Cerebellar cognitive affective syndrome in Machado Joseph disease: core clinical features.

The cerebellum is no longer considered a purely motor control device, and convincing evidence has demonstrated its relationship to cognitive and emotional neural circuits. The aims of the present study were to establish the core cognitive features in our patient population and to determine the presence of Cerebellar Cognitive Affective Syndrome (CCAS) in this group. We recruited 38 patients with spinocerebellar ataxia type 3 (SCA3) or Machado­Joseph disease (MJD)-SCA3/MJD and 31 controls. Data on disease status were recorded (disease duration, age, age at onset, ataxia severity, and CAG repeat length). The severity of cerebellar symptoms was measured using the International Cooperative Ataxia Rating Scale and the Scale for the Assessment and Rating of Ataxia. The neuropsychological assessment consisted of the Mini-Mental State Examination, Clock Drawing Test, Wechsler Adult Intelligence Scale, Rey­Osterrieth Complex Figure, Wisconsin Card Sorting Test, Stroop Color­Word Test, Trail-Making Test, Verbal Paired Associates, and verbal fluency tests. All subjects were also submitted to the Hamilton Anxiety Scale and Beck Depression Inventory. After controlling for multiple comparisons, spatial span, picture completion, symbol search, Stroop Color­Word Test, phonemic verbal fluency, and Trail-Making Tests A and B were significantly more impaired in patients with SCA3/MJD than in controls. Executive and visuospatial functions are impaired in patients with SCA3/MJD, consistent with the symptoms reported in the CCAS. We speculate on a possible role in visual cortical processing degeneration and executive dysfunction in our patients as a model to explain their main cognitive deficit.

ICAM-1 (Lys469Glu) and PECAM-1 (Leu125Val) polymorphisms in diffuse astrocytomas.

Cell adhesion molecules such as intercellular adhesion molecule-1 (ICAM-1) and platelet-endothelial cell adhesion molecule-1 (PECAM-1) play an important role in glioma invasion and angiogenesis. The aim of this study was to investigate whether specific genetic polymorphisms of ICAM-1 and PECAM-1 could be associated with glioma development and progression. Single-nucleotide polymorphism in codon 469 of ICAM-1 and codon 125 of PECAM-1 were examined in 158 patients with astrocytomas and 162 controls using polymerase chain reaction and restriction enzyme analysis. The distribution of PECAM-1 polymorphic genotypes in astrocytomas did not show any significant difference. However, a specific ICAM-1 genotype (G/G, corresponding to Lys469Glu) exhibited higher frequency in grade II astrocytomas compared to controls, grade III, and grade IV astrocytomas; suggesting that this polymorphism could be involved in the development of grade II astrocytomas.

Demyelinating disease in patients with myasthenia gravis.

Myasthenia gravis (MG) is an autoimmune disease characterized by fluctuating muscle weakness, caused by impaired neuromuscular transmission. Patients with MG can present other autoimmune diseases in association, commonly hypo or hyperthyroidism. The association of MG to demyelinating disease is rare and has been described before. We report on three Brazilian patients with MG that presented distinct demyelinating diseases, two monophasic and one recurrent neuromyelitis optica, several years after the diagnosis of MG, and discuss their clinical courses.

Neuromyelitis optica: brain abnormalities in a Brazilian cohort.

Neuromyelitis optica (NMO) is a demyelinating disease consisting of relapsing-remitting optic neuritis and myelitis with a more severe course than Multiple Sclerosis. Recently, it has been shown that almost 50% of patients with NMO can have brain magnetic resonance imaging (MRI) abnormalities. We report on six Brazilian patients with NMO, fulfilling the 1999 Wingerchuck criteria for this disease, with abnormal brain MRI and discuss their clinical and radiological features.

Prevalence of cardiovascular risk factors among elderly Brazilians over eighty with ischemic stroke.

INTRODUCTION: An ischemic stroke is usually a catastrophic event, mostly in the elderly. Cardiovascular involvement is the leading cause of ischemic stroke in this age population and hence the knowledge about its risk factors is important for the definition of specific policies of prevention. PURPOSE: To evaluate the prevalence of cardiovascular risk factors in patients with age equal to or above 80 in a hospital population with ischemic stroke. METHOD: Retrospective study of consecutive patients diagnosed with ischemic stroke admitted to a tertiary health facility. RESULTS: From September 2004 to March 2006, 215 patients were studied. There was a female preponderance (p<0.01). Among patients over eighty, 72% had hypertension and atrial fibrillation was more common among the oldest old (p<0.01). CONCLUSION: Hypertension and atrial fibrillation should be treated aggressively in the elderly. Anticoagulants should be considered more often in these patients.

Is hospitalization really necessary during the introduction of the ketogenic diet?

The ketogenic diet is traditionally introduced with an initial period of fasting. This study compares the efficacy and tolerability of the introduction of a prediet (2:1 ratio of fat:protein + carbohydrates) before hospitalization with the aim at reducing the time of same and the period of fasting necessary to reach ketosis. For a minimum period of 1 year, adverse effects, metabolic profile, and linear growth were prospectively evaluated in 46 children. Twenty-three children received a prediet for a period of 10 days, and in the other 23 children, the ketogenic diet was introduced by hospitalization regimen after a fasting period. The use of the prediet led to a shorter fasting period of a mean 18.3 hours compared with the group without prediet, in which the fasting period was 41.3 hours (P = .001). At the end, there was no difference in the adverse effects between the groups. In those submitted to the prediet, a better adaptation to the diet and acceptance to the proposal of introducing the ketogenic diet were observed.

Cerebellar degeneration and immune thrombocytopenic purpura associated with human immunodeficiency virus infection (HIV).

Cerebellar disorders associated with HIV infection are usually caused by opportunistic infections, central nervous system lymphoma, and toxic effects of medicines, nutritional and metabolic disorders, and cerebrovascular disease. We present an unusual association of cerebellar degeneration and immune thrombocytopenic purpura in a 28-years-old woman HIV infected. An autoimmune aetiology is likely.

Peroneal nerve palsy due to compartment syndrome after facial plastic surgery.

A 25-year-old white man, right after bilateral rhytidoplasty, presented with agitation, necessitating use of haloperidol. Some hours after, he developed severe pain in his legs and a diagnosis of neuroleptic malignant syndrome (NMS) was considered. Even with treatment for NMS he still complained of pain. A diagnosis of lower limb compartment syndrome (CS) was done only 12 hours after the initial event, being submitted to fasciotomy in both legs, disclosing very pale muscles, due to previous ischemia. This syndrome was not explained only by facial surgery, his position and duration of the procedure. It can be explained by a sequence of events. He had a history of pain in his legs during physical exercises, usually seen in chronic compartment syndrome. He used to take anabolizant and venlafaxine, not previously related, and the agitation could be related to serotoninergic syndrome caused by interaction between venlafaxine and haloperidol. Rhabdomyolysis could lead to oedema and ischemia in both anterior leg compartment. This report highlights the importance of early diagnosis of compartment syndrome, otherwise, even after fasciotomy, a permanent disability secondary to peripheral nerve compression could occur.

Spontaneous artery dissection in a patient with Human Immunodeficiency Virus (HIV) infection.

BACKGROUND: The relationship between human immunodeficiency virus infection and stroke may be attributed in some cases to an underlying vasculopathy such as in spontaneous cervical arteries dissections. CASE REPORT: We report the case of an HIV-infected patient who developed a Wallemberg's syndrome due to a vertebral artery dissection. Screening laboratory exams showed hyperhomocysteinemia and also high C-reactive protein plasma levels. CONCLUSIONS: This is the first case describing the association between arterial dissection (AD) and HIV-infection. We suggest that AD should also be remembered as a possible mechanism of ischemic stroke in HIV-infected patients.

[Intermediary form of Foix-Chavany-Marie / Worster-Drought syndromes associated to involuntary movements: neuropsychological and phonoaudiological features]. / Forma intermediária de síndrome de Foix-Chavany-Marie / síndrome de Worster-Drought associada a movimentos involuntários: aspectos neuropsicológicos e fonoaudiológicos.

The Foix-Chavany-Marie syndrome (FCMS) is characterized by apraxia of speech associated to bilateral central facio-linguo-velo-pharyngeal paralysis, with automatic-voluntary dissociation. In Worster-Drought Syndrome (WDS), dysarthria is remarkable. We report an 18-year-old female, with clinical and radiological findings of intermediary form of FCMS/WDS, and showing involuntary movements, an unusual fact.

Transesophageal echocardiography discloses unexpected cardiac sources of embolus in stroke patients aged more than 45 years.

UNLABELLED: Cerebral embolism from cardiac source is an important cause of stroke, specially in patients younger than 45 years old. OBJECTIVE: To describe the transesophageal echocardiography (TEE) findings in young and non-young stroke patients without any prior evidence of cardiac source for cerebral embolism. METHOD: Transversal study: 523 patients (267 men and 256 women) with ischemic stroke, without any evidence of cardiac abnormality, underwent to TEE. RESULTS: Ten percent were aged 45 years; or less. Left ventricle hypertrophy, left atrial enlargement, spontaneous contrast in aorta, interatrial septum aneurysm, mitral and aortic valve calcification, aortic valve regurgitation, and atherosclerotic plaques in aorta were significantly more frequent in patients aged more than 45 years; 2.8% of non-young patients had thrombus in left heart. CONCLUSION: TEE is widely used to diagnose cardiac source of cerebral embolism in young patients, but it seems to be as useful for older ones, in whom cerebral embolism risk is underestimated; atherogenic and cardioembolic causes may actually coexist, and both should be treated.

Galectin-3 as an immunohistochemical tool to distinguish pilocytic astrocytomas from diffuse astrocytomas, and glioblastomas from anaplastic oligodendrogliomas.

The distinction of astrocytomas and oligodendrogliomas, mainly pilocytic astrocytomas (PILOs) from infiltrating astrocytomas and oligodendrogliomas (ODs), and high-grade oligodendrogliomas from glioblastomas (GBMs), poses a serious clinical problem. There is no useful immunohistochemical (IHC) marker to differentiate these gliomas, and sometimes the differential diagnosis between them is arbitrary. We identified galectin-3 (Gal-3) as a possible tool to differentiate them based on gene expression profiles of GBMs. We confirmed the differential expression in 45 surgical samples (thirteen GBMs; seven PILOs; 5 grade II ODs; 5 anaplastic oligodendrogliomas [AODs], including 2 Oligo-astrocytomas; 8 diffuse astrocytomas [ASTs], and 7 non-neoplastic samples) by quantification of Gal-3 gene expression by real-time quantitative PCR (rt-PCR). Higher expression of Gal-3 was observed in GBMs and PILOs than in OD, AODs and ASTs. The IHC expression of Gal-3 was evaluated in 90 specimens (fifteen PlLOs, fourteen ASTs, 10 anaplastic astrocytomas, fifteen GBMs, eleven ODs, fifteen AODs, and 10 dysembryoplastic neuroepithelial tumors). The mean labeling score for Gal-3 determined according to the percentage of labeled cells in the tumor bulk was significantly different in GBMs versus AODs and in PILOs versus ASTs. Hence, Gal-3 is differentially expressed in central nervous system tumors, making IHC detection of Gal-3 a useful tool in distinguishing between these gliomas.

[Progressive muscular atrophy: clinical and laboratory study in eleven patients]. / Atrofia muscular progressiva: estudo clínico e laboratorial em onze pacientes.

Progressive muscular atrophy (PMA), an infrequent type of motor neuron disease (MND), is a predominantly lower motor neuron degeneration, causing muscle wasting and weakness with loss of weight and fasciculations. The diagnosis is based on rigid criteria, considering clinical aspects and eletroneuromyography findings. Blood tests and radiological investigation are necessary to look for other diagnosis mimicking PMA. We herein present 11 patients with PMA (5.9% of all our MND patients), 9 men and 2 women, which onset of symptoms occurred mainly under de age of 50, with a mean of 45.5 years. Cramp was the most frequent symptom preceding muscular weakness. Muscle pain, fatigue and fasciculations were also cited as starting symptoms. Asymmetric weakness of the arms was the most frequent pattern of onset of the disease. Bulbar muscular weakness developed in all patients during the course of the disease. Predisposing factors and distinctive clinical outcome was not observed in any of the patients. Ophthalmoparesis and sphincter dysfunction were seen in two patients who had a prolonged time in artificial respiratory assistance. Immunosuppressive therapy was ineffective in all patients. Progressive course was seen in all cases and the mean survival time was 44 months.

Progressive encephalomyelitis with rigidity: a paraneoplastic presentation of oat cell carcinoma of the lung. Case report.

Progressive encephalomyelitis with rigidity and myoclonus (PEWR) is a rare neurological disorder, characterised by muscular rigidity, painful spasms, myoclonus, and evidence of brain stem and spinal cord involvement. A 73-year-old white man was admitted with a 10-day history of painful muscle spasms and continuous muscle rigidity on his left lower limb. He had involuntary spasms on his legs and developed encephalopathy with cranial nerves signs and long tract spinal cord symptomatology. Brain CT scan and spinal MRI were normal. The CSF showed lymphocytic pleocytosis and no other abnormalities. EMG showed involuntary muscle activity with 2-6 seconds of duration, interval of 30-50 ms and a frequency of 2/second in the left lower limb. Anti-GAD antibodies were detected in the blood. We detected radiological signs of lung cancer during the follow-up, which proved to be an oat cell carcinoma. The patient died two weeks after the diagnosis of the cancer.

[Normal pattern of intraepidermal nerve fibers in 30 healthy volunteers with PGP 9.5]. / Padronização normal das fibras nervosas intraepidérmicas em 30 voluntários saudáveis com PGP 9,5.

Skin biopsy has become an attractive technique to evaluate the terminal regions of small nerve fibers. There is extensive innervation of the skin by both sensory and autonomic fibers as demonstrated by staining for the pan-axonal marker PGP 9,5. The normal pattern is fundamental before any study, since three different techniques described in the literature with different results. Skin biopsy specimens of 3-mm in diameter were obtained from the distal leg of 30 healthy controls. Median intraepidermal nerve fiber density was 5.3/mm. Skin biopsy may be a useful tool for assessing the topographic extent and degree of nerve fiber damage in sensory neuropathies and may be particularly useful in experimental treatment trials for peripheral neuropathies since, in contrast to standard nerve biopsy, the test can be repeated.

[Ischemic stroke after chemotherapy with cisplatin, etoposide and bleomycin: case report]. / Acidente vascular cerebral isquêmico após quimioterapia com cisplatina, etoposide e bleomicina: relato de caso.

A 20-year-old man with a germ cell tumor who experienced an ischemic stroke as a complication of cisplatin/etoposide/bleomycin based chemotherapy is reported. The previously reported cases are reviewed as well as the different physiopathologic mechanisms associated with vascular toxicity of this regimen.

[The BCTRIMS expanded consensus on treatment of multiple sclerosis: II. The evidences for the use of glucocorticoids and immunomodulatory treatments]. / Consenso expandido do BCTRIMS para o tratamento da esclerose múltipla: II. As evidências para o uso de glicocorticóides e imunomoduladores.

Multiple sclerosis is an inflammatory disease in which immunological mechanisms play an important role in causing demyelinating lesions in the central nervous system. A number of drugs acting in different stages of these mechanisms have been tested for its treatment. This paper analyses the most important clinical trials with glucocorticoids and immunomodulatory treatments, including human immunoglobulin, using the classes of evidences and types of recommendations as have been defined and widely accepted by the international scientific community. It aims to provide sufficient information to support the BCTRIMS Expanded Consensus on Treatment of MS.

[The BCTRIMS Expanded Consensus on treatment of multiple sclerosis: III. Evidence and recommendation-based guidelines]. / Consenso expandido do BCTRIMS para o tratamento da esclerose múltipla: III. Diretrizes baseadas em evidências e recomendações.

There has been unprecedented advances in knowledge of multiple sclerosis (MS) in the last few years. A new set of criteria for its diagnosis and a bunch of recent clinical trials with disease-modifying agents (DMA) have been published. All of that has made it necessary to update and expand the previous consensus for MS treatment as formulated by the Brazilian Committee for Treatment and Research in Multiple Sclerosis (BCTRIMS) two years ago. The BCTRIMS Expanded Consensus emphasizes the need to (1) consider MS treatment on an individual basis; (2) educate patients about the potential benefits and risks of treatment; (3) monitor drugs side effects; (4) have a signed Informed Consent Form; (5) consider the relative cost of the drug. The various clinical possibilities and the indications of the DMA and other immunointerventions are considered according to classes of evidences and types of recommendations. The BCTRIMS Expanded Consensus on Treatment of MS may turn out to be a model to other developing countries.

Amitriptyline and aerobic exercise or amitriptyline alone in the treatment of chronic migraine: a randomized comparative study.

UNLABELLED: To compare the preventive treatment benefits of amitriptyline and aerobic exercise or amitriptyline alone in patients with chronic migraine. METHOD: Sixty patients, both genders, aged between 18 and 50 years, with a diagnosis of chronic migraine, were randomized in groups called amitriptyline and aerobic exercise or amitriptyline alone. The following parameters were evaluated: headache frequency, intensity and duration of headache, days of the analgesic medication use, body mass index (BMI), Beck Depression Inventory (BDI) and Beck Anxiety Inventory (BAI) scores. RESULTS: In the evaluated parameters, was observed decrease in headache frequency (p=0.001), moderate intensity (p=0.048), in headache duration (p=0.001), the body mass index (p=0.001), Beck Depression Inventory (p=0.001) and Beck Anxiety Inventory scores (p=0.001), when groups were compared in the end of third month. CONCLUSION: In this study, the amitriptyline was an effective treatment for chronic migraine, but its efficacy was increased when combined with aerobic exercise.