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OBJECTIVE: To investigate the effects of exercise training (ET) on muscle sympathetic nerve activity (MSNA) and executive performance during Stroop Color Word Test (SCWT) also referred to as mental stress test. METHODS: Forty-four individuals with obstructive sleep apnea (OSA) and no significant co-morbidities were randomized into 2 groups; 15 individuals completed the control period, and 18 individuals completed the ET. Mini-mental state of examination and intelligence quotient were also assessed. MSNA assessed by microneurography, heart rate by electrocardiography, blood pressure (automated oscillometric device) were measured at baseline and during 3 min of the SCWT. Peak oxygen uptake (VO2 peak) was evaluated using cardiopulmonary exercise testing. Executive performance was assessed by the total correct responses during 3 min of the SCWT. ET consisted of 3 weekly sessions of aerobic exercise, resistance exercises, and flexibility (72 sessions, achieved in 40±3.9 weeks). RESULTS: Baseline parameters were similar between groups. Heart rate, blood pressure, and MSNA responses during SCWT were similar between groups (p>0.05). The comparisons between groups showed that the changes in VO2 (4.7±0.8 vs -1.2±0.4) and apnea-hypopnea index (-7.4±3.1 vs 5.5±3.3) in the exercise-trained group were significantly greater than those observed in the control group respectively (p0.05). CONCLUSIONS: ET improves sympathetic response and executive performance during SCWT, suggesting a prominent positive impact of ET on prefrontal functioning in individuals with OSA. ClinicalTrials.gov: NCT002289625.

INTRODUCTION/PURPOSE We demonstrated that patients with obstructive sleep apnea (OSA) have reduced muscle metaboreflex control of muscle sympathetic nerve activity (MSNA). In addition, exercise training increased muscle metaboreflex control in heart failure patients. OBJECTIVE We tested the hypothesis that exercise training would increase muscle metaboreflex control of MSNA in patients with OSA. METHODS Forty-one patients with OSA were randomized into the following two groups: 1) nontrained (OSANT, n = 21) and 2) trained (OSAT, n = 20). Muscle sympathetic nerve activity was assessed by microneurography technique, muscle blood flow (FBF) by venous occlusion plethysmography, heart rate by electrocardiography, and blood pressure with an automated oscillometric device. All physiological variables were simultaneously assessed at rest, during isometric handgrip exercise at 30% of the maximal voluntary contraction, and during posthandgrip muscle ischemia (PHMI). Muscle metaboreflex sensitivity was calculated as the difference in MSNA between PHMI and the rest period. Patients in the OSAT group underwent 72 sessions of moderate exercise training, whereas patients in the OSANT group were clinical follow-up for 6 months. RESULTS The OSANT and OSAT groups were similar in anthropometric, neurovascular, hemodynamic and sleep parameters. Exercise training reduced the baseline MSNA (34 ± 2 bursts per minute vs 25 ± 2 bursts per minute; P < 0.05) and increased the baseline FBF (2.1 ± 0.2 mL·min per 100 g vs 2.4 ± 0.2 mL·min per 100 g; P < 0.05). Exercise training significantly reduced MSNA levels and increased FBF responses during isometric exercise. Exercise training significantly increased MSNA responses during PHMI (Δ6.5 ± 1 vs -1.7 ± 1 bursts per minute, P < 0.01). No significant changes in FBF or hemodynamic parameters in OSANT patients were found. CONCLUSIONS Exercise training increases muscle metaboreflex sensitivity in patients with OSA. This autonomic change associated with increased muscle blood flow may contribute to the increase in exercise performance in this set of patients.

We evaluated the effects of exercise training (ET) on the profile of mood states (POMS), heart rate variability, spontaneous baroreflex sensitivity (BRS), and sleep disturbance severity in patients with obstructive sleep apnea (OSA). Forty-four patients were randomized into 2 groups, 18 patients completed the untrained period and 16 patients completed the exercise training (ET). Beat-to-beat heart rate and blood pressure were simultaneously collected for 5 min at rest. Heart rate variability (RR interval) was assessed in time domain and frequency domain (FFT spectral analysis). BRS was analyzed with the sequence method, and POMS was analyzed across the 6 categories (tension, depression, hostility, vigor, fatigue, and confusion). ET consisted of 3 weekly sessions of aerobic exercise, local strengthening, and stretching exercises (72 sessions, achieved in 40±3.9 weeks). Baseline parameters were similar between groups. The comparisons between groups showed that the changes in apnea-hypopnea index, arousal index, and O2 desaturation in the exercise group were significantly greater than in the untrained group (P

OBJECTIVE: To compare subjective sleep evaluation obtained using four questionnaires with polysomnography results for individuals with and without obstructive sleep apnea. METHODS: Observational and analytical study in which individuals underwent polysomnography were studied retrospectively to investigate sleep disorders. We compared subjective data from a research database used to predict obstructive sleep apnea based on the STOP-BANG questionnaire, evaluation of excessive daytime sleepiness (Epworth Sleepiness Scale), sleep quality questionnaire (Mini Sleep Questionnaire) and Post-Sleep Data Collection Instrument with the self-reported total sleep time and sleep-onset latency for subjects with and without obstructive sleep apnea. RESULTS: The STOP-BANG questionnaire was a good predictor for the diagnosis of obstructive sleep apnea. However, the other instruments did not show a significant difference between healthy and sick individuals. Patients’ perceptions of their sleep onset time were significantly lower than the polysomnographic data, but this difference remained for both subjects with and without obstructive sleep apnea. No difference was found between the subjective duration of sleep and the total sleep time assessed by polysomnography in either the healthy subjects or the patients. CONCLUSION: Except for the STOP-BANG questionnaire, subjective evaluation of sleepiness, sleep quality, perception of onset, and total sleep time are not important parameters for the diagnosis of obstructive sleep apnea, which reinforces the need for an active search for better management of these patients.

STUDY OBJECTIVES: To compare vascular function of sedentary (SED) versus physically active (ACTIVE) patients with obstructive sleep apnea (OSA) during rest and mental stress. METHODS: Patients with untreated OSA without other comorbidities were classified into SED and ACTIVE groups according to the International Physical Activity Questionnaire. Blood pressure (BP), heart rate (HR), forearm blood flow (FBF) (plethysmography), and forearm vascular conductance (FVC = FBF / mean BP × 100) were continuously measured at rest (4 minutes) followed by 3 minutes of mental stress (Stroop Color Word Test). RESULTS: We studied 40 patients with OSA (men = 24, age = 50 ± 1 years, body mass index = 29.3 ± 0.5 kg/m(2), apnea-hypopnea index = 39.3 ± 4 events/h). Leisure time physical activity domain in SED (n = 19) and ACTIVE (n = 21) was 20 ± 8 and 239 ± 32 min/wk, (P < .05). Baseline profile and perception of stress were similar in both groups. Baseline FBF (3.5 ± 0.2 mL/min/100 mL versus 2.4 ± 0.14 mL/min/100 mL) and FVC (3.5 ± 0.2 U versus 2.3 ± 0.1 U) were significantly lower in the SED group than in the ACTIVE group, respectively (P < .05). HR and BP increased similarly during mental stress test in both groups. Changes during mental stress in FBF (0.65 ± 0.12 versus 1.04 ± 0.12) and FVC (0.58 ± 0.11 versus 0.99 ± 0.11) were significantly lower in the SED group than in the ACTIVE group, respectively (P < .05). There was a significant correlation between leisure time physical activity and FBF (r = .57, P < .05) and FVC (r = .48, P < .05) during mental stress. CONCLUSIONS: The vascular response among patients with OSA is influenced by the level of physical activity. A high level of physical activity may partially protect against the cardiovascular dysfunction associated with OSA. CITATION: Ferreira-Silva R, Goya TT, Barbosa ER, Durante BG, Araujo CE, Lorenzi-Filho G, Ueno-Pardi LM. Vascular response during mental stress in sedentary and physically active patients with obstructive sleep apnea. J Clin Sleep Med. 2018;14(9):1463–1470.

Objectives To evaluate the cognitive performance of a group of patients with Wilson's disease (WD) and to correlate the cognitive findings with changes in magnetic resonance imaging (MRI). Methods All patients with WD consecutively attended in a Movement Disorders Clinic between September 2006 and October 2007 were invited to participate in the study, together with a group of matched healthy controls. Patients and controls were submitted to comprehensive neuropsychological assessment. MRI was performed in all patients, and abnormalities (high-intensity signal, low-intensity signal and atrophy) were semi-quantitatively rated. Performance of patients and controls in each cognitive test was compared, and correlations between cognitive scores and MRI changes were investigated within the patients' group. Results Twenty patients with WD (11 men) and 20 controls (nine men) were evaluated. Mean age in the WD and control groups was 30.05 ± 7.25 and 32.15 ± 5.37 years, respectively. Mean schooling years were 11.15 ± 3.73 among WD cases and 10.08 ± 2.62 among controls. Patients with WD performed significantly worse than controls in the Mini-Mental State Examination, Dementia Rating Scale, phonemic verbal fluency (FAS), verb generation, digit span forward, Stroop test, Frontal Assessment Battery and in the Brief Cognitive Screening Battery. A significant correlation emerged between global cognitive impairment and MRI scale (r = 0.535), being higher for high-intensity signal plus atrophy (r = 0.718). Conclusion Patients with WD presented cognitive impairment, especially in executive functions, with good correlation between cognitive abnormalities and MRI changes.

The case of a 10-year-old boy with a mild abdominal form of hepatolenticular degeneration, showing clinical, laboratory and histological manifestations of heart involvement is reported. The microscopical examination of myocardial fragments collected by intracavitary puncture biopsy, using hematoxylin-eosine and the histochemical method with rubeanic acid, showed a medium degree of myocardial damage and the presence of copper deposition in the tissue. Copper concentration on a myocardial biopsy fragment was almost 10 times the normal heart content. Comments are made on the relationship of the clinical, laboratory and pathological findings with the degree of copper storage on the myocardium.

STUDY OBJECTIVES To investigate muscle sympathetic nerve activity (MSNA) response and executive performance during mental stress in obstructive sleep apnea (OSA). METHODS Individuals with no other comorbidities (age = 52 ± 1 y, body mass index = 29 ± 0.4, kg/m2) were divided into two groups: (1) control (n = 15) and (2) untreated OSA (n = 20) defined by polysomnography. Mini-Mental State of Examination (MMSE) and Inteligence quocient (IQ) were assessed. Heart rate (HR), blood pressure (BP), and MSNA (microneurography) were measured at baseline and during 3 min of the Stroop Color Word Test (SCWT). Sustained attention and inhibitory control were assessed by the number of correct answers and errors during SCWT. RESULTS Control and OSA groups (apnea-hypopnea index, AHI = 8 ± 1 and 47 ± 1 events/h, respectively) were similar in age, MMSE, and IQ. Baseline HR and BP were similar and increased similarly during SCWT in control and OSA groups. In contrast, baseline MSNA was higher in OSA compared to controls. Moreover, MSNA significantly increased in the third minute of SCWT in OSA, but remained unchanged in controls (P < 0.05). The number of correct answers was lower and the number of errors was significantly higher during the second and third minutes of SCWT in the OSA group (P < 0.05). There was a significant correlation (P < 0.01) between the number of errors in the third minute of SCWT with AHI (r = 0.59), arousal index (r = 0.55), and minimum O2 saturation (r = -0.57). CONCLUSIONS As compared to controls, MSNA is increased in patients with OSA at rest, and further significant MSNA increments and worse executive performance are seen during mental stress. CLINICAL TRIAL REGISTRATION URL: http://www.clinicaltrials.gov, registration number: NCT002289625.

The fragile X–associated tremor/ataxia syndrome (FXTAS) is a progressive neurologic disorder that may affect carriers of premutations of the FMR1 gene (55 to 200 CGG repeats), mainly men older than 50 years of age. These individuals do not have the mental retardation syndrome, which is caused by the FMR1 gene full mutation (>200 CGG repeats). The major FXTAS features include progressive intention tremor and cerebellar ataxia, often accompanied by progressive cognitive and behavioral disturbances, such as memory loss, anxiety, deficits of executive functions, and reclusive or irritable behavior, with a gradual appearance of dementia in some individuals; parkinsonism, peripheral neuropathy, lower-limb proximal muscle weakness, and autonomic dysfunction may be present.1 Severe dementia has been seen in a limited number of patients.2 Neuropsychological assessments in 29 FXTAS patients revealed that 21% had Full Scale IQs

Cases of copper deficiency myeloneuropathy (CDM) have been increasingly reported but hypocupremia remains to be an underrecognized cause of myelopathy.1 As zinc reduces copper gastrointestinal absorption, excess zinc ingestion is an important cause of hypocupremia.2 Wilson disease (WD) is a disorder of copper metabolism characterized by impaired excretion of this metal, resulting in its accumulation in many organs, such as liver, brain, and cornea. Treatment options include penicillamine, trientine, and zinc. We report the case of a patient with WD treated with zinc who developed a myeloneuropathy in the setting of copper deficiency. ### Case report. A previously healthy woman developed depression, postural tremor, and dysarthria at the age of 29 years. Based on the presence of Kayser-Fleischer rings and a low ceruloplasmin level (4 mg/dL, normal range 20–60), a diagnosis of WD was made. She received penicillamine for 1 year with resolution of symptoms and signs. Due to adverse event, this medication was switched to …

Abdominal cocoon is a rare cause of intestinal obstruction in adults. Diagnosis is usually established at laparotomy in patients with recurrent attacks of non-strangulating small bowel obstruction. A 40-year-old infertile Brazilian woman with intestinal obstruction and massive haemoserous ascites, due to coexistent ovarian endometriosis and abdominal cocoon, is reported. Abdominal pain, nausea, vomiting and a palpable mass, in addition to imaging of small bowel obstruction and thickened peritoneum, raised diagnostic suspicion. Higher awareness allows for early diagnoses and yields better results during management.

Gilles de la Tourette's syndrome (GTS) is a neuropsychiatric disorder with a childhood onset and is characterized by motor and vocal tics. Fifty-eight patients with GTS were evaluated during a period of three years. Thirty-six patients were male and twenty two female, with an age range of 7 to 51 years (mean 20.33 years). The male to female ratio was 1.6:1. The age of onset ranged from 3 to 15 years (mean 7.81 years). Seventy nine percent of the patients presented motor tics as the initial symptom of the disease. In terms of complex tics, coprolalia was present in 27.6% of the patients; copropraxia in 20.1%; palilalia in 20.1%; ecolalia in 27.6%; and ecopraxia in 27,6%. Associated manifestations, such as attention deficit, hyperactivity disorder and obsessive-compulsive disorder were present in 25.8% and 39.6%, respectively. Sensory phenomena were present in 54.8% of the patients.

Thirty men having Parkinsons disease (PD) and 30 controls were studied prospectively by the use of the International Index of Erectile Function (IIEF) to assess erectile dysfunction (ED). Of the patients with PD (mean age of 59 years), 46.66% referred to the practice of sexual activity. All of the parkinsonians were using antiparkinsonian medication. In the control group (mean age of 63 years), 76.66% referred to the practice of sexual activity, 46.60% to arterial hypertension and 6.66% to diabetes mellitus. The median score for the PD group according to the IIEF was 34, and that for the controls 50. The main differences between the two groups were in the erectile function, orgasmic function and satisfaction with the sexual relationship. The IIEF is a multidimensional scale widely accepted to assess the ED. The data obtained suggest that ED is more frequent among parkinsonians and points out to the role of DP in the genesis of ED.

The authors report the clinical and angiographical findings of two cases of familial hemifacial spasm. This is the fifth description in the literature and presents mother and daughter at the ages of 76 and 51 respectively, in whom the left side was affected. They underwent exams of angioresonance that showed dolichobasilar with left side origin in both patients. The exams also demonstrated postero-inferior cerebellar artery very developed and irregularities in the walls of the vertebral and basilar arteries suggestive of arteriosclerosis in the mother and slightly elongated intracranial vessels in the daughter. Literature review and etiology data of the hemifacial spasm are focused.

Blepharospasm is form of focal dystonia characterized by involuntary and repetitive contractions involving the orbicular oculi muscle. Fourteen patients with blepharospasm were submitted to botulinum toxin type A injections. Of these 14 cases, 6 were male and 8 female. The mean age was 58 years (range: 33 to 76 years) with illness duration ranging from 1 to 25 years (average: 7.3 years). All patients have been treated with conventional therapies with poor results, but presented a good response to botulinum toxin type A. The average latent period was 3 days (range: 0 to 10); maximum effect of treatment was observed after 16 days. The mean duration of maximum response was 90 days. The main side effects of botulinum toxin injections were ptosis and lagophtalmos.

Nine patients with "idiopathic" hemifacial spasm were evaluated with cranial magnetic resonance imaging and angiography. Alterations of the posterior fossa vasculature, possibly related to the facial nerve irritation, were found in 8 patients (88%). Magnetic resonance angiography is a noninvasive procedure and appears to be a sensitive method to evaluate the hemifacial spasm etiology.

We report the case of a 56-years-old woman patient, born to unrelated parents, who since 26-years-old gradually developed bradykinesia, rigidity, tremor of both hands, and speech and gait difficulties. Her past history was unremarkable. There was no family history of neurologic disease. She was admitted to our Hospital at age 39 and at that time she presented a full parkinsonian syndrome. The following tests were normal or negative: routine blood studies, serum copper, ceruloplasmin and cerebrospinal fluid examination. There was not Kayser-Fleicher ring, and fundoscopic examination revealed no abnormalities. Levodopa was introduced and response was good for more than ten years, despite early-onset of dyskinesias (three months after the introduction of the drug). After 30 years under levodopa she still presents a moderate response but with severe fluctuations of the motor performance. Except for slowness of cognition she developed no other neuropsychological impairments, and a recent neurological examination disclosed no abnormalities besides a parkinsonian syndrome. One year ago, a magnetic resonance imaging (MRI) was performed and showed bilateral, symmetrical lesions with "eye-of-the-tiger" pattern. This case illustrates the pathological heterogeneity of early-onset parkinsonism and suggests the possibility to find the typical MRI lesions seen in Hallervorden-Spatz disease in other degenerative affections involving globus pallidus.

Paroxysmal choreoathetosis (PC) is a rare entity, and professionals who study movement disorders do not find it easily. Paroxysmal occurrence of dystonic, choreic, athetosic movements is the typical feature of this syndrome. The onset is always subtle and the attacks can last from few seconds to hours. Sporadic cases and more common familial cases have been reported. The therapeutic approach with anticonvulsant drugs like carbamazepine is not always successful. However, there is a good response to this drug in the kinesigenic form of PC. The case of a 21 years old male patient is reported here. The onset occurred during puberty, at 14 years old. Neurologic examination was normal between attacks. Subtle and brief choreic, athetosic and dystonic limb and legs movements precipitated by sudden quick and unexpected passive movements, as by startle, were observed during the attacks. There was no familial history. Routine laboratorial investigation, EEG, CT scan and MRI did not show significant changes. Carbamazepine in low dosages (100 mg/day) brought a complete control of the attacks.

The occurrence of myoclonic and dystonic movements as an isolated expression of a neurologic condition of hereditary pattern have been scarcely described in literature. For this entity some authors proposed the denomination "hereditary myoclonic dystonia" while others prefer the use of the expression "hereditary essential myoclonus". We present a family in which this unusual association of abnormal movements affected several members in three generations. The propositus patient is a 14-year-old girl who have noticed the dystonic movements by 7 years of age and the myoclonic ones by 13 years of age, with a slow progression. There was no reference about the effect of alcohol (abstemious patient). There was a family history of similar cases. The supplementary investigation (seric dosage of cupper, ceruloplasmine, T3, T4, TSH; acanthocytes search; CSF examination; CT scan and MRI of the head) did not show any abnormality. Clonazepam was the only medication that lead to a clinical improvement, reducing both movements.

The purpose of this study was to evaluate MRI findings in a group of patients with Wilson's disease, trying to establish possible correlations between clinical and image data. Sixteen patients (8 males and 8 females), with ages ranging from 11 to 50 years, and duration of illness ranging from 5 months to 32 years, were submitted to MRI in a 1.5T System. Four patients were asymptomatic, 4 had mild neurological findings, 2 were moderately affected and the remaining 6 had a severe form of the disease. All patients were receiving D-penicillamine by the time of the study. The most symptomatic patients presented five or more sites of abnormalities on MRI. The putamen was affected in all symptomatic individuals and one asymptomatic and 11 of them presented dystonia on neurological examination. A striking feature was the peripheral localization of putaminal hyperintense lesions on T2 weighted images. In eight cases, striatum or "substantia nigra" lesions explained parkinsonism observed on neurological examination. MRI seems to be an efficient method to study neurological involvement of Wilson's disease allowing some interesting anatomo-clinical correlations.

Ethylene oxide is a gas widely used in the production of industrial chemicals. It is also used to sterilize heat-sensitive medical supplies. Previous reports of acute and chronic exposure have described neurotoxic effects like peripheral neuropathy and cognitive impairment. We describe a pure parkinsonian syndrome following acute ethylene oxide intoxication. A 39-years-old male was referred to our Movement Disorders Clinic for evaluation of a parkinsonian syndrome. He was acutely exposed to ethylene oxide four years before and remained comatose for three days, and gradually regained consciousness. At that time he showed a global parkinsonian syndrome including bradykinesia, rigidity and rest tremor, with a severe motor disability; no other neurological disorders were found. The symptomatology was partially controlled with biperidene and levodopa plus carbidopa. Two years later he developed L-dopa induced dyskinesias. Four years after the intoxication he was evaluated at our clinic. General examination showed no abnormalities. Neurologic examination revealed a normal mental status. Motor evaluation disclosed moderate bradykinesia, rigidity and rest tremor, shuffling gait, poor facial mimic, stooped posture, and his speech was low and monotonous; deep tendon reflexes were brisk. The Hoehn-Yahr disability score was degree IV. Routine laboratory and radiological exams showed results within normal limits. The CSF examination was normal. Brain computed tomography and magnetic ressonance were normal. A trial with bromocriptine and levodopa plus carbidopa did not improve dyskinesia, and he was put on a schedule including amantadine and biperidene with improvement to grade III in Hoehn-Yahr scale. In the present case there was a clear relation between the acute exogenous intoxication and irreversible parkinsonism.(ABSTRACT TRUNCATED AT 250 WORDS)

Three patients with symptoms and signs of hepatolenticular degeneration (HLD) who developed serious renal side effects of D-penicillamine (DP) had their therapeutic schedule changed to zinc. Patient 1, a 55 year-old man had been well until 12 years old, when skeletal changes (osteomalacia) due to tubular renal disturbance began. His diagnosis of HLD had first been established at age of 32 when he presented with "wing-beat" tremor. He was then begun on DP and his neurological symptoms resolved within one year of initiating therapy but skeletal abnormalities remained unchanged as a sequel. During the next 22 years the patient was continued on DP therapy but with poor compliance. Then the reappearance of his neurological manifestations occurred several times. By the age of 53, after one year without therapy, his neurological status has worse. DP was reinstituted but some weeks later his renal laboratory parameters became severely affected. DP was discontinued and zinc sulfate (220 mg three times daily) was introduced. On this therapeutic regimen his renal laboratory parameters returned to previous level after one month. Within one year on this therapeutic regimen neurological manifestations were resolved. After 31 months on zinc treatment he remains neurologically asymptomatic and his renal function is satisfactory. Patient 2, a 41 year old woman had been her diagnosis of HLD at age of 20, when following the diagnosis of the disease in her old brother, she was found to have the laboratory features of HLD and bilateral Kayser-Fleischer rings. DP treatment was recommended at that time but she quit the follow-up. When she was 23, an esophageal variceal bleeding occurred.(ABSTRACT TRUNCATED AT 250 WORDS)

A series of 76 patients with hepatolenticular degeneration (HLD) followed up at the Hospital of the University of São Paulo Medical School between 1963 and 1988 have been studied focusing the evolution under treatment of neurological features. The assessment of neurological symptoms included 12 specific items, and it was made by a scoring system ranging from 0 to 3 (absent, mild, moderate and severe). Global score varied between 0 to 36. A functional disability scale (0, normal; 1, mild; 2, moderate; 3, severe) was also adopted. All patients received D-penicillamine but three of them developed serious renal toxic side-effects, and this drug was replaced by zinc (sulphate or acetate). Fifty-nine patients (77.6%) improved, 8 (10.6%) remained unchanged, and 9 (11.8%) got worse. The main features related to bad results were poor compliance, predominance of dystonic symptoms, and short time treatment (death due hepatic complications). Eight patients (10.5%) developed transient worsening of neurological symptoms during the first weeks of treatment. Three patients who have D-penicillamine replaced by zinc salts presented satisfactory evolution. From them, only one had neurological symptoms. Death due to infectious complications related to severe motor disability occurred in three patients, representing only 10.7% of fatal evolution.

We are presenting an uncommon case of cerebral tumor whose major manifestation was parkinsonism. The patient was a 50-year-old woman presented with a 5-month history of tremor of the right hand, particularly at rest, and headache. On neurological examination of March, 1987 there were: slight right-sided hemiparesis with symmetrical hyperreflexia; discrete bradykinesia in combination with cogwheel rigidity also on the right-side; resting tremor of the right hand; and bilateral papilledema. The neuropsychological examination disclosed: nominative aphasia, impaired recent memory and right-left disorientation. The computed tomography showed a large, left frontotemporal tumor. Angiograms of the left internal and external carotid arteries revealed a tumor blush in the left frontotemporal region supplied by a enlarged middle meningeal artery. An electromyogram revealed a 4-6 HZ tremor on right hand. A course of treatment with dexamethasone 16 mg/day and levodopa plus benzerazine (500 mg/day) was unsuccessful. A left fronto-temporo-parietal craniotomy was performed and an attached sphenoid wing tumor was macroscopically completely removed. Microscopy indicated that the tumor was a meningioma. Postoperatively, the patient made an uneventful recovery. After two weeks, her right-sided palsy and parkinsonism had disappeared, and neuropsychological deficits improved. Two months later there was no abnormalities on neurological and neuropsychological examination. It was concluded that the parkinsonism was caused by mechanical pressure on the basal ganglia.

Movement disorders, mostly dystonia, sometimes occur in heterozygotes for Wilson's disease (WD). A patient with metabolic abnormalities suggestive of heterozygote for WD and dystonia is reported. His niece showed the typical neurological and metabolic abnormalities of WD. This rare coincidence and the etiopathogenic mechanisms involved are discussed.

Two cases (siblings) with computed tomography showing slow attenuation of basal ganglia are reported. In case 1 the abnormality is larger, bilateral and the most important neurological features are: dystonic postures mainly in lower extremities and very active patellar reflexes with sustained knee clonus on both sides. In case 2 the tomographic examination disclosed a similar, but more discrete lesion only on the left side; the neurological examination is normal despite a history of frequent falls. The authors discuss the differential diagnosis from a clinical and tomographic approach.

Sixty-four cases of idiopathic Parkinson's disease were studied focusing the neuropsychological performance. To all subjects a brief mental status questionnaire was administered (30 items). Cases with a performance below normal and meeting the dementia criteria of the Diagnosis and Statistical Manual of Mental Disorders, third edition (DSM III), were considered demented. This evaluation showed that 12 of the 64 patients had dementia, a prevalence rate of 18.7%. Patients that had neuropsychological performance below normal showed more severe bradykinesia than normals. Short term memory, abstract thinking, visual gnosia, calculations, dynamic motor function of hands, constructional ability and recent memory were the most affected psychological functions. The significance of the mentioned findings is discussed and the literature reviewed.

The ultrasonographic study of 33 patients with hepatolenticular degeneration showed the following main changes: disorders of the hepatic echotexture (29 cases), changes of the splenic dimensions (21), liver shrinkage (10), cholelithiasis (8), hepatomegaly and ascites (1). The disorders of liver echotexture exhibited different patterns, from slight to severe changes of the hepatic echogenicity, associated with anatomic distortions of the liver, such as alterations of outline and decrease of dimensions. Liver shrinkage was always accompanied by splenomegaly. The scarcity of hepatomegaly may be explained by the fact that the ultrasonography was performed after the onset of treatment with penicillamine, or by other factors still unknown, copper perhaps possessing a stronger fibrogenetic action than other hepatotoxic agents. Cholelithiasis was very frequent in females (6 of 13 patients), its incidence tending to increase with age. Regarding males there was no increase when the incidence was compared to the general population. The two sole males were young, an unusual finding in normal men.

Ninety-six joints of 25 patients with hepatolenticular degeneration have been studied by means of scintigraphs with technetium (99mTc), a method which can disclose early synovial inflammation and postinflammatory articular degeneration. Signs of synovitis were found in 22 joints of 10 patients (40%) and degenerative changes were present in 15 joints of eight patients (32%). Eleven patients complained of joint pains; in four of them they were the presenting symptom. the radiological study showed osteoporosis in 22 patients (88%); flexion deformity was found in two cases, anomalous osteophytes in two, and signs of growth arrest, features of rheumatoid arthritis and aseptic necrosis in one case each. the pathogenesis of osteoarticular changes in Wilson's disease is discussed.

Ninety-five cases of hepatolenticular degeneration have been studied, focusing particularly the clinical and laboratory characterization of the disease. On the clinical viewpoint the variability of the starting symptoms and the frequency of the Kayser-Fleischer rings were analyzed. As regards the laboratory findings the ceruloplasmin, blood and urinary copper, and aminoaciduria levels have been evaluated, as well as the radiological and scintillographic study of joints and bones, cranial computerized tomography and liver biopsy. In 54.4% of the cases the opening clinical picture was neurological, in 31.1% hepatic, in 14.4% psychiatric, in 7.8% osteoarticular, in 2.2% ophtalmologic (Kayser-Fleischer rings), in 1.1% hematologic (hemolytic anemia), and in 1.1% cardiac. Kayser-Fleischer rings were present in 84 of the 92 cases in which they have been searched for (91.3%). Concerning the laboratory findings, hypoceruloplasminemia was found in 98.8% of the cases in which it was investigated, hyperaminoaciduria in 94.7%, hypocupremia in 87.0%, increased cupruresis in 78.2%, osteoporosis in 79.4%, scintillographic changes of the joints in 67.6%; the CT-scan, performed in 11 cases, showed low attenuation areas in the basal ganglia of 2 patients. The significance of the mentioned laboratory findings and the presence of the Kayser-Fleischer rings for the diagnosis of Wilson's disease is discussed.

A case of primary amebic meningoencephalomyelitis due to Naegleria sp observed in a 14 years old boy is reported. Symptoms due to myelitis at the dorsal level assumed ascending character during the first days of disease. Manifestations due to encephalic involvemente were discrete. Cerebrospinal fluid changes were marked by pleocytosis, and the eosinophil cells participation in the cytomorphological profile was persitently high. Amphotericin-B was used intravenously (25 mgm/day) until 1,500 mgm of total dosis. Remission of encephalitis manifestations was prompt, as well as of meningeal signs. Cerebrospinal fluid changes disappeared progressively. Sensitive-motor changes due to spinal cord involvement persisted as permanent sequelae. Naegleria sp., was isolated from the cerebrospinal fluid in the acute stage of the disease, as well as, from the water of a lagoon where the patient used to swim.

Two cases (siblings) of benign familial chorea are reported. The family's pedigree shows an autosomic dominant form of inheritance with incomplete penetrance. The differential diagnosis is discussed as well a brief literature revision is made.

Ten cases of juvenile parkinsonism are reported. A brief review of the literature is made and the nosologic boundaries of the disease are discussed. Comments are made on some clinical, genetic and therapeutic features of the illness in this series and according to the literature data.

The neuropsychiatric aspects and both hereditary and therapeutic study from 16 patients with Huntington's chorea are presented. The differential diagnosis from a clinical approach has been emphasized. The results of this research and those of the literature were compared.