Assuntos
COVID-19 , Ataxia Cerebelar , Mioclonia , Humanos , Mioclonia/diagnóstico , Mioclonia/etiologia , Ataxia , SíndromeRESUMO
We made an observational cross-sectional study to evaluate the prevalence of cannabis use, characteristics and results perceived by a group of PD patients. Semi-structured questionnaire was applied to patients. Until obtaining more information we suggest to incorporate into regular medical practice the question about the use of cannabis.
Assuntos
Moduladores de Receptores de Canabinoides/farmacologia , Conhecimentos, Atitudes e Prática em Saúde , Maconha Medicinal/farmacologia , Doença de Parkinson/tratamento farmacológico , Adulto , Idoso , Idoso de 80 Anos ou mais , Argentina , Moduladores de Receptores de Canabinoides/administração & dosagem , Moduladores de Receptores de Canabinoides/efeitos adversos , Estudos Transversais , Feminino , Humanos , Masculino , Maconha Medicinal/administração & dosagem , Maconha Medicinal/efeitos adversos , Pessoa de Meia-Idade , Avaliação de Resultados em Cuidados de SaúdeRESUMO
OBJECTIVE: Chronic neurological disorders generate disabilities affecting multiple aspects of life, including sexuality. OBJECTIVE: To describe the presence of sexual dysfunction and comorbidities in a population with chronic neurological disorders. To analyze the relationship between disability and sexual dysfunction. METHODS: A cross-sectional case-control study was carried out. Patients with amyotrophic lateral sclerosis (ALS), multiple sclerosis (MS), Parkinson's disease (PD), and stroke of at least one year since the onset of symptoms were included, and compared with controls with no neurological disease, matched by age and sex. RESULTS: We included 71 participants: 29 controls, with a mean age of 49.4 years, and 42 patients with a mean age of 53.8 years. Sexual dysfunction was present in 22.5% of the controls and 77.5% of the patients. A statistically significant relationship between sexual dysfunction and disability was found in the logistic regression analysis (OR = 20.38, 95%CI: 2.5 -165.86). CONCLUSIONS: Disability proved to be the main variable related to the presence of sexual dysfunction. Patients with ALS had the worst rates of sexual dysfunction. Patients with MS were similar to the control group. As for the PD group, no patient had normal sexuality. Finally, in stroke patients, the presence of comorbidities and their treatment may have negatively influenced sexuality. These findings showed that patients with chronic neurological diseases have sexual dysfunction and underscore the need for neurologists to know and address this problem.
Assuntos
Esclerose Lateral Amiotrófica/complicações , Esclerose Múltipla/complicações , Doenças do Sistema Nervoso/complicações , Doença de Parkinson/complicações , Acidente Vascular Cerebral/complicações , Estudos de Casos e Controles , Doença Crônica , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Índice de Gravidade de DoençaRESUMO
ABSTRACT Chronic neurological disorders generate disabilities affecting multiple aspects of life, including sexuality. Objective To describe the presence of sexual dysfunction and comorbidities in a population with chronic neurological disorders. To analyze the relationship between disability and sexual dysfunction. Methods A cross-sectional case-control study was carried out. Patients with amyotrophic lateral sclerosis (ALS), multiple sclerosis (MS), Parkinson's disease (PD), and stroke of at least one year since the onset of symptoms were included, and compared with controls with no neurological disease, matched by age and sex. Results We included 71 participants: 29 controls, with a mean age of 49.4 years, and 42 patients with a mean age of 53.8 years. Sexual dysfunction was present in 22.5% of the controls and 77.5% of the patients. A statistically significant relationship between sexual dysfunction and disability was found in the logistic regression analysis (OR = 20.38, 95%CI: 2.5 -165.86). Conclusions Disability proved to be the main variable related to the presence of sexual dysfunction. Patients with ALS had the worst rates of sexual dysfunction. Patients with MS were similar to the control group. As for the PD group, no patient had normal sexuality. Finally, in stroke patients, the presence of comorbidities and their treatment may have negatively influenced sexuality. These findings showed that patients with chronic neurological diseases have sexual dysfunction and underscore the need for neurologists to know and address this problem.
RESUMO Las enfermedades neurológicas crónicas generan discapacidad afectando múltiples aspectos de la vida, incluida la sexual. Objetivo Describir en una población con enfermedades neurológicas crónicas la presencia de disfunción sexual y posibles comorbilidades acompañantes. Analizar la relación entre discapacidad y disfunción sexual. Métodos Se realizó un estudio transversal de tipo casos y controles. Se incluyeron pacientes con Esclerosis Lateral Amiotrófica (ELA), Esclerosis Múltiple (EM), enfermedad de Parkinson (EP) y secuelados por enfermedad cerebrovascular (sACV) de al menos un año de evolución, controlando con sujetos sin enfermedad neurológica pareados por edad y sexo. Resultados Se incluyeron 71 sujetos: 29 controles, con una edad media 49,4 años y 42 casos con una edad media de 53,8 años. Presentaron disfunción sexual el 22,5% de los controles y el 77,5% de los casos. En el análisis por regresión logística se encontró una relación estadísticamente significativamente entre disfunción sexual y discapacidad. (OR = 20.38, IC95%: 2.5-165.86). Conclusiones La discapacidad demostró ser la principal variable relacionada con la presencia de disfunción sexual. Los enfermos con ELA fueron los que peores índices de disfunción sexual presentaron. Los pacientes con EM se comportaron de forma similar al grupo control. En cuanto al grupo de EP todos los pacientes tuvieron algún trastorno en su sexualidad. Por último, en sACV la presencia de comorbilidades y su tratamiento podrían influir negativamente en la sexualidad. Estos hallazgos evidencian que la disfunción sexual está presente en los pacientes con enfermedades neurológicas crónicas y confirma la necesidad de conocer este problema por parte de los neurólogos.
Assuntos
Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Doença de Parkinson/complicações , Acidente Vascular Cerebral/complicações , Esclerose Lateral Amiotrófica/complicações , Esclerose Múltipla/complicações , Doenças do Sistema Nervoso/complicações , Índice de Gravidade de Doença , Estudos de Casos e Controles , Doença Crônica , Estudos TransversaisRESUMO
As a whole neurogenetic diseases are a common group of neurological disorders. However, the recognitionand molecular diagnosis of these disorders is not always straightforward. Besides, there is a paucity of informationregarding the diagnostic yield that specialized neurogenetic clinics could obtain. We performed a prospective,observational, analytical study of the patients seen in a neurogenetic clinic at a tertiary medicalcentre to assess the diagnostic yield of a comprehensive diagnostic evaluation that included a personalizedclinical assessment along with traditional and next-generation sequencing diagnostic tests. We included a cohortof 387 patients from May 2008 to June 2014. For sub-group analysis we selected a sample of patientswhose main complaint was the presence of progressive ataxia, to whom we applied a systematic moleculardiagnostic algorithm. Overall, a diagnostic mutation was identified in 27·4% of our cohort. However, if weonly considered those patients where a molecular test could be performed, the success rate rises to 45%. Weobtained diagnostic yields of 23·5 and 57·5% in the global group of ataxic patients and in the subset of ataxicpatients with a positive family history, respectively. Thus, about a third of patients evaluated in a neurogeneticclinic could be successfully diagnosed.
Assuntos
Sequenciamento de Nucleotídeos em Larga Escala/métodos , Doenças do Sistema Nervoso/diagnóstico , Doenças do Sistema Nervoso/genética , Medicina de Precisão/métodos , Adolescente , Adulto , Idoso , Argentina , Ataxia/diagnóstico , Ataxia/genética , Criança , Análise Mutacional de DNA , Saúde da Família , Feminino , Predisposição Genética para Doença/genética , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Estudos Prospectivos , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Centros de Atenção Terciária , Adulto JovemRESUMO
BACKGROUND: Hemimasticatory spasm is a very rare movement disorder characterized by unilateral, involuntary, paroxysmal contractions of the jaw-closing muscles, causing clinically brief twitches and/or spasms. CASE REPORT: A 62-year-old female consulted us with a 30-year history of unusual involuntary twitches in the preauricular region and spasms that hampered jaw opening. During these spasms, she could not open her mouth. On physical examination, we also observed hypertrophy of the masseter and temporalis muscles, which can be features of hemimasticatory spasm. She was treated with botulinum toxin type A, with excellent response. Here, we present her case and review the literature. DISCUSSION: Hemimasticatory spasm is a rare movement disorder. Given the excellent response to botulinum toxin type A treatment, it should be considered within the spectrum of facial spasms.
RESUMO
Huntington's disease (HD) is a neurodegenerative disorder of the central nervous system characterised by the presence of choreic abnormal movements, behavioural or psychiatric disturbances and dementia. Noteworthy, despite atypical motor symptoms other than chorea have been reported as initial presentation in some patients, a very few number of HD patients, presenting at onset mostly cerebellar dysfunction masquerading dominant spinocerebellar ataxias (SCA), were occasionally reported. We report the case of a 42-year-old man with a 5-year history of gait disturbance, dysarthria and cognitive impairment and familial antecedents of dementia and movement disorders. Initially the clinical picture suggested the diagnosis of a dominant SCA, but finally a diagnosis of HD was made based on the molecular evidence of abnormal 39 Cytosine-Adenine-Guanine (CAG) repeats in exon 1 of Huntingtin gene. The authors highlight the importance of suspecting HD in the aetiology of spinocerebellar ataxias when dementia is a prominent feature in the proband or their family.
Assuntos
Doença de Huntington/diagnóstico , Ataxias Espinocerebelares/diagnóstico , Adulto , Diagnóstico Diferencial , Humanos , Doença de Huntington/genética , Imageamento por Ressonância Magnética , Masculino , LinhagemRESUMO
Tonic spasms have been most commonly associated with multiple sclerosis. To date, few reports of series of patients with neuromyelitis optica and tonic spasms have been published. Methods: We analyzed the characteristics and frequency of tonic spasms in 19 subjects with neuromyelitis optica. Data was collected using a semi-structured questionnaire for tonic spasms, by both retrospectively reviewing medical records and performing clinical assessment. Results: All patients except one developed this symptom. The main triggering factors were sudden movements and emotional factors. Spasms were commonly associated to sensory disturbances and worsened during the acute phases of the disease. Carbamazepine was most commonly used to treat the symptom and patients showed good response to the drug. Conclusions: Tonic spasms are a common clinical manifestation in patients with neuromyelitis optica. .
Espasmos tônicos têm sido mais frequentemente associados com esclerose múltipla. Foram publicados até agora poucos relatos de série de pacientes com neuromielite óptica e espasmos tônicos. Métodos: Foram analisadas as características e a frequência de espasmos tônicos em 19 indivíduos com neuromielite óptica. Os dados foram coletados por meio de um questionário semiestruturado para espasmos tônicos, mediante a avaliação retrospectiva dos prontuários e a análise dos dados clínicos Resultados: Todos os pacientes com neuromielite óptica exceto um apresentaram espasmos tônicos. Os principais fatores desencadeantes foram movimentos bruscos e fatores emocionais. Espasmos foram frequentemente associados a perturbações sensoriais e se agravaram durante a fase aguda da doença. A carbamazepina foi utilizada frequentemente para tratar os sintomas, com boa resposta. Conclusões: Os espasmos tônicos são manifestações clínicas frequentes em pacientes com neuromielite óptica. .
Assuntos
Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Neuromielite Óptica/complicações , Espasmo/etiologia , Anticonvulsivantes/uso terapêutico , Carbamazepina/uso terapêutico , Neuromielite Óptica/tratamento farmacológico , Neuromielite Óptica/fisiopatologia , Fatores de Risco , Inquéritos e Questionários , Espasmo/tratamento farmacológico , Espasmo/fisiopatologiaRESUMO
UNLABELLED: Tonic spasms have been most commonly associated with multiple sclerosis. To date, few reports of series of patients with neuromyelitis optica and tonic spasms have been published. METHODS: We analyzed the characteristics and frequency of tonic spasms in 19 subjects with neuromyelitis optica. Data was collected using a semi-structured questionnaire for tonic spasms, by both retrospectively reviewing medical records and performing clinical assessment. RESULTS: All patients except one developed this symptom. The main triggering factors were sudden movements and emotional factors. Spasms were commonly associated to sensory disturbances and worsened during the acute phases of the disease. Carbamazepine was most commonly used to treat the symptom and patients showed good response to the drug. CONCLUSIONS: Tonic spasms are a common clinical manifestation in patients with neuromyelitis optica.
Assuntos
Neuromielite Óptica/complicações , Espasmo/etiologia , Adolescente , Anticonvulsivantes/uso terapêutico , Carbamazepina/uso terapêutico , Criança , Pré-Escolar , Feminino , Humanos , Neuromielite Óptica/tratamento farmacológico , Neuromielite Óptica/fisiopatologia , Fatores de Risco , Espasmo/tratamento farmacológico , Espasmo/fisiopatologia , Inquéritos e QuestionáriosRESUMO
AIM: To investigate whether the cerebellum could participate in social cognition (SC). METHOD: General neuropsychological tests, executive tests (EF), social cognition tests, which assess the ability to infer other peoples mental states, and the Beck Depression Inventory were given to 10 non-demented patients with isolated cerebellar degenerative disease, and to 10 healthy controls matched for sex, age, and years of education. ANOVA and correlation coefficients were employed for the statistical analysis. RESULTS: Patients within the cerebellar group were significantly impaired (pAssuntos
Doenças Cerebelares/fisiopatologia
, Cerebelo/fisiopatologia
, Transtornos Cognitivos/psicologia
, Cognição/fisiologia
, Comportamento Social
, Percepção Social
, Adolescente
, Adulto
, Análise de Variância
, Estudos de Casos e Controles
, Doenças Cerebelares/diagnóstico
, Cerebelo/patologia
, Criança
, Transtornos Cognitivos/diagnóstico
, Escolaridade
, Feminino
, Humanos
, Relações Interpessoais
, Masculino
, Pessoa de Meia-Idade
, Testes Neuropsicológicos
RESUMO
OBJETIVO: Investigar la hipótesis según la cual, el cerebelo podría participar en las alteraciones de la cognición social (CS). MÉTODO: Se administraron tests neuropsicológicos generales, de función ejecutiva (FE), de CS que evaluaban la capacidad de inferir el estado mental de otras personas y la escala de Depresión de Beck a 10 pacientes adultos con enfermedad cerebelosa adquirida aislada (GEC) y a 10 controles (GCO) apareados por edad, sexo y educación. Se analizaron los datos mediante ANOVA y correlación. RESULTADOS: El GEC obtuvo puntajes significativamente menores (p?0,05) que el grupo GCO en tareas de FE (Test de Wisconsin) y preguntas de creencia (PCr) de Teoría de la Mente (ToM). El rendimiento en las preguntas de control (PCo) de ToM fue similar en ambos grupos. El menor rendimiento en las PCr correlacionó significativamente con una menor habilidad conceptual, la severidad de la apatía (NPI) y de la ataxia estática. Las PCo correlacionaron con medidas de atención y de recuerdo diferido libre. CONCLUSíON: El cerebelo contribuiría en el monitoreo de la conducta mediante el control de datos multimodales motores, cognitivos y emocionales.
AIM: To investigate whether the cerebellum could participate in social cognition (SC). METHOD: General neuropsychological tests, executive tests (EF), social cognition tests, which assess the ability to infer other peoples mental states, and the Beck Depression Inventory were given to 10 non-demented patients with isolated cerebellar degenerative disease, and to 10 healthy controls matched for sex, age, and years of education. ANOVA and correlation coefficients were employed for the statistical analysis. RESULTS: Patients within the cerebellar group were significantly impaired (p?0.05) in EF test [Wisconsin Card Sorting Test (WSCT)] and belief questions (BQ) from Theory of Mind (ToM) tests. Performance in control questions (CQ) from ToM tests was similar for both groups. Lower scores in BQ correlated with a lower conceptual ability, the severity of apathy (NPI) and static ataxia. CQ correlated with measures of attention and free recall. CONCLUSION: The cerebellum may contribute in the control of social behavior through the processing of multimodal data, motor, cognitive and emotional.
Assuntos
Adolescente , Adulto , Criança , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Doenças Cerebelares/fisiopatologia , Cerebelo/fisiopatologia , Transtornos Cognitivos/psicologia , Cognição/fisiologia , Comportamento Social , Percepção Social , Análise de Variância , Estudos de Casos e Controles , Doenças Cerebelares/diagnóstico , Cerebelo/patologia , Transtornos Cognitivos/diagnóstico , Escolaridade , Relações Interpessoais , Testes NeuropsicológicosRESUMO
OBJECTIVE: To compare executive functions (EF) in non-demented mild to moderate Parkinson's disease (PD) (Hoehn and Yahr < or =3) and pure degenerative cerebellar disease (CD) in order to evaluate the relative contribution and differential role of basal ganglia and cerebellum in those functions. METHOD: 14 patients with PD and 14 patients with CD matched by sex, education, disease's duration and MMSE were selected. A standardized neuropsychological battery and the Wisconsin Card Sorting Test (WCST) were administered. Z scores were compared for both groups through t-test for independent samples were used. RESULTS: The cerebellar group showed significant lower performance in measures of attention and EF, with a significant increase in both perseverative and non perseverative errors during the WCST. On the other hand the PD group showed a selective increase of non perseverative errors, without reaching significant between group difference. CONCLUSION: The CD group appears to have greater deficits in EF with a pattern of prefrontal dysfunction.
Assuntos
Transtornos Cognitivos/etiologia , Transtornos da Memória/etiologia , Doença de Parkinson/psicologia , Degenerações Espinocerebelares/psicologia , Adulto , Gânglios da Base , Cerebelo , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Testes Neuropsicológicos , Resolução de Problemas , Desempenho Psicomotor , Índice de Gravidade de DoençaRESUMO
OBJETIVO: Comparar el rendimiento en tareas de función ejecutiva (FE) en sujetos con enfermedad de Parkinson (EP) leve a moderada (Hoehn y Yahr <3) no dementes y en sujetos con enfermedad degenerativa cerebelosa pura (EC), a fin de evaluar el eventual rol diferencial de los ganglios basales y el cerebelo en esa función. MÉTODO: Se evaluaron 14 pacientes con EP y 14 con EC apareados por sexo, educación, duración de enfermedad y MMSE, mediante tests neuropsicológicos estándar y el test de Wisconsin [WCST]). Se compararon puntajes Z promedio de cada grupo mediante prueba de "t" para muestras independientes. RESULTADOS: El grupo EC rindió significativamente menos en pruebas de atención y FE presentando errores perseverativos y no perseverativos durante el WCST. El grupo EP mostró aumento significativo de errores no perseverativos en relación al estándar esperado, sin alcanzar diferencias significativas con el grupo EC. CONCLUSION: el grupo EC mostró defectos significativamente mayores en tareas de FE exhibiendo un patrón de disfunción prefrontal.
OBJECTIVE: To compare executive functions (EF) in non-demented mild to moderate Parkinson's disease (PD) (Hoehn and Yahr <3) and pure degenerative cerebellar disease (CD) in order to evaluate the relative contribution and differential role of basal ganglia and cerebellum in those functions. METHOD: 14 patients with PD and 14 patients with CD matched by sex, education, disease's duration and MMSE were selected. A standardized neuropsychological battery and the Wisconsin Card Sorting Test (WCST) were administered. Z scores were compared for both groups through t-test for independent samples were used. RESULTS: The cerebellar group showed significant lower performance in measures of attention and EF, with a significant increase in both perseverative and non perseverative errors during the WCST. On the other hand the PD group showed a selective increase of non perseverative errors, without reaching significant between group difference. CONCLUSION: The CD group appears to have greater deficits in EF with a pattern of prefrontal dysfunction.
Assuntos
Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Transtornos Cognitivos/etiologia , Transtornos da Memória/etiologia , Doença de Parkinson/psicologia , Degenerações Espinocerebelares/psicologia , Gânglios da Base , Cerebelo , Testes Neuropsicológicos , Resolução de Problemas , Desempenho Psicomotor , Índice de Gravidade de DoençaRESUMO
Zolpidem (ZLP) is an imidazopyridine that binds to GABA receptors. We report on improvement of blepharospasm in 3 patients treated with ZLP. The GABAergic action of this drug on the output structures of the basal ganglia could explain the improvement of blepharospasm in these patients.
Assuntos
Blefarospasmo/tratamento farmacológico , Agonistas GABAérgicos/uso terapêutico , Piridinas/uso terapêutico , Idoso , Humanos , Masculino , Pessoa de Meia-Idade , ZolpidemRESUMO
La amiodarona (AMD) es una droga antiarritmica cuyos efectos adversos pueden comprometer el sistema nervioso central y periferico. La aparicion de un sindrome cerebeloso es infrecuente. Se presenta un paciente masculino de 56 años de edad que desarolla un sindrome pancerebeloso de 4 meses de evolución, que revieste luego de la suspensión de la AMD. El cuadro reaparece meses mas tarde luego de un periodo de automedicación con la droga. Los mecanismos toxicos por los cuales la AMD afecta al cerebelo permanecen inciertos. Esta droga de amplia difusion en nuestro medio, como otros antiarritmicos, posee efectos sobre el sistema nervioso que deben ser tenidos en cuenta a fin de poder detectarlos precozmente