Cannabis in patients with Parkinson's disease in Argentina. A cross sectional study.

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.

Everything you always wanted to know about sex and Neurology: neurological disability and sexuality.

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.

Everything you always wanted to know about sex and Neurology: neurological disability and sexuality / Todo lo que siempre quiso saber sobre sexo y Neurologia pero nunca se atrevió a preguntar: estudio sobre discapacidad neurologica y sexualidad

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.

Neurogenetics in Argentina: diagnostic yield in a personalized research based clinic.

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.

Hemimasticatory spasm: report of a case and review of the literature†.

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.

[The broad phenotypic spectrum of SCA-3: hereditary spastic paraplegia]. / Amplio espectro fenotípico de la SCA-3: paraparesia espástica hereditaria.

Machado-Joseph disease (MJD) is the most frequent dominantly inherited spinocerebellar ataxia. A marked phenotypic variability is a characteristic of this disorder that could involve non-cerebellar presentations. Based on several case reports describing pyramidal dysfunction as the main symptom at onset, a clinical form resembling hereditary spastic paraplegia has been proposed. We report here two further cases of MJD patients whose initial clinical presentation suggested hereditary spastic paraplegia, and a summary of the main findings of previously similar published reports. Our findings lent support to the proposal of a MJD subtype distinguished by a marked pyramidal dysfunction at onset, simulating a clinical picture of hereditary spastic paraplegia.

Amplio espectro fenotípico de la SCA-3: paraparesia espástica hereditaria / The broad phenotypic spectrum of SCA-3: hereditary spastic paraplegia

La ataxia espinocerebelosa tipo 3 o enfermedad de Machado-Joseph (SCA-3/EMJ) es la forma más frecuente de ataxia espinocerebelosa autosómica dominante. Se caracteriza por una marcada variabilidad fenotípica, pudiendo causar formas no cerebelosas de presentación. En base a algunos casos comunicados, se ha propuesto una forma de presentación clínica similar a la de una paraparesia espástica hereditaria, con la presencia de signos de disfunción piramidal predominantes como la manifestación clínica inicial. Presentamos dos nuevos casos de SCA-3/EMJ con un cuadro clínico inicial sugerente de paraparesia espástica hereditaria y una revisión de los casos clínicos similares previamente informados. Nuestros hallazgos apoyan la propuesta de un subtipo de SCA-3/EMJ caracterizado por la presencia de marcada disfunción piramidal como manifestación inicial, simulando un cuadro clínico de paraparesia espástica hereditaria.

Machado-Joseph disease (MJD) is the most frequent dominantly inherited spinocerebellar ataxia. A marked phenotypic variability is a characteristic of this disorder that could involve non-cerebellar presentations. Based on several case reports describing pyramidal dysfunction as the main symptom at onset, a clinical form resembling hereditary spastic paraplegia has been proposed. We report here two further cases of MJD patients whose initial clinical presentation suggested hereditary spastic paraplegia, and a summary of the main findings of previously similar published reports. Our findings lent support to the proposal of a MJD subtype distinguished by a marked pyramidal dysfunction at onset, simulating a clinical picture of hereditary spastic paraplegia.

Amplio espectro fenotípico de la SCA-3: paraparesia espástica hereditaria / The broad phenotypic spectrum of SCA-3: hereditary spastic paraplegia

La ataxia espinocerebelosa tipo 3 o enfermedad de Machado-Joseph (SCA-3/EMJ) es la forma más frecuente de ataxia espinocerebelosa autosómica dominante. Se caracteriza por una marcada variabilidad fenotípica, pudiendo causar formas no cerebelosas de presentación. En base a algunos casos comunicados, se ha propuesto una forma de presentación clínica similar a la de una paraparesia espástica hereditaria, con la presencia de signos de disfunción piramidal predominantes como la manifestación clínica inicial. Presentamos dos nuevos casos de SCA-3/EMJ con un cuadro clínico inicial sugerente de paraparesia espástica hereditaria y una revisión de los casos clínicos similares previamente informados. Nuestros hallazgos apoyan la propuesta de un subtipo de SCA-3/EMJ caracterizado por la presencia de marcada disfunción piramidal como manifestación inicial, simulando un cuadro clínico de paraparesia espástica hereditaria.(AU)

Machado-Joseph disease (MJD) is the most frequent dominantly inherited spinocerebellar ataxia. A marked phenotypic variability is a characteristic of this disorder that could involve non-cerebellar presentations. Based on several case reports describing pyramidal dysfunction as the main symptom at onset, a clinical form resembling hereditary spastic paraplegia has been proposed. We report here two further cases of MJD patients whose initial clinical presentation suggested hereditary spastic paraplegia, and a summary of the main findings of previously similar published reports. Our findings lent support to the proposal of a MJD subtype distinguished by a marked pyramidal dysfunction at onset, simulating a clinical picture of hereditary spastic paraplegia.(AU)

Tonic spasms are a common clinical manifestation in patients with neuromyelitis optica / Espasmos tônicos são manifestações clínicas frequentes em pacientes com neuromielite óptica

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. .

Tonic spasms are a common clinical manifestation in patients with neuromyelitis optica.

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.

Amplio espectro fenotípico de la SCA-3: paraparesia espástica hereditaria. / [The broad phenotypic spectrum of SCA-3: hereditary spastic paraplegia].

Machado-Joseph disease (MJD) is the most frequent dominantly inherited spinocerebellar ataxia. A marked phenotypic variability is a characteristic of this disorder that could involve non-cerebellar presentations. Based on several case reports describing pyramidal dysfunction as the main symptom at onset, a clinical form resembling hereditary spastic paraplegia has been proposed. We report here two further cases of MJD patients whose initial clinical presentation suggested hereditary spastic paraplegia, and a summary of the main findings of previously similar published reports. Our findings lent support to the proposal of a MJD subtype distinguished by a marked pyramidal dysfunction at onset, simulating a clinical picture of hereditary spastic paraplegia.

[Comparison study of executive functions in Parkinson's disease and degenerative cerebellar disease's patients]. / Estudio comparativo de las funciones ejecutivas entre pacientes con enfermedad de Parkinson y pacientes con enfermedad degenerativa cerebelosa.

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.

Estudio comparativo de las funciones ejecutivas entre pacientes con enfermedad de Parkinson y pacientes con enfermedad degenerativa cerebelosa / Comparison study of executive functions in Parkinson's disease and degenerative cerebellar disease's patients

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.

Improvement of blepharospasm with Zolpidem.

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.

Hipopituitarismo originado por metastasis de carcinoma de colon asociado con aspergilosis hipofisaria / Hypopituitarism originating to colonic carcinoma metastasis associated with hypophysial aspergillosis

Las metástasis hipofisiarias constituyen el 1 al 8,3 por ciento del total de tumores metastásicos cerebrales. La localización más frecuente es en el lóbulo posterior y la diabetes insípida puede ser el único síntoma de disfunción. La aspergilosis cerebral es una enfermedad inusual y ha sido descripta complicando una malignidad preexistente, o posteriormente a una cirugía intracraneal. Describimos un hipopituitarismo e hiperprolactinemia en una paciente quien presentó metástasis hipofisarias de un carcinoma de colon y aspergilosis coexistente. Dos años antes, se le había resecado un adenocarcinoma de colon (clase Cl de Duke). Ningún signo clínico de hipopituitarismo o galactorrea estaban presentes. Los hallazgos de laboratorio reflejan déficit de corticotrofina (ACTH), hormona luteinizante (LH), hormona folículo estimulante (FSH), y una leve hiperprolactinemia (PRL). Una resonancia magnética cerebral reveló una massa intra y supraselar la cual se extendía a hipotálamo. La radiografía de tórax y la tomografía computada confirmó una massa macronodular en el segmento apical del lóbulo pulmonar inferior izquierdo con nódulos hipertróficos meidastinales. Fue diagnosticado un tumor hipofisario no funcionante realizándose cirugía transfenoidal. El examen microscópico confirmó una proliferación maligna que sugería diferenciación colónica. Fragmentos de tejido ipofisário tumoral mostraron hifas de aspergilus formando abscesos. La aspergilosis como complicación de enfermedades neoplásicas, es mayor en leucemias y linfomas que en tumores sólidos. El diagnóstico de aspergilosis del SNC es dificultoso, siendo éste generalmente confirmado durante la necropsia. Esta localización puede aparecer como parte de una aspergilosis diseminada, o como una infección única del SNC, aunque la mayoría de los casos está asociada a una aspergilosis pulmonar. Hasta la fecha, no hemos encontrado publicada la asociación de hipopituitarismo y moderada hiperprolactinemia cuya etiología fue metástasis hipofisaria de carcinoma de colon y aspergilosis coexistente (AU)

Hipopituitarismo originado por metastasis de carcinoma de colon asociado con aspergilosis hipofisaria / Hypopituitarism originating to colonic carcinoma metastasis associated with hypophysial aspergillosis

Las metástasis hipofisiarias constituyen el 1 al 8,3 por ciento del total de tumores metastásicos cerebrales. La localización más frecuente es en el lóbulo posterior y la diabetes insípida puede ser el único síntoma de disfunción. La aspergilosis cerebral es una enfermedad inusual y ha sido descripta complicando una malignidad preexistente, o posteriormente a una cirugía intracraneal. Describimos un hipopituitarismo e hiperprolactinemia en una paciente quien presentó metástasis hipofisarias de un carcinoma de colon y aspergilosis coexistente. Dos años antes, se le había resecado un adenocarcinoma de colon (clase Cl de Duke). Ningún signo clínico de hipopituitarismo o galactorrea estaban presentes. Los hallazgos de laboratorio reflejan déficit de corticotrofina (ACTH), hormona luteinizante (LH), hormona folículo estimulante (FSH), y una leve hiperprolactinemia (PRL). Una resonancia magnética cerebral reveló una massa intra y supraselar la cual se extendía a hipotálamo. La radiografía de tórax y la tomografía computada confirmó una massa macronodular en el segmento apical del lóbulo pulmonar inferior izquierdo con nódulos hipertróficos meidastinales. Fue diagnosticado un tumor hipofisario no funcionante realizándose cirugía transfenoidal. El examen microscópico confirmó una proliferación maligna que sugería diferenciación colónica. Fragmentos de tejido ipofisário tumoral mostraron hifas de aspergilus formando abscesos. La aspergilosis como complicación de enfermedades neoplásicas, es mayor en leucemias y linfomas que en tumores sólidos. El diagnóstico de aspergilosis del SNC es dificultoso, siendo éste generalmente confirmado durante la necropsia. Esta localización puede aparecer como parte de una aspergilosis diseminada, o como una infección única del SNC, aunque la mayoría de los casos está asociada a una aspergilosis pulmonar. Hasta la fecha, no hemos encontrado publicada la asociación de hipopituitarismo y moderada hiperprolactinemia cuya etiología fue metástasis hipofisaria de carcinoma de colon y aspergilosis coexistente