDH mutations. Genomic DNA was extracted from peripheral blood samples of the 9 patients with MADD and normal controls. Total 13 exons of ETFDH were screened by HRM analysis. The results were subsequently confirmed by direct DNA sequencing. Results: This diagnostic strategy proved to be feasible in detecting 3 known (c.250G > A, c380T > A, c.524G > T) and 1 novel (c.1831G> A) ETFDH mutations. Each mutation could be readily and accurately identified in the difference plot curves. We estimated the carrier frequency of the hotspot mutation, c.250G> A, in the Taiwanese population to be 1:125 (0.8%). Conclusions: HRM analysis can be successfully applied to screen ETFDH mutations. Since riboflavin-responsive MADD is often treatable, especially with mutations in ETFDH, identifying ETFDH mutations is crucial for these patients. © 2010 Elsevier B.V.
Hammer M.B.,U.S. National Institute on Aging |
Hammer M.B.,National Institute of Neurology |
Eleuch-Fayache G.,National Institute of Neurology |
Schottlaender L.V.,University College London |
And 19 more authors.
American Journal of Human Genetics | Year: 2013
Autosomal-recessive cerebellar ataxia (ARCA) comprises a large and heterogeneous group of neurodegenerative disorders with more than 20 different forms currently recognized, many of which are also associated with increased tone and some of which have limb spasticity. Gaucher disease is a lysosomal storage disease resulting from a defect in the enzyme acid β-glucosidase 1. β-glucosidase 2 is an enzyme with similar glucosylceramidase activity but to date has not been associated with a monogenic disorder. We studied four unrelated consanguineous families of Tunisian decent diagnosed with cerebellar ataxia of unknown origin. We performed homozygosity mapping and whole-exome sequencing in an attempt to identify the genetic origin of their disorder. We were able to identify mutations responsible for autosomal-recessive ataxia in these families within the gene encoding β-glucosidase 2, GBA2. Two nonsense mutations (c.363C>A [p.Tyr121] and c.1018C>T [p.Arg340]) and a substitution (c.2618G>A [p.Arg873His]) were identified, probably resulting in nonfunctional enzyme. This study suggests GBA2 mutations are a cause of recessive spastic ataxia and responsible for a form of glucosylceramide storage disease in humans. © 2013 The American Society of Human Genetics.
San-Juan D.,National Institute of Neurology |
Del Castillo Calcaneo J.D.D.,National Institute of Neurology |
Gonzalez-Aragon M.F.,National Institute of Neurology |
Bermudez Maldonado L.,National Institute of Neurology |
And 3 more authors.
Epilepsy and Behavior | Year: 2011
Rasmussen's encephalitis is a rare, progressive inflammatory disease that typically affects one cerebral hemisphere and causes intractable partial-onset seizures. Currently, the only effective therapy is hemispherectomy; however, this procedure is associated with irreversible neurological deficits. Novel therapeutic approaches to this condition are therefore necessary. One possible option that has not yet been extensively studied is electrical cathodal transcranial direct current stimulation (cTDCS). We describe the cases of two patients with atypical-onset Rasmussen's encephalitis who underwent cTDCS at 1- and 2-mA intensity for 60. minutes in four sessions (on days 0, 7, 30, and 60). No complications were recorded during their therapy. At follow-up evaluations 6 and 12. months later, one patient had a significant reduction in seizure frequency and one was seizure free. Additionally, both patients had improved levels of alertness and language. This is the first time that cTDCS has been applied in serial sessions to treat Rasmussen's encephalitis to avoid or delay surgical treatment. © 2010 Elsevier Inc.
Arauz A.,National Institute of Neurology |
Ruiz A.,National Institute of Neurology |
Pacheco G.,National Institute of Neurology |
Rojas P.,National Institute of Neurology |
And 5 more authors.
European Journal of Neurology | Year: 2013
Background and purpose: To evaluate the incidence and predictors of ischaemic recurrent stroke and the adverse events of antithrombotic therapy in patients with first intra- or extracranial vertebral artery dissection (VAD) who were treated with aspirin or oral anticoagulation (OA). Methods: A 21-year database of consecutive patients with confirmed diagnoses of VAD (n = 110, 63% men; mean age 37.9 ± 8.5 years) without intracerebral hemorrhage and who were treated with aspirin or OA were analyzed retrospectively. In all cases, the admission diagnosis was ischaemic stroke. Three groups were defined according to the site of the dissection: (i) extracranial, (ii) intracranial, and (iii) intra-/extracranial. Clinical follow-up was obtained by neurologic examination. Outcome measures were (i) recurrent ischaemic events (ischaemic stroke or transient ischaemic attack) and (ii) intra- and extracranial major bleeding. Results: No difference in age, smoking, or hypertension was found between patients treated with OA (n = 49) and those treated with aspirin (n = 50). Extracranial artery dissection (49%) had preponderance over intracranial (27%) or intra-/extracranial (23%) location. During the follow-up, recurrent ischaemic events were rare (one case). There were no bleeding complications. The treatment that was used did not influence the functional outcome or recanalization. A good functional outcome (modified Rankin score ≤ 2) was observed in 82 patients. Conclusions: Although this was a non-randomized study, our data suggest that the frequency of recurrent ischaemic stroke in patients with intra- or extracranial VAD is low and most likely independent of the type of antithrombotic treatment. © 2012 The Author(s) European Journal of Neurology © 2012 EFNS.
Bouhlal Y.,University of South Dakota |
Amouri R.,National Institute of Neurology |
El Euch-Fayeche G.,National Institute of Neurology |
Hentati F.,National Institute of Neurology
Parkinsonism and Related Disorders | Year: 2011
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a distinct form of hereditary early-onset spastic ataxia related to progressive degeneration of the cerebellum and spinal cord. Following the description of the first patients in 1978, the gene responsible has been mapped and identified. It was also shown that the disease occurred worldwide with more than 70 mutations and diverse phenotypes. Because of the random partition of these mutations in the SACS gene particularly on the largest exon nine, and due to the significant clinical variability between patients described in different countries, it has been difficult to establish a genotype-phenotype correlation for the disease. This paper reviews the broad clinical features and the various molecular aspects of ARSACS, reported over the last 30 years highlighting the difficulty of finding correlations. © 2011 Elsevier Ltd.
Danaila L.,National Institute of Neurology
Chirurgia (Romania) | Year: 2013
Background: The lateral ventricles are located in the center of the brain. Each ventricle lies in contact with five critical neural structures: the caudate nucleus, the thalamus, the fornix, the corpus callosum, and the genu of internal capsule. The authors report their experience in primary tumors of the lateral ventricles of the brain by analysing the symptomatology, the surgical treatment, the complications and the postoperative results. Objective: To determine the importance of the surgical technique on the morbidity and the recurrence of lateral ventricles tumors. Total surgical resection followed by radiotherapy and/or chemotherapy had been the main objective in the cases of anaplastic tumors. Methods: This retrospective study makes reference to 202 primary tumors of the lateral ventricles operated by Leon Danaila between 1982 and 2012. The respective analysis is based on the operative approaches and on the extent of resection. The surgical access routes were the interhemispheric transcallosal approach and the transcortical approach. Results: A number of 177 (87%) of the primary tumors of the lateral ventricles were benign (low grade lesions), while 25 (12.37%) of them were anaplastic. The most frequent tumors were ependymomas, astrocytomas, subependymomas, choroid plexus papillomas and meningiomas. Out of the total of 202 tumor cases, 164 (81.18%) were discharged with very good and good results, 35 (17.32%) were left with neurological deficits, and 3 (1.48%) died. A significant proportion of the patients undergoing surgery develop cerebrospinal fluid outflow bstruction, and this fact made the postoperative mounting of a number of ventricular shunts necessary. Conclusion: The majority of these tumors were benign, with a relatively slow growth rate. Owing to this fact, the preoperative dimensions of the tumors were of several centimeters. The average age of the patients was lower than that of those with similar lesions located intraparenchymatously. The symptoms were determined by the ventricular outflow obstruction and by the affectation of the periventricular structures. Interhemispheric transcallosal and transcortical approaches were the best surgical access routes.
Gouider-Khouja N.,National Institute of Neurology |
Kraoua I.,National Institute of Neurology |
Benrhouma H.,National Institute of Neurology |
Fraj N.,National Institute of Neurology |
Rouissi A.,National Institute of Neurology
European Journal of Paediatric Neurology | Year: 2010
Inborn errors of metabolism (IEM) are a group of genetic disorders characterized by dysfunction of an enzyme or other protein involved in cellular metabolism.1 Most IEMs involve the nervous system (neuro-metabolic diseases or NMD). NMD often present with a complex clinical picture: psychomotor retardation and/or regression, pyramidal signs, ataxia, hypotonia and epilepsy and movement disorders.1 Movement disorders are more frequently part of this complex picture than a predominant symptom, however in some instances the clinical picture may be summarized in an invalidating movement disorder.2. On a phenomenology basis, one can distinguish eight main types of movement disorders: dystonia and athetosis, chorea, tremor with or without parkinsonism, ballismus, myoclonus, tics and stereotypies. Most of these abnormal involuntary movements generate from a dysfunction or a lesion in the basal ganglia, excepting myoclonus, the origin of which can vary (cortical, brainstem, basal ganglia, spinal and even peripheral nervous system).3. Classically the most frequently observed movement disorders in NMD are: dystonia, myoclonus, chorea, tremor and parkinsonism (Fig. 1). The primary goal of this article is, departing from the literature and a large personal series, to describe the types of movement disorders most frequently observed in NMD and to discuss their clinical value in the setting of specific types of NMD. © 2009.
Sinforiani E.,National Institute of Neurology |
Citterio A.,National Institute of Neurology |
Zucchella C.,National Institute of Neurology |
Bono G.,University of Insubria |
And 3 more authors.
Dementia and Geriatric Cognitive Disorders | Year: 2010
Background and Aims: Since little is known about the role of gender in the course of Alzheimer's disease (AD), a prospective epidemiological study was conducted to detect gender differences in relation to AD evolution and outcome. Methods: Six hundred AD patients, 214 men and 386 women, first seen between September 2000 and December 2003, were enrolled; the follow-up period lasted until December 2008. Results: The men had greater comorbidity and higher mortality than the women, who instead recorded more disability and longer survival. Survival curves showed that women reach partial loss of autonomy faster than men. Higher Neuropsychiatric Inventory scores at baseline showed a predictive value for loss of autonomy regardless of gender. Pharmacological treatment seems to have a protective role on disability and mortality. Conclusions: Gender influences disease evolution not only directly but also through other factors such as comorbidity. Copyright © 2010 S. Karger AG.