Molecular imaging in hereditary forms of parkinsonism.

The development of in vivo molecular imaging to evaluate the dopamine (DA) system with positron-emission tomography and single photon emission computed tomography has been of key importance on monitoring in vivo nigrostriatal neuronal loss in Parkinson's disease (PD), mostly through assessments of pre- and post-synaptic DA receptors. The discoveries of genes related to hereditary forms of parkinsonism (PARK1, PARK2, PARK6, PARK7 and PARK8) have increased our understanding either of distinct subtypes of clinical expression in PD or its etiology. This article revises current data on molecular neuroimaging of genetic forms of parkinsonism comparing and contrasting its main features with the classical sporadic forms. Awareness of the spectrum variance in the genotype and its respective PD phenotype are useful to distinguish different pathophysiological mechanisms of PD.

Alcohol-sensitive hereditary essential myoclonus with dystonia: a study of 6 Brazilian patients.

We present the clinical profile of a group of patients with myoclonus and dystonia sensitive to alcohol and address these cases in the context of essential myoclonus. Six patients from 4 families were selected: 4 men and 2 women with myoclonus affecting predominantly the arms. Active movements of these segments elicited the dystonic and myoclonic movements. A marked improvement with alcohol intake was seen. Laboratory findings including EEG, SSEP, and cranial CT and MRI were normal. Surface EMG recording showed bursts with duration of 30-112 ms in 3 patients. One patient showed a triphasic recording pattern (agonist-antagonist-agonist) of ballistic type. Our findings suggest that the myoclonus-dystonia disorder is present in Brazilian patients.

Complex partial seizures and aphasia as initial manifestations of non-ketotic hyperglycemia. Case report.

We describe a case of non-ketotic hyperglycemia (NKH), heralded by complex partial seizures and aphasia of epileptic origin, besides versive and partial motor seizures. This clinical picture was accompanied by left fronto-temporal spikes in the EEG. The seizures were controlled by carbamazepine only after the control of the diabetes. A month later, carbamazepine was discontinued. The patient remained without seizures, with normal language, using only glybenclamide. Complex partial seizures, opposed to simple partial seizures, are rarely described in association to NKH. Epileptic activity localized over language regions can manifest as aphasia.

[Stereotaxic thalamotomy and pallidotomy with computerized planning in Parkinson's disease: short-term evaluation of motor function in 50 patients]. / Talamotomia e palidotomia estereotáxica com planejamento computadorizado no tratamento da doença de Parkinson. Avaliação do desempenho motor a curto prazo de 50 pacientes.

We evaluated the motor function of 50 patients with Parkinson's disease, who underwent stereotaxic surgery with computerized planning, without ventriculography (ventrolateral thalamotomy- VLT- and/or posteroventral pallidotomy- PVP) before and one month after surgery. 27 unilateral TVL, 10 unilateral PVP, 6 bilateral PVP, and 7 TVL with PVP were performed. The motor evaluation was performed with the Unified Parkinson's Disease Rating Scale, motor score, during on and off periods. We observed a global motor improvement in all groups. The improvement of dyskinesias was obtained in the contralateral side of the body, in the PVP groups. From the 50 patients, 16 (32%) presented post-operative complications, 9 of these (56.25%) improved completely, 6 (37.25%) improved partially, and 1 (6.25%) did not improve during the first month. These results were considered satisfactory, and a long term analysis will show whether these benefits are long lasting or not.

[Fibrinogen as independent risk factor for ischemic stroke]. / Fibrinogênio como fator de risco independente de doença vascular cerebral.

We have studied fibrinogen levels (Clauss technique) in atherothrombotic ischemic stroke patients, in order to determine its role as a thrombogenic risk factor. Twenty nine patients (20 men and 9 women) between 25 and 79 years old were studied; they all have had a atherothrombotic stroke. They were classified into two groups according to the result of their carotid doppler ultrasonography: gl-without carotid flow reduction (n = 19) and g2-with carotid flow reduction (n = 10). The fibrinogen mean value was 269 mg/dl in gl and 353 mg/dl in g2. There were 47% of patients in gl and 80% of patients in g2 who presented levels > 300 mg/dl. The proportions of the groups were significantly different (p < 0.05). Considering the epidemiological value of 300 mg/dl, we conclude that the fibrinogen can be an independent risk factor for ischemic atherothrombotic stroke, specially in those whose carotid flow is reduced.

[Early onset Parkinson's disease. Critical review of the literature]. / Considerações a respeito da doença de Parkinson de início precoce. Revisão crítica da literatura.

Since its original description Parkinson's disease has been considered as a clinical condition which affects older people. Nonetheless, since late in the last century, cases starting in very young age have been described. A great controversy has arisen concerning the real pathology in these cases and, consequently, how should they be named. Early or young onset parkinsonism, early or young onset Parkinson's disease, juvenile parkinsonism, all these terms have been used indistinguishable. There have been few pathological descriptions in early onset parkinsonism. Some show striking differences from the cases of older patients but others are very similar to what has been considered classical Parkinson's disease. Younger starting age usually corresponds to greater possibility of other family members being affected. Dyskinesias and fluctuations due to chronic levodopa treatment are an early and almost invariable complication in the course of young patients. Comments on several aspects based on an extensive literature review are presented.

Facial nerve electroneurography. Variability in normal subjects.

Twenty normal individuals were submitted to facial nerve electroneurography using different techniques in order to determine the most accurate to obtain the latencies and amplitudes of the compound muscle action potentials (CMAP) of the facial muscles. First of all it was determined in which muscle or muscle group highest amplitude CMAP could be recorded with the lowest variability between sides and in test-retest. Different techniques were studied in order to determine which could give the best results. This was shown to be an arrangement of bipolar surface electrodes fixed to a plastic bar. The records with higher amplitude where obtained from the nasolabial fold muscles. Therefore 65 normal volunteers were examined using this technique and recording the potentials obtained over the nasolabial fold muscles. Normal values were determined (latency lower than 4.5 ms and amplitude larger than 2 mV--95% confidence limits).

Facial electroneurography in Bell's palsy. Variability in the early stage and comparison between interpretation methods.

To determine the variability of the abnormalities found in the electroneurography (ENG) of the facial nerve in cases of Bell's palsy during the initial two week period was one of the objectives of the authors. A second one was to investigate the value of ENG as a tool to determine an early prognosis of recovery utilizing two different methods. In the first one the amplitude of the compound muscular action potential (CMAP) obtained on the paralyzed side was compared to this potential on the opposite (normal) side. The second method compared the CMAP on the paralyzed side to normal standardized data from normal individuals. A group of 33 patients with Bell's palsy was followed until total recovery of for at least 4 months, if the recovery was not achieved earlier. It was observed that amplitude of the CMAP become stable towards the sixth day of palsy and this is a good time to establish the prognosis. Another conclusion is that both methods were equivalent to determine the prognosis in Bell's palsy.

[Chorea: clinical analysis of 119 cases]. / Coréia. Análise clínica de 119 casos.

Chorea is a clinical syndrome characterized by abnormal involuntary arrhythmic movements, randomly distributed in time, affecting mainly the distal parts of the limbs. There are many diseases associated with chorea but the distribution of the etiologies vary too much in different parts of the world. We intended to study the etiologies of chorea in a Movement Disorders Unit of a university hospital-based outpatient clinic in Brazil. We studied the records of 119 patients with chorea based in the diagnostic criteria of the World Federation of Neurology. Sydenham's chorea (SC) was the most frequent cause of chorea (51.3%) of our sample. Other common causes were Huntington's chorea (18.5%) and chorea post-stroke (9.2%). SC is not commonly seen in developed countries nowadays but is not rare in Brazil. SC patients generally have the clinical manifestation of it in the first 20 years of age and girls are more affected than boys and this feature was observed in our sample. Based on our own experience and in the review of the literature we propose an etiological classification of chorea.

[Postural tremor and dystonia. Clinical aspects and physiopathological considerations]. / Tremor postural e distonia. Aspectos clínicos e considerações fisiopatológicas.

The coexistence of tremor and dystonia is usually seen but there is not a satisfactory explanation for it. Some consider that essential tremor (ET) and idiopathic dystonia (ID) may be genetically linked. To clarify this relationship we evaluated the frequency of postural hand tremor in ID and symptomatic dystonia (SD) patients. We studied the records of patients with dystonia seen in our Movement Disorders Unit. ID was considered when there was no other neurological abnormality in the examination aside from dystonia, normal laboratorial tests and neuroimaging related to dystonia, and a negative past history for any known cause for it, except for genetic predisposition. We analyzed the clinical characteristics of dystonia and the occurrence of postural tremor. We collected 185 patients, being 120 with ID and 65 with SD. Tremor was seen in 27 (22.5%) of ID and 14 (21.5%) of SD. Tremor was present in either focal, segmental or generalized dystonia in both ID and SD. Family history for ET was absent in all patients. The similar frequency of tremor in ID and SD patients suggests that the pathophysiologic derangement resulting in dystonia can favor the development of tremor.

[Essential tremor: clinical characterization in a sample of 176 patients]. / Tremor essencial: caracterização clínica de uma amostra de 176 pacientes.

We reviewed the clinical records of 176 patients with essential tremor (ET) according to sex, age of onset, family history, tremor characteristics and body distribution. The patients were divided into two groups: familial (F) and non familial (NF). A positive family history for tremor was observed in 47.2% of the patients. Action and postural tremor were the most frequent characteristic (49.4%), postural alone in 26.7% and action alone in 9.1%. Rest tremor was recorded in 10.2%, always associated with other characteristics. There were no clinical differences between the F and NF groups. Hands were involved in 94.9% and the head in 26.5%. Isolated tremor of the hands was the most frequent form of presentation with some greater frequency in males. Sixty per cent of the patients who presented head tremor either isolated or not, were females. The presence or absence of family history did not show difference in this proportion. The age of onset ranged between 4 and 85 years. In the F group a lower mean of onset (36.5 years) was seen in males with statistical significance. In male patients with combined action and postural tremor a lower age of onset was found. The fact of a patient having either parent affected by ET produced no difference in the age of onset. Familial or non familial ET bearing some differences, may not be considered as distinct entities.

A study on the action of two calcium channel blockers (verapamil and flunarizine) upon an experimental model of tardive dyskinesia in rats.

Tardive dyskinesia (TD), a serious complications of neuroleptic chronic use, has no effective therapy yet. We performed an experiment to study the action on TD, of the calcium channel blockers (CCB) drugs, verapamil and flunarizine. We obtained the TD model in rats, administering haloperidol for a 21-day period. After this, the stereotyped movement induced by apomorphine was rated. The CCB drugs were administered in acute (in the 28th day) and chronic (for 8 days, after the 25th day) experiments. Acutely, verapamil increased the stereotyped behaviour, and promoted a reduction of it in the chronic experiment. The results suggest that CCB drugs should be tested in clinical trials of TD.

[Treatment of Meige disease with a GABA receptor agonist]. / Tratamento da doença de Meige com droga agonista de receptores GABA.

The spontaneous occurrnce of blepharospasm and dystonic movements in face muscles, particularly those of the perioral and mandibular regions, has been named Meige's disease. Other dystonic features as spasmodic torticollis, dysphagia, spasmodic dysphonia and segmental dystonia of the limbs may, eventually, be present in the same patient. There is very little knowledge about the pathology of this disease. Many hypotheses concerning the pathophysiology of this entity have been put forward, most of them correlating the clinical response to several drugs with known action on the neurotransmitter system of the brain. There are some evidences that it may exist a dopaminergic preponderance in the disease. In the nigro-striatal pathway, one of the retrograde loops in the feed-back control of dopamine synthesis by nigral neurons is dependent on GABA. Increasing GABA activity through GABA agonists that cross the blood-brain barrier could result in a decreased dopaminergic action in the nigro-striatal pathway and, thus, ameliorate the dystonic symptoms which might have been produced by its increased function. We have used baclofen, a GABA-agonist drug, to treat five patients with Meige's disease, in a single-blinded trial. These were four females and one male, with age ranging from 50 to 63 years. The drug was started at 20mg/day, being increased by 10mg each three days reaching a maximum dose of 70mg/day. One of the patients showed marked improvement of blepharospasm and orofacial dystonia and a second patient had a moderate improvement in the same symptoms. Another patient showed moderate improvement of limb dystonia, but had no benefit in the facial movements.(ABSTRACT TRUNCATED AT 250 WORDS)

[Semiologic value of erythrocyte macrophages in the cerebrospinal fluid]. / Valor semiológico dos macrófagos hemáticos no líquido cefalorraquiano.

An investigation was made in the cerebrospinal fluid of 82 patients who had bleeding into the subarachnoid space or other neurologic disorders in order to study the macrophages. The ages of these patients ranged from 24 hours to 80 years. It was verified that the macrophages with red blood cell could be demonstrated from 24 hours until 30 days after the onset of the bleeding. The macrophages with hemosiderin were observed after the 6th day after the onset of the bleeding, and they could be seen in some cases after 70 days. It was discussed the assertion that the simultaneous presence of red blood cell and hemosiderin in the cytoplasm always indicates repeated hemorrhage. In a 24-hour-old newborn baby with bleeding in the subarachnoid space it was found macrophage with hemosiderin. This anomalous finding pointed out to hemorrhage during the intrauterine life.