RESUMEN
INTRODUCTION: Impulse control disorders (ICD) including hypersexuality, compulsive gambling, buying, eating, shopping and dopaminergic medication use, have been reported to occur frequently in Parkinson's disease (PD). Punding (complex, repetitive, excessive, non-goal oriented behaviours) have also been described. As patients may not report such behaviours to their neurologist, ICD and punding appear to be under-recognised in clinical practice. METHOD: We Prospectively screened 216 consecutive patients (102 men, age 77±5 years) with idiopathic PD. Patients and their caregivers were encouraged to complete a questionnaire with six questions on symptoms related to ICD and punding. In addition, we obtained a random sample matched by age and sex of 216 patients with idiopathic PD, and retrospective analysis of symptoms related to ICD and punding who had been referred spontaneously. RESULTS: Only 20 cases (9.26%) of 216 patients with PD who answered the questionnaire prospectively presented ICD and / or punding, some involving more than one type of repetitive behaviour and reward-seeking: 7 hypersexuality (3.24%), 2 pathological gambling (0.93%), 4 compulsive buying (1.85%), 2 compulsive eating (0.93%), 8 punding (3.70%) and 1 abuse of medication (0.46%).Of the retrospective sample of 216 patients age- and gender-matched, only 5 patients (2,31%) had spontaneously mentioned these symptoms: 2 hypersexuality (0.93%), 2 pathological gambling (0.93%) and 1 punding (0.46%). CONCLUSIONS: Patients with PD do not spontaneously admit the presence of ICD or punding and these behaviours appear to be under-recognised in clinical practice. A screening questionnaire is needed to ensure their detection.
Asunto(s)
Trastornos Disruptivos, del Control de Impulso y de la Conducta/diagnóstico , Trastornos Disruptivos, del Control de Impulso y de la Conducta/etiología , Enfermedad de Parkinson/complicaciones , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Entrevistas como Asunto , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Encuestas y CuestionariosRESUMEN
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an adult-onset inherited condition characterized by migraine, recurrent strokes, and subcortical dementia. Other manifestations as psychiatric disturbances, seizures, hypoacusia or learning disorders have been reported. CADASIL may be suspected based on clinical syndrome, a positive family history, and a typical cranial magnetic resonance image with T2/FLAIR hyperintense signals in the temporopolar white matter or the external capsule. Bilateral white matter abnormalities are invariably seen and often small subcortical infarcts are also present. Accumulation of the granular osmiophilic material on skin biopsy may help in diagnosis. Mutations in the NOTCH3 gene localized in chromosome 19 are involved in its pathogenesis. Only 11 families from Spain have been reported. Here we describe two members of a family with clinical symptoms and neuroimaging of CADASIL. The skin biopsy was negative. In both patients 346C>T mutation in exon 3 of NOTCH3 gene was found. There is the first Spanish family reported with CADASIL, caused by the 346C > T mutation in NOTCH3 gene which was frequently described in the European series.
Asunto(s)
CADASIL/genética , CADASIL/patología , Mutación , Receptores Notch/genética , Adulto , CADASIL/diagnóstico , Cromosomas Humanos Par 19 , Análisis Mutacional de ADN , Femenino , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Receptor Notch3 , EspañaRESUMEN
Electroconvulsive therapy (ECT) has demonstrated to be useful in psychiatric patients with parkinsonism as well as patients with Parkinson's disease (PD) without associated psychopathology. We prospectively evaluated three patients with PD and major depression in whom ECT proved to be efficacious. These patients experimented a marked improvement measured by the Unified Parkinson's Rating Scale (UPDRS). In two cases the ECT allowed for a reduction in their drug treatment, and in one case complex fluctuations disappeared. In the two patients who continued with ECT fortnightly, the improvement observed inicially has remained. Since ECT has shown a good tolerance, we conclude that this therapy should be considered as an alternative approach for PD patients with a poor answer to conventional treatment.
Asunto(s)
Terapia Electroconvulsiva , Enfermedad de Parkinson/terapia , Antiparkinsonianos/uso terapéutico , Clonazepam/uso terapéutico , Femenino , Moduladores del GABA/uso terapéutico , Humanos , Levodopa/uso terapéutico , Masculino , Persona de Mediana Edad , Estudios ProspectivosRESUMEN
Introducción: Los trastornos del control de impulsos (TCI) que incluyen hipersexualidad, ludopatía, compulsión por comer, comprar y consumir fármacos dopaminérgicos, han sido descritos en la enfermedad de Parkinson (EP) así como el punding (comportamiento estereotipado que comprende rituales motores automáticos, sin finalidad). Dado que los pacientes no suelen referir a su neurólogo estas conductas, el TCI y el punding están infradiagnosticados en la práctica clínica. Método: Prospectivamente a 216 pacientes consecutivos (102 hombres, edad media 77±5 años) con EP idiopática se les preguntó sistemáticamente sobre síntomas relacionados con TCI y punding. Además, se obtuvo una muestra al azar apareada por edad y sexo, de 216 pacientes con EP idiopática, y se revisó retrospectivamente la presencia de síntomas relacionados con TCI y punding que habían sido referidos espontáneamente. Resultados: Veinte casos (9,26%) de 216 pacientes con EP que contestaron el cuestionario de forma prospectiva presentaron TCI y/o punding, algunos de ellos con más de un tipo de conducta repetitiva: 7 hipersexualidad (3,24%), 2 ludopatía (0,93%), 4 compra compulsiva (1,85%), 2 atracones (0,93%), 8 punding (3,70%) y uno abuso de medicación (0,46%). De la muestra retrospectiva de 216 pacientes apareados por edad y sexo, sólo 5 pacientes (2,31%) habían referido de forma espontánea estos síntomas: 2 hipersexualidad (0,93%), 2 juego patológico (0,93%) y uno punding (0,46%). Conclusiones: Los pacientes con EP no admiten espontáneamente la presencia de TCI y punding, por lo que estas conductas están infradiagnosticadas .Para garantizar su detección es necesaria la realización de una entrevista dirigida (AU)
Introduction: Impulse control disorders (ICD) including hypersexuality, compulsive gambling, buying, eating, shopping and dopaminergic medication use, have been reported to occurfrequently in Parkinsons disease (PD). Punding (complex, repetitive, excessive, non-goal oriented behaviours) have also been described. As patients may not report such behaviours to their neurologist, ICD and punding appear to be under-recognised in clinicalpractice. Method: We Prospectively screened 216 consecutive patients (102 men, age 77±5 years)with idiopathic PD. Patients and their caregivers were encouraged to complete a questionnairewith six questions on symptoms related to ICD and punding. In addition, weobtained a random sample matched by age and sex of 216 patients with idiopathic PD, and retrospective analysis of symptoms related to ICD and punding who had been referred spontaneously.Results: Only 20 cases (9.26%) of 216 patients with PD who answered the questionnaire prospectively presented ICD and / or punding, some involving more than one type of repetitivebehaviour and reward-seeking: 7 hypersexuality (3.24%), 2 p athological gambling (0.93%), 4 compulsive buying (1.85%), 2 compulsive eating (0.93%), 8 punding (3.70%) and 1 abuse ofmedication (0.46%).Of the retrospective sample of 216 patients age- and gender-matched, only5 patients (2,31%) had spontaneously mentioned these symptoms: 2 hypersexuality (0.93%), 2pathological gambling (0.93%) and 1 punding (0.46%). Conclusions: Patients with PD do not spontaneously admit the presence of ICD or punding andthese behaviours appear to be under-recognised in clinical practice. A screening questionnaire is needed to ensure their detection (AU)
Asunto(s)
Humanos , Masculino , Femenino , Persona de Mediana Edad , Anciano , Anciano de 80 o más Años , Enfermedad de Parkinson/psicología , Trastornos Disruptivos, del Control de Impulso y de la Conducta/psicología , Conducta Estereotipada , Estudios Retrospectivos , Conducta Adictiva , Entrevista PsicológicaAsunto(s)
Encefalopatías/complicaciones , Trastornos Neurológicos de la Marcha/complicaciones , Tiroiditis Autoinmune/complicaciones , Tiroxina/uso terapéutico , Anciano , Encefalopatías/diagnóstico , Femenino , Trastornos Neurológicos de la Marcha/diagnóstico , Humanos , Tiroiditis Autoinmune/diagnóstico , Tiroiditis Autoinmune/tratamiento farmacológicoAsunto(s)
Enfermedades de los Genitales Masculinos/etiología , Koro/diagnóstico , Dolor/etiología , Anciano , Humanos , Masculino , SíndromeRESUMEN
La arteriopatía cerebral autosómica dominante con infartos subcorticales y leucoencefalopatía (CADASIL) es una enfermedad hereditaria de inicio adulto que se caracteriza por migraña, ictus de repetición y demencia subcortical. Otras manifestaciones descritas son trastornos psiquiátricos, crisis comiciales, hipoacusia o alteraciones del aprendizaje. El CADASIL debe ser sospechada en base al síndrome clínico, una historia familiar positiva y la observación en la resonancia magnética craneal de hiperintensidades de sustancia blanca en T2/FLAIR que típicamente afetan al polo temporal y a la cápsula externa. A menudo también se observan pequeños infartos subcorticales. El acúmulo de material osmiófilo granular en la biopsia cutánea puede ayudar al diagnóstico. Mutaciones en el gen NOTCH3 localizado en el cromosoma 19 son la base de la patogénesis. En España sólo se han publicado datos de 11 familias afectas de CADASIL. Describimos dos miembros de una nueva familia española con clínica y neuroimagen de CADASIL. La biopsia cutánea fue negativa. En ambos encontramos una mutación 346C>T en el exón 3 del gen NOTCH3. Es la primera familia española publicada con esta mutación 346C>T en el gen NOTCH3 que, sin embargo, ha sido frecuentemente descrita en series europeas (AU)
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an adult-onset inherited condition characterized by migraine, recurrent strokes, and subcortical dementia. Other manifestations as psychiatric disturbances, seizures, hypoacusia or learning disorders have been reported. CADASIL may be suspected based on clinical syndrome, a positive family history, and a typical cranial magnetic resonance image with T2/FLAIR hyperintense signals in the temporopolar white matter or the external capsule. Bilateral white matter abnormalities are invariably seen and often small subcortical infarcts are also present. Accumulation of the granular osmiophilic material on skin biopsy may help in diagnosis. Mutations in the NOTCH3 gene localized in chromosome 19 are involved in its pathogenesis. Only 11 families from Spain have been reported. Here we describe two members of a family with clinical symptoms and neuroimaging of CADASIL. The skin biopsy was negative. In both patients 346C>T mutation in exon 3 of NOTCH3 gene was found. There is the first Spanish family reported with CADASIL, caused by the 346C>T mutation in NOTCH3 gene which was frequently described in the European series (AU)