Identificação de manifestações de wearing-off (redução do efeito da levodopa) em pacientes com doença de Parkinson utilizando questionário específico e comparação dos resultados com avaliações ambulatoriais de rotina

This study had the objective to verify if the presence of wearing-off phenomenon in patients with Parkinson's disease (PD) could be better identified by the administration of the "Wearing-off Questionnaire Card" (QC). The participant patients were first evaluated by resident doctors in neurology and then invited to answer the QC for detection of motor and nonmotor wearing-off manifestations. Seventy and nine patients were enclosed in the study. The questionnaire revealed that 63 patients (80%) presented wearing-off, whereas the consultation by the resident doctors only identified 33 subjects (41%) with this phenomenon. The motor wearing-off manifestations were more frequent then the nonmotor. We conclude that the administration of the QC in patients with PD may be a useful tool for the diagnosis of wearing-off phenomena.Este estudo teve como objetivo verificar se a presença do fenômeno wearing-off em pacientes com doença de Parkinson pode ser melhor identificada pela aplicação do cartão questionário wearing-off (QC). Os pacientes participantes foram avaliados pelos médicos residentes em neurologia e depois foram convidados a responder as questões do QC para detecção das manifestações motoras e não motoras do wearing-off. O número de pacientes estudados foi de 79. O questionário revelou que 63 pacientes (80%) apresentaram wearing-off, enquanto que a consulta dos residentes identificou apenas 33 indivíduos (41%) com este fenômeno. As manifestações motoras foram mais freqüentes do que as não motoras. Nós concluímos que a aplicação do QC em pacientes com doença de Parkinson pode ser uma ferramenta útil para o diagnostico do fenômeno wearing-off

Cognitive impairment and dementia in Parkinson's disease: clinical characteristics and treatment

BACKGROUND: Parkinson disease (PD) is a progressive illness of undetermined cause with characteristic motor findings that include rest tremor, rigidity, bradykinesia, and postural disturbance. But cognitive impairment is common even in nondemented. In addition PD has been associated with an increased risk of developing dementia. OBJECTIVES: This review provides an analysis of the cognitive impairment associated with PD, about its aspects, risk factors, pathophysiology, and treatment. METHODS: The current review incorporates articles obtained through Medline. RESULTS: Non-demented and demented patients with Parkinson's disease are impaired in several cognitive tasks. These impairments may be attributed to dysfunction the circuits connecting the frontal cortical regions and the basal ganglia. Mild cognitive dysfunctions may progress to dementia in some patients. Some risk factors for the development of dementia were identified and aspects of pathophysiology were disclosed. CONCLUSION: Neuropsychological profile of PD, which predominantly reflects frontal dysfunction, may be attributed to disruption of the frontoestriatal circuitry. But the pathophysiology underlying dementia in PD is not completely understood. Cholinesterase inhibitors and memantine have a modest effect against cognitive symptoms. Early detection of risk factors for development of dementia may help to create preventive strategies.CONTEXTO: A doença de Parkinson (DP) é uma moléstia progressiva de causa desconhecida, com características motoras que incluem tremor de repouso, rigidez, bradicinesia e alterações posturais. Mas o comprometimento cognitivo é comum mesmo nos indivíduos não dementes. Somando-se a isso, a DP associa-se a um aumento de risco de desenvolver demência. OBJETIVOS: Esta revisão analisa a perda cognitiva associada à DP, sobre seus aspectos, fatores de risco, fisiopatologia e tratamento. MÉTODOS: Esta revisão incorporou artigos obtidos pelo Medline. RESULTADOS: Pacientes com DP, com ou sem demência, têm desempenho reduzido em vários testes cognitivos. Essa redução cognitiva pode ser atribuída à disfunção dos circuitos conectores da região frontal aos núcleos da base. Distúrbio cognitivo leve pode progredir para demência em certos pacientes. Identificaram-se alguns fatores de risco para o desenvolvimento de demência e revelaram-se aspectos sobre a fisiopatologia. CONCLUSÃO: As características neuropsicológicas da DP, as quais refletem predominantemente disfunção frontal, podem ser atribuídas a anormalidades do circuito fronto-estriatal. Mas a fisiopatologia responsável pela demência associada à DP não está completamente compreendida. Anticolinesterásicos e memantina têm um modesto efeito contra sintomas cognitivos. Detecção precoce dos fatores de risco para o desenvolvimento de demência pode ajudar a criar estratégias preventivas

Relação entre transtorno obsessivo-compulsivo e doenças neurológicas dos gânglios da base

O transtorno obsessivo-compulsivo (TOC) tem sido reportado em associação com algumas doenças neurológicas que afetam primariamente os gânglios da base como a síndrome de Tourette , a coréia de Sydenham, a doença de Parkinson e a doença de Huntington. Da mesma forma, estudos de neuroimagem sugerem a participação dos gânglios da base na fisiopatologia do TOC. O objetivo deste estudo é rever a coexistência de TOC e várias doenças que afetam os gânglios da base, as evidências da participação dessas estruturas na fisiopatologia do TOC e os mecanismos neurais subjacentes a esse distúrbio psiquiátrico.Obsessive-compulsive disorder (OCD) has been reported in association with some neurological diseases that affect the basal ganglia such as Tourette's syndrome, Sydenham's chorea, Parkinson's disease, and Huntington's disease. Furthermore, studies such as neuroimaging, suggest a role of the basal ganglia in the pathophysiology of OCD. The aim of this paper is to describe the association of OCD and several neurologic disorders affecting the basal ganglia, report the existing evidences of the role of the basal ganglia in the pathophysiology of OCD, and analyze the mechanisms probably involved in this pathophysiology

Wilson's disease in southern Brazil: a 40-year follow-up study

BACKGROUND: Long-term data on the clinical follow-up and the treatment effectiveness of Wilson's disease are limited because of the low disease frequency. This study evaluated a retrospective cohort of Wilson's disease patients from southern Brazil during a 40-year follow-up period. METHODS: Thirty-six Wilson's disease patients, diagnosed from 1971 to 2010, were retrospectively evaluated according to their clinical presentation, epidemiological and social features, response to therapy and outcome. RESULTS: Examining the patients' continental origins showed that 74.5% had a European ancestor. The mean age at the initial symptom presentation was 23.3 ± 9.3 years, with a delay of 27.5 ± 41.9 months until definitive diagnosis. At presentation, hepatic symptoms were predominant (38.9%), followed by mixed symptoms (hepatic and neuropsychiatric) (30.6%) and neuropsychiatric symptoms (25%). Kayser-Fleischer rings were identified in 55.6% of patients, with a higher frequency among those patients with neuropsychiatric symptoms (77.8%). Eighteen patients developed neuropsychiatric features, most commonly cerebellar syndrome. Neuroradiological imaging abnormalities were observed in 72.2% of these patients. Chronic liver disease was detected in 68% of the patients with hepatic symptoms. 94.2% of all the patients were treated with D-penicillamine for a mean time of 129.9 ± 108.3 months. Other treatments included zinc salts, combined therapy and liver transplantation. After initiating therapy, 78.8% of the patients had a stable or improved outcome, and the overall survival rate was 90.1%. CONCLUSION: This study is the first retrospective description of a population of Wilson's disease patients of mainly European continental origin who live in southern Brazil. Wilson's disease is treatable if correctly diagnosed, and an adequate quality of life can be achieved, resulting in a long overall survival

Randomized controlled trial protocol: balance training with rhythmical cues to improve and maintain balance control in Parkinson’s disease

Abstract\ud \ud Background\ud Postural instability is a particularly incapacitating disorder, whose loss of motor independence by Parkinson´s Disease (PD) patients marks a significant stage of disease onset. Evidence suggests that deficits in automatic motor control, sensory integration and attention are associated with the lack of balance in PD. Physiotherapy together with medication play an important role in the treatment of this state, although no consensus has been reached on the best treatment modality. The aim of this randomized controlled trial protocol is to evaluate the effects of balance training with rhythmical (BRT), which is a motor program to improve balance associated with rhythmical auditory cues (RACs). This study is ongoing in the stage 1.\ud \ud \ud Methods and design\ud A total of 150 PD patients at H&Y stages II–III and asymptomatic for depression and dementia are enrolled in a single-blind randomized study. Randomization is achieved via a computer-generated random-sequence table. All patients should also present a fall history. They will be assigned into one of three groups, and their balance and gait will be assessed before and after 10 training sessions, and after 4 and 30 weeks subsequent to the end of the training. The BRT group will receive a motor program to improve balance associated with RACs, the MT group will perform motor training with the same aims as those in the BRT group but without RACs, and the control group (CG) will be trained only in orientations. The exercise program specific to balance is of 5 weeks’ duration with two sessions per week, 45 min each, and consists of general physiotherapy exercises. Each session will be divided into five warm-up minutes—30 min for the main part and 10 min for the cool down. The training progresses and intensifies each week depending on the individual’s performance. The subjects should be able to execute 10 repetitions of the exercise sequences correctly to progress to the next movement.\ud \ud \ud Discussion\ud This randomized study protocol will evaluate the effects of a motor program designed to improve balance associated with RACs, and will also assess whether balance training leads to activation of balance reactions at the appropriate time. We hypothesize that if this motor program is maintained long-term, it will prevent falls.\ud \ud \ud Trial registration\ud Clinicaltrials.gov \ud NCT02488265\ud \ud ; Ethics Committee of the University of São Paulo Faculty of Medicine Clinics Hospital 1.102.464

Alterações de linguagem na doença de Huntington

Language alterations in Huntington's disease (HD) are reported, but their nature and correlation with other cognitive impairments are still under investigation. This study aimed to characterize the language disturbances in HD and to correlate them to motor and cognitive aspects of the disease. We studied 23 HD patients and 23 controls, matched for age and schooling, using the Boston Diagnostic Aphasia Examination, Boston Naming Test, the Token Test, Animal fluency, Action fluency, FAS-COWA, the Symbol Digit Modalities Test, the Stroop Test and the Hooper Visual Organization Test (HVOT). HD patients performed poorer in verbal fluency (p&lt;0.0001), oral comprehension (p&lt;0.0001), repetition (p&lt;0.0001), oral agility (p&lt;0.0001), reading comprehension (p=0.034) and narrative writing (p&lt;0.0001). There was a moderate correlation between the Expressive Component and Language Competency Indexes and the HVOT (r=0.519, p=0.011 and r=0.450, p=0.031, respectively). Language alterations in HD seem to reflect a derangement in both frontostriatal and frontotemporal regions.Alterações de linguagem são descritas na doença de Huntington (DH), mas sua natureza exata e a correlação com outras funções cognitivas ainda estão em investigação. Os objetivos deste estudo foram caracterizar o prejuízo de linguagem na DH e correlacioná-lo aos aspectos motores e cognitivos da doença. Foram estudados 23 pacientes com DH e 23 controles, equiparados quanto à idade e escolaridade. Usamos os testes de Boston para Diagnóstico da Afasia, de Nomeação de Boston, Token, Modalidades de Símbolos e Dígitos, Stroop, Organização Visual de Hooper (TOVH), fluência de animais, fonêmica e verbos. Pacientes com DH apresentaram pior desempenho na fluência verbal (p<0,0001), compreensão oral (p<0,0001), repetição (p<0,0001), agilidade oral (p<0,0001), compreensão de leitura (p=0,034) e narrativa escrita (p<0,0001). Houve correlação moderada entre os índices Componente de Expressão e Competência de Linguagem e o TOVH (r=0,519, p=0,011 e r=0,450, p=0,031, respectivamente). Alterações de linguagem na DH parecem refletir prejuízos nas regiões frontostriatais e frontotemporais.Fundacao de Amparo a Pesquisa do Estado de Sao Paulo (FAPESP)FAPESP - Fundacao de Amparo a Pesquisa do Estado de Sao Paulo [03/04048-6

Ultrassonografia transcraniana na doença de Parkinson

Transcranial sonography has become a useful tool in the differential diagnosis of parkinsonian syndromes. This is a non-invasive, low cost procedure. The main finding on transcranial sonography in patients with idiopathic Parkinson's disease is an increased echogenicity of the mesencephalic substantia nigra region. This hyperechogenicity is present in more than 90% of cases, and reflects a dysfunction in the dopaminergic nigrostriatal pathway. This study discussed how the hyperechogenicity of the substantia nigra may facilitate the differential diagnosis of parkinsonian syndromes.A ultrassonografia transcraniana tem se tornado ferramenta útil no diagnóstico diferencial das síndromes parkinsonianas. Trata-se de um método não invasivo e de baixo custo. O principal achado da ultrassonografia transcraniana em pacientes com doença de Parkinson idiopática é o aumento da ecogenicidade, ou hiperecogenicidade, na região da substância negra mesencefálica, presente em mais de 90% dos casos, o que reflete disfunção da via dopaminérgica nigroestriatal. O presente trabalho abordou como a hiperecogenicidade da substância negra pode auxiliar no diagnóstico diferencial das síndromes parkinsonianas.Universidade de São Paulo Division of Clinical NeurosurgeryHospital Israelita Albert EinsteinUniversidade Federal de São Paulo (UNIFESP) Department of Neurology and NeurosurgeryHospital Israelita Albert Einstein Instituto do CérebroUNIFESP, Department of Neurology and NeurosurgerySciEL