Impulse Control Disorders in Parkinson's Disease. A Brief and Comprehensive Review

Impulse control and related disorders (ICDs-RD) encompasses a heterogeneous group of disorders that involve pleasurable behaviors performed repetitively, excessively, and compulsively. The key common symptom in all these disorders is the failure to resist an impulse or temptation to control an act or specific behavior, which is ultimately harmful to oneself or others and interferes in major areas of life. The major symptoms of ICDs include pathological gambling (PG), hypersexualtiy (HS), compulsive buying/shopping (CB) and binge eating (BE) functioning. ICDs and ICDs-RD have been included in the behavioral spectrum of non-motor symptoms in Parkinson's disease (PD) leading, in some cases, to serious financial, legal and psychosocial devastating consequences. Herein we present the prevalence of ICDs, the risk factors, its pathophysiological mechanisms, the link with agonist dopaminergic therapies and therapeutic managements

Pseudodystonic Posture Secondary to Klippel–Feil Syndrome and Diastematomyelia

Background: Dystonic postures possess a great number of differential diagnoses. Phenomenology Shown: We describe a pseudodystonic posture in a 61‐year‐old woman with skeletal and extra‐skeletal abnormalities. Educational Value: Klippel–Feil syndrome represents an unusual cause of pseudodystonic posture to be considered in the differential diagnosis of dystonia

Sul ritrovamento di un carteggio scientifico di Emanuele Fergola

In questa nota si dà notizia del ritrovamento di circa 150 lettere, facenti parte della corrispondenza di Emanuele Fergola, conservate da Francesco Luccio suo discendente, e di cui si fornisce l'inventario completo. Le lettere completano la già ampia raccolta di epistole custodita presso l'Archivio Storico dell'Osservatorio Astronomico di Capodimonte, di cui Fergola fu direttore dal 1889 al 1909

Emanuele Fergola. Carteggi (1855-1907)

Emanuele Fergola, matematico e astronomo napoletano, fu tra i più apprezzati scienziati del suo tempo. Direttore dell'Osservatorio Astronomico di Capodimonte tra il 1889 e il 1909, fu autore di un progetto mai prima attuato in campo astronomico e attinente alla questione internazionale della variazione delle latitudini che Fergola sosteneva fosse intrinseca e non dovuta a cause accidentali e locali. Nel 1883 Fergola presentò al Congresso dell'Associazione Geodetica Internazionale, a Roma, un progetto per monitorare le variazioni di latitudine che avrebbe dovuto coinvolgere coppie di osservatori astronomici situati a grandi differenze di longitudine ma posti sullo stesso parallelo. La sua proposta poté concretizzarsi solo nel 1892 con osservazioni simultanee tra l'Osservatorio di Napoli e quello di New York. Le corrispondenze di Fergola, pubblicate nel volume, sono una preziosa testimonianza della sua attività scientifica e dell'attuazione del suddetto programma. Le lettere con gli astronomi americani, J.K. Rees, H. Jacoby e H.S. Davis sono una vera e propria cronaca delle fasi in cui si articolò il progetto e grazie al quale l'ipotesi di Fergola risultò pienamente verificata

Focal Task-specific Dystonia among Professional Musicians in Latin America

The authors read with great interest the article ‘‘Focal Task-specific Dystonia— From Early Descriptions to a New, Modern Formulation’’ by Frucht, which presented a new working conceptual model of focal taskspecific dystonia (FTSD) attempting to integrate phenomenology, physiology, and treatment. Nevertheless, several aspects of FTSD remain unresolved, and Frucht suggests that international working groups focusing on musician’s dystonia (MD) could contribute to better understanding in the field. The estimated prevalence of FTSD is 0.5–1% for all professional musicians, although there is wide variation in different populations and in the type of instrument played.2–5 To investigate the data available from their region, the authors conducted a systematic search of MD in Latin America. The Medline, EMBASE, and LILACS databases were explored using the subject terms musician’s dystonia Latin America, focal dystonia Latin America, and prevalence studies of FTSD in highly skilled musicians from Latin America. The authors searched for articles in English and in Spanish. Data from Latin American countries about MD are scarce, and only isolated reports or small series of cases were found in the English literature

Pantothenate kinase-associated neurodegeneration: Novel mutations in the PANK2 gene in an argentinean young woman

Neurodegeneration with brain iron accumulation (NBIA) refers to a heterogeneous group of disorders.1–3 The pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder caused by defective iron metabolism associated with mutations in the pantothenate kinase 2 (PANK2) gene on chromosome 20p13–p12.3.Fil: Gatto, Emilia Mabel. Instituto de Neurociencias Buenos Aires; ArgentinaFil: Etcheverry, Jose L.. Instituto de Neurociencias Buenos Aires; ArgentinaFil: Converso, Daniela Paola. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín. Laboratorio de Metabolismo del Oxígeno; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Bidinost, Carla. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín. Laboratorio de Metabolismo del Oxígeno; ArgentinaFil: Rosa, Alberto Luis. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín. Laboratorio de Metabolismo del Oxígeno; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba; Argentin

Challenges in Clinico-Genetic Correlations in Parkinson’s disease (PD): The Role of Copy Number Variants (CNV)

Parkinson’s disease (PD) represents the second most common neurodegenerative disease and remains incurable. Mutations in multiple genes have been linked to monogenic PD (gPD); these monogenic forms, however, represent a small number of cases while in most instances PD appears as idiopathic (iPD). These findings raise the question of whether genetic and idiopathic parkinsonisms constitute the same disease. Nevertheless, monogenic-PD phenotypes and iPD both fulfill MDS criteria for PD, and show evidence of alpha-synuclein aggregates in both conditions. Distinct genetic loci in rare Mendelian forms have been identified as causal mutations, others as possible disease-causing genes, and genome-wide association studies have reported several risk loci, many of them located in the genes associated with the dominant mutations. Not only single-nucleotide polymorphisms (SNPs), but other kinds of DNA molecular defects as well have been spotted as significant disease-causing mutations, including large chromosomal structural rearrangements and copy number variations (CNVs). As their size varies, and detection methodologies have different sensitivity and resolution, CNVs pose a special challenge in genetic studies, and there currently is a debate on the pathogenetic or susceptibility impact of specific CNVs on PD. In this review, through multiple instances of experimental evidence, we analyze the impact on histopathology of the different mutational mechanisms involved in the genesis and etiology of PD. We believe that increasing our knowledge about the changes and implications at tissue level produced by each of those mechanisms will allow to develop much more suitable and personalized potential therapeutic strategies, biomarker identification, as well as disease modeling, agreeing with the precision medicine concept.Fil: Gatto, Emilia Mabel. Instituto de Neurociencias Buenos Aires S. A.; ArgentinaFil: Radrizzani Helguera, Martin. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Universidad Nacional de San Martín; ArgentinaFil: González Rojas, Natalia. Instituto de Neurociencias Buenos Aires S. A.; ArgentinaFil: Cesarini, Martin Emiliano. Instituto de Neurociencias Buenos Aires S. A.; ArgentinaFil: Etcheverry, José Luis. Instituto de Neurociencias Buenos Aires S. A.; ArgentinaFil: Perandones, Claudia. Dirección Nacional de Instituto de Investigación.Administración Nacional de Laboratorios e Institutos de Salud "Dr. Carlos G. Malbrán"; Argentin

Overexpression of neutrophil neuronal nitric oxide synthase in Parkinson's disease

Much evidence supports a role of nitric oxide (·NO) and peroxynitrite (ONOO-) in experimental and idiopathic Parkinson's disease (PD); moreover, an overexpression of neuronal nitric oxide synthase (nNOS) was recently reported in the basal ganglia of PD patients. In accord, we previously found a 50% increased ·NO production rate during the respiratory burst of circulating neutrophils (PMN) from PD patients. As PMN express the nNOS isoform, the objective of the present study was to ascertain whether this increased ·NO production is representative of nNOS gene upregulation. PMN were isolated from blood samples obtained from seven PD patients and seven age- and sex-matched healthy donors; nNOS mRNA was amplified by reverse transcriptase-polymerase chain reaction and the products were hybridized with a probe for nNOS. Nitrotyrosine-containing proteins and nNOS were detected by Western blot and NO production rate was measured spectrophotometrically by the conversion of oxymyoglobin to metmyoglobin. The results showed that both ·NO production and protein tyrosine nitration were significantly increased in PMN isolated from PD patients (PD 0.09 ± 0.01 vs 0.06 ± 0.008 nmol min-1 106 cells-1; P < 0.05). In addition, five of the seven PD patients showed about 10-fold nNOS mRNA overexpression; while two of the seven PD patients showed an expression level similar to that of the controls; detection of nNOS protein was more evident in the former group. In summary, it is likely that overexpression of nNOS and formation of ONOO- in PMN cells from PD patients emphasizes a potential causal role of ·NO in the physiopathology of the illness. (C) 2000 Academic Press.Fil: Gatto, Emilia Mabel. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín. Laboratorio de Metabolismo del Oxígeno; ArgentinaFil: Riobó, Natalia A.. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín. Laboratorio de Metabolismo del Oxígeno; ArgentinaFil: Carreras, Maria Cecilia. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín. Laboratorio de Metabolismo del Oxígeno; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Cherñavsky, Alejandra Claudia. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín. Laboratorio de Inmunogenética; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Inmunología, Genética y Metabolismo. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Inmunología, Genética y Metabolismo; ArgentinaFil: Rubio, Andrea. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín. Laboratorio de Inmunogenética; ArgentinaFil: Satz, M. Leonardo. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín. Laboratorio de Inmunogenética; ArgentinaFil: Poderoso, Juan José. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Inmunología, Genética y Metabolismo. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Inmunología, Genética y Metabolismo; Argentina. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín. Laboratorio de Metabolismo del Oxígeno; Argentin

Pharmacovigilance in Neuroscience

Background: Adverse drug reactions (ADRs) have a high impact on morbidity and mortality of the population, becoming a public health issue. Studying and publishing about these is referred as pharmacovigilance.Objective: To describe and compare the adverse reactions produced by drugs of nervous system action (CNS-D) and neurological ADRs produced by drugs of systemic action (Sys-D). To further develop the need of reporting adverse reactions. Methods: An observational, cross-sectional, retrospective study performed on a database of neurological consultations which took place at the Neurology department. Patients meeting the inclusion criteria were selected and divided into two groups: Sys-D and CNS-D. Demographic and neurological variables were analyzed. Parametric and non-parametric statistics were used according to distribution. The Naranjo Algorithm (NA) was used to define causality.Results: 71 ADRs were described, from which 63.38% (n=45) were produced by CNS-D, especially antiepileptics by 47% (n=21) and psycholeptics by 44%. Of the total, 36.62% (n=26) were caused by Sys-D, such as antineoplastics (n=9) and antibiotics (n=9), being Cefepime the most frequent. The diagnosis of ADRs caused by a Sys-D was delayed prolonging hospitalization (p 0.05) due to a lower NA score (p 0.003) compared to the CNS-D group.Conclusion: Multiple frequently used drugs of systemic action, such as antineoplastics and antibiotics, generate neurological adverse effects. From our analysis, it was presumed that the suspicion of a neurological ADR caused by these drugs was scarce, thus causing a higher morbidity for the patient

Intrafamilial variable phenotype including corticobasal syndrome in a family with p.P301L mutation in the MAPT gene: first report in South America

Frontotemporal lobar degeneration is a neuropathological disorder that causes a variety of clinical syndromes including frontotemporal dementia (FTD), progressive supranuclear palsy, and corticobasal syndrome (CBS). FTD associated with parkinsonism occurs frequently as a result of mutations in the C9orf72 gene and also in the genes coding for the protein associated with microtubule tau (MAPT) and progranulin (GRN) on chromosome 17 (FTDP-17). Herein, we report an Argentinean family, of Basque ancestry, with an extensive family history of behavioral variant of FTD. Twenty-one members over 6 generations composed the pedigree. An extensive neurologic and neurocognitive examination was performed on 2 symptomatic individuals and 3 nonsymptomatic individuals. Two different phenotypes were identified among affected members, CBS in the proband and FTD in his brother. DNA was extracted from blood for these 5 individuals and whole-exome sequencing was performed on 3 of them followed by Sanger sequencing of candidate genes on the other 2. In both affected individuals, a missense mutation (p.P301L; rs63751273) in exon 10 of the MAPT gene (chr17q21.3) was identified. Among MAPT mutations, p.P301L is the most frequently associated to different phenotypes: (1) aggressive, symmetrical, and early-onset Parkinsonism; (2) late parkinsonism associated with FTD; and (3) progressive supranuclear palsy but only exceptionally it is reported associated to CBS. This is the first report of the occurrence of the p.P301L-MAPT mutation in South America and supports the marked phenotypic heterogeneity among members of the same family as previously reported