RESUMEN
INTRODUCTION: Several gender differences have been reported in Parkinson's Disease (PD). We evaluated the burden of non-motor symptoms (NMS) in PD and the possible gender differences in their occurrence. METHODS: The FRAGAMP study is a large multicenter case-control study. PD patients and controls underwent a face-to-face interview and a neurological examination performed by trained neurologists. Presence of NMS was investigated using a standardized questionnaire; cognitive impairment and depression were assessed using the Mini Mental State Examination and the Hamilton Depression Rating Scale respectively. RESULTS: 585 PD patients (59.5% men) and 481 controls (34.9% men) were enrolled in the study. All NMS were significantly more frequent among PD patients than controls. PD women showed a significantly higher frequency of depression and urinary disturbances than parkinsonian men; a close frequency among PD women and men was recorded for hallucination, cognitive impairment and sleep disorders. Nonetheless, with respect to the control population, according to logistic regression stratified by sex and adjusted by age, PD men showed a stronger positive significant association with almost all NMS compared to women, excepting for urinary disturbances. The strongest association among PD men was recorded for cognitive impairment (adjusted OR 5.44 for men and 2.82 for women) and depression (adjusted OR 30.88 for men and 12.72 for women). CONCLUSIONS: With respect to the general population, presence of NMS was stronger associated with male gender. Our data suggest that the presence of NMS among PD men is more strictly due to the neurodegenerative processes related to PD.
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Enfermedades Gastrointestinales/fisiopatología , Enfermedad de Parkinson/fisiopatología , Caracteres Sexuales , Trastornos del Sueño-Vigilia/fisiopatología , Anciano , Estudios de Casos y Controles , Trastorno Depresivo , Femenino , Enfermedades Gastrointestinales/diagnóstico , Enfermedades Gastrointestinales/psicología , Humanos , Masculino , Persona de Mediana Edad , Enfermedad de Parkinson/diagnóstico , Enfermedad de Parkinson/psicología , Factores de Riesgo , Trastornos del Sueño-Vigilia/diagnóstico , Trastornos del Sueño-Vigilia/psicologíaRESUMEN
OBJECTIVE: To assess whether cigarette smoking interferes with dopaminergic transmission in current- and never-smoking patients with Parkinson's disease. MATERIALS AND METHODS: Striatal [123I]FP-CIT single photon emission computed tomography was performed in 67 patients with Parkinson's disease (35 women and 32 men aging 60.8 ± 10.1 years and staging 1.76 ± 0.5 on the Hoehn and Yahr scale). At study time, there were 13 current-smokers and 54 never-smokers. RESULTS: Current-smokers showed a significantly lower putamen/occipital [123I]FP-CIT ratio and a non-significant trend to a lower caudate/occipital [123I]FP-CIT ratio uptake. Current-smokers were also characterized by a lower off UPDRS-III motor score. A logistic regression analysis adjusted for age, sex, disease duration, Hoehn and Yahr staging, and medication indicated a significant lower [123I]FP-CIT uptake not only in the putamen (odds ratio, 0.1; 95% confidence interval, 0.01 to 0.65; P = 0.02) but also in the caudate (odds ratio, 0.2; 95% confidence interval, 0.04 to 0.71; P = 0.015) as well as a lower UPDRS-III motor score (odds ratio, 0.9; 95% confidence interval, 0.81 to 0.99; P = 0.04) in current-smokers. CONCLUSIONS: The lower [123I]FP-CIT uptake together with the lower UPDRS-III motor score observed in our current-smokers patients with Parkinson's disease (even taking into account variables that are probably expression of dopaminergic neuron decline and treatment) would support an effect of smoking on dopaminergic synaptic mechanisms.
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Proteínas de Transporte de Dopamina a través de la Membrana Plasmática/metabolismo , Enfermedad de Parkinson/epidemiología , Fumar/epidemiología , Anciano , Cuerpo Estriado/diagnóstico por imagen , Estudios Transversales , Femenino , Humanos , Procesamiento de Imagen Asistido por Computador , Masculino , Persona de Mediana Edad , Movimiento , Lóbulo Occipital/diagnóstico por imagen , Enfermedad de Parkinson/diagnóstico por imagen , Enfermedad de Parkinson/fisiopatología , Putamen/diagnóstico por imagen , Radiofármacos , Tomografía Computarizada de Emisión de Fotón Único , TropanosRESUMEN
BACKGROUND AND PURPOSE: Action tremor may occur in patients with Parkinson's disease and cause misdiagnosis with other movement disorders such as essential tremor and dystonia. Data on the frequency of action tremor in Parkinson's disease and on the relationships with other motor and non-motor signs are limited. METHODS: A cross-sectional study of 237 patients with Parkinson's disease staging 1-2 on the Hoehn-Yahr scale was conducted. Data on action tremor and other motor and non-motor signs were collected using the Unified Parkinson's Disease Rating Scale part III and the Non-Motor Symptoms Scale. RESULTS: Action tremor was found in 46% of patients and was associated with both severity of rest tremor (adjusted odds ratio 3.0, P < 0.001) and severity of rigidity (adjusted odds ratio 1.5, P = 0.004). No association was found between action tremor and severity of bradykinesia (adjusted odds ratio 0.97, P = 0.4) or axial symptoms (adjusted odds ratio 0.9, P = 0.3). Moreover, patients who had action tremor reported a significant lower mean number of non-motor symptoms than those who had not (2.1 ± 1.3 vs. 2.4 ± 1.3; P = 0.04). CONCLUSIONS: Action tremor is a relatively frequent motor sign in patients with Parkinson's disease staging 1-2 on the Hoehn-Yahr scale. Action tremor correlates with rest tremor and rigidity and may be associated with a lower burden of non-motor symptoms. These findings suggest a contribution of non-dopaminergic mechanisms to action tremor pathophysiology.
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Enfermedad de Parkinson/fisiopatología , Temblor/fisiopatología , Anciano , Estudios Transversales , Femenino , Humanos , Hipocinesia/etiología , Hipocinesia/fisiopatología , Masculino , Persona de Mediana Edad , Enfermedad de Parkinson/complicaciones , Índice de Severidad de la Enfermedad , Temblor/etiologíaRESUMEN
BACKGROUND: Hyperhomocysteinemia has been associated with cognitive dysfunction and dementia. The incidence of dementia in Parkinson's Disease (PD) patients is higher than in the general population and plasma Homocysteine concentrations are increased in L-dopa treated PD patients. OBJECTIVE: We evaluated the possible correlations between L-Dopa related hyperhomocysteinemia and cognitive dysfunction in PD. METHODS: A Medline literature search was performed to identify all published studies on Homocysteine and cognitive dysfunction and dementia during the course of PD from 1966 to 31/03/2010. RESULTS: Sixteen studies were found for review; ten studies focused on homocysteine and cognitive dysfunction in PD patients, five on homocysteine and PD dementia and two on homocysteine and markers of neurodegeneration in PD. The design of the study was retrospective in 14 studies, while 2 had a prospective design, with a variable follow-up period (from 24-weeks to 2 years). In most of the studies plasma homocysteine levels significantly correlated with cognitive functions, dementia and markers of neurodegeneration in PD patients. However, some studies did not confirm these findings. Several factors may concur to explain these partially conflicting results, including the retrospective design of the studies, their small sample size, their high percentage of excluded patients, and the use of a wide range of neuropsychological tasks in assessment of cognitive dysfunctions across the available studies. CONCLUSIONS: Available data seem to indicate a potential role of L-dopa related hyperhomocysteinemia on cognitive impairment and dementia during the course of PD.
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Antiparkinsonianos/efectos adversos , Trastornos del Conocimiento/etiología , Demencia/etiología , Hiperhomocisteinemia/etiología , Levodopa/efectos adversos , Enfermedad de Parkinson/complicaciones , Antiparkinsonianos/uso terapéutico , Homocisteína/metabolismo , Humanos , Levodopa/uso terapéutico , Neuronas/metabolismo , Enfermedad de Parkinson/tratamiento farmacológico , Enfermedad de Parkinson/patologíaRESUMEN
OBJECTIVE: To assess the prevalence, nature, and associated phenotypes of ATP13A2 gene mutations among patients with juvenile parkinsonism (onset <21 years) or young onset (between 21 and 40 years) Parkinson disease (YOPD). METHODS: We studied 46 patients, mostly from Italy or Brazil, including 11 with juvenile parkinsonism and 35 with YOPD. Thirty-three cases were sporadic and 13 had positive family history compatible with autosomal recessive inheritance. Forty-two had only parkinsonian signs, while four (all juvenile-onset) had multisystemic involvement. The whole ATP13A2 coding region (29 exons) and exon-intron boundaries were sequenced from genomic DNA. RESULTS: A novel homozygous missense mutation (Gly504Arg) was identified in one sporadic case from Brazil with juvenile parkinsonism. This patient had symptoms onset at age 12, levodopa-responsive severe akinetic-rigid parkinsonism, levodopa-induced motor fluctuations and dyskinesias, severe visual hallucinations, and supranuclear vertical gaze paresis, but no pyramidal deficit nor dementia. Brain CT scan showed moderate diffuse atrophy. Furthermore, two Italian cases with YOPD without atypical features carried a novel missense mutation (Thr12Met, Gly533Arg) in single heterozygous state. CONCLUSIONS: We confirm that ATP13A2 homozygous mutations are associated with human parkinsonism, and expand the associated genotypic and clinical spectrum, by describing a homozygous missense mutation in this gene in a patient with a phenotype milder than that initially associated with ATP13A2 mutations (Kufor-Rakeb syndrome). Our data also suggest that ATP13A2 single heterozygous mutations might be etiologically relevant for patients with YOPD and further studies of this gene in Parkinson disease are warranted.
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Predisposición Genética a la Enfermedad/genética , Mutación Missense/genética , Enfermedad de Parkinson/genética , Trastornos Parkinsonianos/genética , ATPasas de Translocación de Protón/genética , Adolescente , Adulto , Edad de Inicio , Encéfalo/patología , Encéfalo/fisiopatología , Brasil/epidemiología , Niño , Estudios de Cohortes , Análisis Mutacional de ADN , Diagnóstico Diferencial , Femenino , Pruebas Genéticas , Genotipo , Humanos , Italia/epidemiología , Masculino , Persona de Mediana Edad , Enfermedad de Parkinson/epidemiología , Trastornos Parkinsonianos/epidemiología , Fenotipo , PrevalenciaRESUMEN
Homocysteine (Hcy) is a risk factor for vascular diseases, cognitive impairment and dementia. L-dopa treatment may represent an acquired cause of hyperhomocysteinemia (HHcy), as evidenced by studies in rats as well as in Parkinson's disease (PD) patients. Folate and cobalamin status also seems to influence the effects of L-dopa on plasma Hcy levels; therefore B-vitamins supplementation has been proposed to reduce the HHcy in L-dopa treated PD patients. Plasma Hcy, folate, and cobalamin levels were evaluated in 20 PD patients treated with L-dopa in the baseline condition and following a 5-week period of treatment with cobalamin and folate; results were compared with 35 controls. Analysis of data revealed that Hcy levels were higher in L-dopa treated PD patients when compared with age- and sex-matched controls and that supplementation of the diet with cobalamin and folate is effective in reducing Hcy concentrations; these findings may have important implications in the treatment of PD patients who are potentially at risk for vascular diseases and cognitive impairment or dementia.
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Antiparkinsonianos/efectos adversos , Ácido Fólico/uso terapéutico , Hiperhomocisteinemia/prevención & control , Levodopa/efectos adversos , Vitamina B 12/uso terapéutico , Anciano , Femenino , Ácido Fólico/sangre , Homocisteína/sangre , Humanos , Hiperhomocisteinemia/sangre , Hiperhomocisteinemia/etiología , Masculino , Persona de Mediana Edad , Enfermedad de Parkinson/sangre , Enfermedad de Parkinson/tratamiento farmacológico , Vitamina B 12/sangreRESUMEN
Elevated plasma homocysteine (Hcy) concentrations have been reported in L-dopa treated Parkinson's disease (PD) patients, suggesting that L-dopa treatment is an acquired cause of hyperhomocysteinemia. Aim of this study is to evaluate the effects of different antiparkinsonian drugs on Hcy concentrations. We compared Hcy, B(12) and folate levels in 45 PD patients (15 treated with dopamine-agonists, 15 with L-dopa and 15 with L-dopa plus a catechol-O-methyltransferase-inhibitor (COMT-I) and in 15 controls. Analysis of data revealed that L-dopa administration significantly increases Hcy concentrations and that the addition of COMT-I effectively reduces the homocysteinemia.
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Antiparkinsonianos/administración & dosificación , Homocisteína/sangre , Levodopa/administración & dosificación , Enfermedad de Parkinson/sangre , Enfermedad de Parkinson/tratamiento farmacológico , Anciano , Inhibidores de Catecol O-Metiltransferasa , Agonistas de Dopamina/administración & dosificación , Inhibidores Enzimáticos/administración & dosificación , Femenino , Ácido Fólico/sangre , Humanos , Masculino , Persona de Mediana Edad , Vitamina B 12/sangreRESUMEN
Progressive supranuclear palsy (PSP or Steele-Richardson-Olszewski syndrome) is one of the most-common types of atypical parkinsonism. To characterize the natural history and the clinical features of PSP, we reviewed the records of 25 patients followed in our clinic since 1991, with a clinical diagnosis of PSP according to NINDS and Golbe criteria. Progressive onset of early bilateral bradykinesia and postural instability with falls during the 5th decade strongly support the diagnosis of PSP in our patients. Pseudobulbar symptoms are very common at onset and during the course of the illness.
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Hipocinesia/etiología , Trastornos del Movimiento/etiología , Trastornos Parkinsonianos/etiología , Parálisis Supranuclear Progresiva/fisiopatología , Edad de Inicio , Anciano , Trastornos del Conocimiento/etiología , Trastornos de Deglución/etiología , Disartria/etiología , Femenino , Estudios de Seguimiento , Humanos , Masculino , Estudios Retrospectivos , Parálisis Supranuclear Progresiva/complicaciones , Parálisis Supranuclear Progresiva/diagnósticoRESUMEN
According to El Escorial criteria, amyotrophic lateral sclerosis (ALS), combined with other neurologic disorders, such as dementia and parkinsonism, is defined as ALS-plus. These overlaping syndromes are extremely rare. Here we report 5 cases (3 men, 2 women) of ALS-plus; mean age at the onset of symptoms was 67 years (range, 65-72). In 3 patients, motoneuronal signs preceded the onset of parkinsonian syndrome. In 4 cases, the clinical picture was characterized by the prevalence of motoneuronal signs. Parkinsonism was poorly responsive to L-dopa treatment in all patients. The clinical course did not differ from that expected in patients with only ALS. Our clinical observations and neuropathological reports of nigral neuronal loss in ALS patients suggest a common pathogenic mechanism underlying these disorders.
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Esclerosis Amiotrófica Lateral/complicaciones , Demencia/complicaciones , Trastornos Parkinsonianos/complicaciones , Anciano , Esclerosis Amiotrófica Lateral/fisiopatología , Antiparkinsonianos/uso terapéutico , Demencia/fisiopatología , Femenino , Humanos , Levodopa/uso terapéutico , Masculino , Trastornos Parkinsonianos/fisiopatologíaRESUMEN
A clinical retrospective study was carried out in a population of 366 Parkinson's disease (PD) outpatients, to analyse the efficacy and tolerability of nonergoline and ergoline dopamine agonist (DA), in monotherapy or in combination with L-dopa. Safety was comparable in both groups except for higher occurrence of gastrointestinal symptoms in ergoline group and somnolence in nonergoline group. No significant difference concerning efficacy and tolerability was found during DA monotherapy. Mean age at PD onset was slightly higher in patients withdrawing DA monotherapy for adverse events comparing to patients who needed the addition of L-dopa (60.36 +/- 7.53 versus 54.88 +/- 10.75; p<0.05), suggesting that older age at the onset of the disease increases the risk for adverse events during DA monotherapy. The follow-up of the remaining patients still in monotherapy with DA will allow a better evaluation of these aspects.
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Envejecimiento/efectos de los fármacos , Agonistas de Dopamina/efectos adversos , Tolerancia a Medicamentos/fisiología , Enfermedad de Parkinson/tratamiento farmacológico , Edad de Inicio , Anciano , Envejecimiento/fisiología , Benzotiazoles , Bromocriptina/administración & dosificación , Bromocriptina/efectos adversos , Agonistas de Dopamina/administración & dosificación , Esquema de Medicación , Interacciones Farmacológicas/fisiología , Quimioterapia Combinada , Ergolinas/administración & dosificación , Ergolinas/efectos adversos , Ergolinas/agonistas , Femenino , Estudios de Seguimiento , Humanos , Indoles/administración & dosificación , Indoles/efectos adversos , Levodopa/administración & dosificación , Levodopa/efectos adversos , Lisurida/administración & dosificación , Lisurida/efectos adversos , Masculino , Persona de Mediana Edad , Pergolida/administración & dosificación , Pergolida/efectos adversos , Pramipexol , Estudios Retrospectivos , Tiazoles/administración & dosificación , Tiazoles/efectos adversos , Resultado del TratamientoRESUMEN
The opsoclonus-myoclonus syndrome is a pathological condition characterized mainly by involuntary myoclonic movements involving ocular, trunk and limb muscles associated with ataxia and other neurological signs.We describe the case of a 30-year-old woman who developed this syndrome 15days after anti-Rubella vaccination. This case suggests a possible autoimmune post-vaccinic etiopathogenesis of opsoclonus-myoclonus syndrome, rarely described in the literature.
RESUMEN
Proton magnetic resonance spectroscopy (1H-MRS), localized to the lentiform nucleus, was carried out in 12 patients with idiopathic Parkinson's disease (IPD), seven patients with multiple-system atrophy (MSA), seven patients with progressive supranuclear palsy (PSP), and 10 healthy age-matched controls. The study assessed the level of N-acetylaspartate (NAA), creatine-phosphocreatine (Cr), and choline (Cho) in the putamen and globus pallidus of these patients. NAA/Cho and NAA/Cr ratios were significantly reduced in MSA and PSP patients. No significant difference was found between IPD patients and controls. These results suggest an NAA deficit, due to neuronal loss, in the lentiform nucleus of MSA and PSP patients. 1H-MRS is a noninvasive technique that can provide useful information regarding striatal neuronal loss in basal ganglia of patients with atypical parkinsonian disorders and represents a potential tool for diagnosing these disorders.
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Corteza Cerebral/patología , Espectroscopía de Resonancia Magnética , Enfermedad de Parkinson Secundaria/patología , Enfermedad de Parkinson/patología , Protones , Anciano , Antiparkinsonianos/uso terapéutico , Ácido Aspártico/metabolismo , Atrofia/patología , Colina/metabolismo , Cuerpo Estriado/metabolismo , Creatinina/metabolismo , Femenino , Globo Pálido/metabolismo , Globo Pálido/patología , Humanos , Levodopa/uso terapéutico , Persona de Mediana Edad , Enfermedad de Parkinson/tratamiento farmacológico , Fosfocreatina/metabolismo , Putamen/metabolismo , Putamen/patología , Parálisis Supranuclear Progresiva/patologíaRESUMEN
OBJECTIVES: Proton magnetic resonance spectroscopy (1H-MRS) localised to the lentiform nucleus, was carried out in eight patients with idiopathic Parkinson's disease and five patients with progressive supranuclear palsy. The aim of the study was to assess the concentration of N-acetyl-aspartate (NAA), creatine and phosphocreatine (Cr), and choline containing compounds (Cho) in the putamen and globus pallidus of these patients. METHODS: Peak ratios obtained from patients were compared with those from nine healthy age matched controls. RESULTS: NAA/Cho and NAA/Cr ratios were reduced significantly in patients with progressive supranuclear palsy. CONCLUSION: These results suggest an NAA deficit, due to neuronal loss, in the lentiform nucleus of these patients. 1H-MRS is a non-invasive technique that can provide useful information concerning striatal neuronal loss in the basal ganglia of patients with parkinsonian syndromes.
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Globo Pálido/metabolismo , Espectroscopía de Resonancia Magnética , Enfermedad de Parkinson/metabolismo , Putamen/metabolismo , Parálisis Supranuclear Progresiva/metabolismo , Anciano , Ácido Aspártico/análogos & derivados , Ácido Aspártico/metabolismo , Cuerpo Estriado/metabolismo , Creatina/metabolismo , Humanos , Persona de Mediana Edad , Fosfocreatina/metabolismo , Estadísticas no ParamétricasRESUMEN
Freezing is a well-known problem in Parkinson's disease (PD) and is characterized by an abrupt difficulty in starting or continuing rhythmic and repetitive movements. We utilized a questionnaire in order to assess the occurrence of the freezing gait phenomenon (FG) in a population of 100 consecutive PD patients. Our PD population included 70 males and 30 females, with a mean age of 61.1 +/- 9.1 years. Mean duration of PD was 6.5 +/- 4.0 years. 92/100 patients were under L-Dopa treatment. The FG phenomenon occurred in 60% of patients. It appeared on average 4.8 years after the beginning of PD; in 16% of the cases it was evident before starting L-Dopa treatment. FG was more frequent among female patients. There was no significant correlation between the occurrence of FG and the age of the patients; on the other hand, a significant correlation was found with the duration of the disease (p < 0.001). FG occurred more frequently in the subgroup of patients with the akinetic form (odds ratio: 3.05); whilst an opposite tendency was evident in the subgroup with the tremor predominant form (odds ratio: 0.29).
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Marcha , Enfermedad de Parkinson/complicaciones , Desempeño Psicomotor , Adulto , Edad de Inicio , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Encuestas y CuestionariosRESUMEN
Topographic color mapping has recently been introduced for the study of ictal EEG manifestations of absences. We recorded 2-4 3/s spike-and-wave (sw) bursts in 12 patients with absence epilepsy, and performed a spectral analysis of the EEG under baseline conditions and during the 2 sec preceding the 3/s sw bursts. An increase in delta and theta bands was found in preseizure conditions. Moreover, the serial mapping of the sw complexes showed a different field distribution of the various components when the first sw was compared with the subsequent ones. In particular, the negative peak of the spike was mainly frontal during the first complex, with a tangentially oriented dipole, but it became better represented over the midline in the following sw, with a radially oriented dipole. We conclude that EEG changes can be detected before the onset of 3/s sw activity in absences, and that they are probably related to the strong inhibitory mechanisms acting in this type of seizure; moreover a frontal cortical mechanism seems to be prevalently active at the beginning of the seizure, which is soon captured by a cortico-subcortical process as the attack progresses.
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Mapeo Encefálico , Encéfalo/fisiopatología , Epilepsia Tipo Ausencia/fisiopatología , Niño , Preescolar , Electroencefalografía , Femenino , Humanos , MasculinoRESUMEN
We studied somatosensory evoked potentials after median nerve stimulation in a sporadic case of dopa responsive dystonia and in two brothers with different combinations of dystonia and parkinsonism. The latencies of all potentials were normal. The amplitude of the P20-N30 frontal complex showed a significant reduction in all cases. Our results suggest a common neurophysiopathological pattern underlying these two conditions.
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Antiparkinsonianos/uso terapéutico , Dihidroxifenilalanina/uso terapéutico , Distonía/tratamiento farmacológico , Potenciales Evocados Somatosensoriales , Nervio Mediano/fisiopatología , Enfermedad de Parkinson/fisiopatología , Adulto , Edad de Inicio , Antiparkinsonianos/administración & dosificación , Ganglios Basales/fisiopatología , Dihidroxifenilalanina/administración & dosificación , Distonía/etiología , Estimulación Eléctrica , Femenino , Humanos , Masculino , Persona de Mediana Edad , Corteza Motora/fisiopatologíaRESUMEN
Somatosensory evoked potentials (SEPs) to median nerve stimulation have been performed before and after apomorphine-test in 10 parkinsonian patients. Latency and amplitude of the P14-N20 parietal complex and of the P20-N30 frontal complex were evaluated. The N30 amplitude was significantly reduced before apomorphine administration (p < 0.001) with a consequent increase of the N20/N30 amplitude ratio (p < 0.001). Eight patients clinically improved after Apomorphine. Following Apomorphine there was no change in the amplitude of the parietal complex P14-N20. On the other hand the frontal complex P20-N30 showed a significant amplitude potentiation (p < 0.005), with a reduction of the N20/ N30 amplitude ratio (ns). This finding was almost constant among the 8 responder patients. These results suggest the utility of combining clinical and neurophysiological data to assess the responsiveness to dopaminergic treatment.
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Apomorfina , Potenciales Evocados Somatosensoriales/efectos de los fármacos , Lóbulo Frontal/efectos de los fármacos , Nervio Mediano/efectos de los fármacos , Enfermedad de Parkinson/fisiopatología , Adulto , Anciano , Estimulación Eléctrica , Femenino , Humanos , Masculino , Persona de Mediana Edad , Tiempo de Reacción/efectos de los fármacosAsunto(s)
Distonía/tratamiento farmacológico , Levodopa/uso terapéutico , Trastornos de la Motilidad Ocular/tratamiento farmacológico , Adulto , Relación Dosis-Respuesta a Droga , Distonía/genética , Femenino , Humanos , Examen Neurológico/efectos de los fármacos , Trastornos de la Motilidad Ocular/genéticaRESUMEN
We report a sporadic case of Dopa responsive dystonia and two families with different combinations of parkinsonism and dystonia. The possible relationships between Dopa responsive dystonia and early onset Parkinson's disease are discussed.