Involuntary hand levitation associated with parietal damage: another alien hand syndrome.

The alien hand syndrome (AHS) usually consists of an autonomous motor activity perceived as an involuntary and purposeful movement, with a feeling of foreignness of the involved limb, commonly associated with a failure to recognise ownership of the limb in the absence of visual clues. It has been described in association to lesions of the frontal lobes and corpus callosum. However, parietal damage can promote an involuntary, but purposeless, hand levitation, which, sometimes, resembles AHS. In the present study, four patients (cortico-basal ganglionic degeneration - n=2; Alzheimer's disease - n=1 and parietal stroke - n=1) who developed alien hand motor behaviour and whose CT, MRI and/or SPECT have disclosed a major contralateral parietal damage or dysfunction are described. These results reinforce the idea that parietal lobe lesions may also play a role in some patients with purposeless involuntary limb levitation, which is different from the classic forms of AHS.

Prion disease resembling frontotemporal dementia and parkinsonism linked to chromosome 17.

OBJECTIVE: To compare the clinical features of a familial prion disease with those of frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17). BACKGROUND: Prion diseases are not usually considered in the differential diagnosis of FTDP-17, since familial Creutzfeldt-Jakob disease (CJD), the most common inherited prion disease, often manifests as a rapidly progressive dementia. Conversely, FTDP-17 usually has an insidious onset in the fifth decade, with abnormal behavior and parkinsonian features. METHOD: We present the clinical features of 12 patients from a family with CJD associated with a point mutation at codon 183 of the prion protein gene. RESULTS: The mean age at onset was 44.0 +/- 3.7; the duration of the symptoms until death ranged from two to nine years. Behavioral disturbances were the predominant presenting symptoms. Nine patients were first seen by psychiatrists. Eight patients manifested parkinsonian signs. CONCLUSION: These clinical features bear a considerable resemblance to those described in FTDP-17.

Familial spongiform encephalopathy associated with a novel prion protein gene mutation.

Human prion diseases include Creutzfeldt-Jakob disease, Gerstmann-Stráussler-Scheinker disease, fatal familial insomnia, and kuru. Each of these diseases has a specific clinical presentation while spongiform encephalopathy, neuronal loss, and gliosis are their neuropathological hallmarks. We studied a Brazilian family with an autosomal dominant form of dementia. Nine members of the family were affected by a dementia with frontotemporal clinical features, with a mean age at onset of 44.8 +/- 3.8 years and a mean duration of symptoms of 4.2 +/- 2.4 years. Neuropathological examination of 3 patients showed severe spongiform change and neuronal loss in the deep cortical layers and in the putamen, but minimal gliosis in the most severely affected areas. The putamen and cerebellum, but not other areas of the affected brain, displayed prion protein immunoreactivity. A novel prion protein gene mutation causing a nonconservative substitution at codon 183 was identified in 2 neuropathologically confirmed affected individuals (mother and son). The mutation was transmitted in a mendelian fashion to 12 members of the family. Therefore, we identified a novel prion disease variant characterized by an early onset and long duration of the symptoms, severe spongiform change with minimal gliosis, associated with a prion protein gene mutation at codon 183.

[Tolosa-Hunt syndrome. Troubles in diagnosis and pattern of response to prednisone]. / Síndrome de Tolosa-Hunt. Dificuldades no diagnóstico e padrão de resposta à prednisona.

The Tolosa-Hunt syndrome (THS) consists of a painful ophthalmoplegia related to granulomatous inflammatory process in the cavernous sinus. According to recent concepts, the diagnosis is established only when other causes of painful ophthalmoplegia are ruled out. A typical pattern of response to corticosteroids associated with a benign evolution may reinforce this possibility. Tumors such as lymphoma and meningioma and orbital pseudotumors can make difficult the differential diagnosis because they also may respond to steroids. Thus it is always necessary to make an extensive ancillary investigation. We performed a clinical, laboratory and radiologic study of five patients with THS. Prednisone was used in all, with dosages ranging from 40 to 80 mg/day. In four patients there was a dramatic analgesic effect in less than 48 hours. Improvement of the ophthalmoplegia was not so fast but occurred in all with a complete remission in 4 to 45 days.

Brain SPECT in dementia. A clinical-scintigraphic correlation.

The aim of this study was to compare the accuracy of computed tomography (CT) and single photon emission computerized tomography (SPECT) in the diagnosis of dementia. Fifty-two patients with clinical diagnosis of dementia and 11 controls were studied. The scans were interpreted by one experienced neuroradiologist and one nuclear radiologist, both blinded to the clinical data. In the diagnosis of dementia, CT and SPECT showed equal sensitivity (82.7%) and statistically similar specificity (63.8 and 81.8%, respectively). The specificity of SPECT in diagnosing Alzheimer's disease (100%) was statistically superior to CT (69%). However, both methods showed similar sensitivity in detecting Alzheimer's disease. In conclusion, SPECT and CT showed similar accuracy in the diagnosis of dementia. The quite high specificity of SPECT in Alzheimer's disease may be useful for confirming that diagnosis, particularly for patients with presenile onset of the disease.

Evaluation of 100 patients with dementia in São Paulo, Brazil: correlation with socioeconomic status and education.

One hundred consecutive outpatients with dementia were prospectively studied to investigate the diagnoses of dementing diseases and to correlate these diagnoses with socioeconomic status and with education. Alzheimer disease was the most common cause of dementia (54%), followed by vascular dementia (20%). Eight patients presented with potentially reversible causes of dementia. These frequencies are similar to those reported by case register studies from Western Europe and the United States. We did not find differences in the frequencies of the dementing diseases according to socioeconomic status or education. Alzheimer disease was the most common cause of dementia in all socioeconomic classes. Potentially reversible dementias, vascular dementias, and other secondary dementias were not more frequent in the lower socioeconomic strata. There was a trend to a higher frequency of vascular dementia among patients with less education, but this was not statistically significant.

[Neuropsychological tests of simple application for diagnosing dementia]. / Testes neuropsicológicos de aplicação simples para o diagnóstico de demência.

Thirty patients with dementia defined by DSM-III-R criteria (Alzheimer's disease (22), vascular dementia (3), Parkinson's disease, frontal lobe dementia, possible diffuse Lewy body dementia, normal pressure hydrocephalus and uncertain diagnosis), with scores below 24 points in the Mini-Mental Status Examination and more than 4 years of education were submitted to a neuropsychological evaluation. The scores in the neuropsychological tests were compared to those obtained by thirty normal volunteers paired for age, sex and education. Sensitivity, specificity and accuracy of the tests in the distinction of demented and normal volunteers were determined. The accuracies were calculated using ROC curves. Blessed's information-memory-concentration test showed greatest accuracy, followed by copy of simple figures, delayed memory of 10 figures (after 5 minutes), recognition of 10 figures and verbal fluency test (animals). A linear discriminant function, composed by 6 tests: visual perception, incidental memory, delayed memory (after 5 minutes), drawing of a clock, verbal fluency (animals) and calculation tests, was able to discriminate all controls from patients and only one patient was wrongly classified as normal control. These tests were chosen because they can be applied in less than 10 minutes and are very easy to interpret. This discriminant function must be applied in another group of patients and controls in order to demonstrate its value. When associated to the MMSE it may be useful to discriminate patients with dementia from normal people in epidemiological studies.

Functional significance of MRI defined mesial temporal sclerosis in temporal lobe epilepsy.

The functional significance of MRI-defined mesial temporal sclerosis in temporal lobe epilepsy (TLE) is not completely established. In order to study the possible relationship between signals of mesial temporal sclerosis on MRI and interictal SPECT findings we selected 18 patients with complex partial seizures, unilateral temporal EEG focus and normal CT. The EEG focus was defined by the presence of interictal sharp waves and slow background on several scalp EEG obtained during many years of follow up in all patients and by ictal recordings with sphenoidal electrodes in 12 patients. Group I comprised patients (n = 11) in whom MRI showed mesial temporal sclerosis; group II patients (n = 7) had normal MRIs. All patients were submitted to interictal 99m-Tc HMPAO injections with concomitant EEG monitoring. Lateralized hypoperfusion ipsilateral to the EEG was found in 13 patients (72%). In all Group II and in 6 Group I patients a temporal hypoperfusion was found. This SPECT study showed a higher positivity rate in patients with normal MRI than previously reported. On the other hand, in all these group II patients a neocortical origin of epileptic focus was suspected on clinical or electroencephalographic basis. Positive SPECT findings may be at least as prevalent in neocortical as in mesiolimbic epilepsy.

[Kinesigenic paroxysmal choreoathetosis. Report of a case treated with carbamazepine]. / Coreoatetose paroxística cinesiogênica. Relato de um caso tratado com carbamazepina.

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.

Coreoatetose paroxística cinesiogênica: relato de um caso tratado com carbamazepina / Kinesigenic paroxysmal choreoathetosis: report of a case treated with carbamazepina

A coreatetose paroxística (CP) é entidade rara. Até mesmo profissionais que estudam desordens do movimento näo costumam vê-la com freqüência. A ocorrência paroxística de moviemtnos distônicos, coréicos e atetósicos é a apresentaçäo típica da síndrome. O início costuma ser abrupto e os ataques podem durar de alguns segundos até horas. Casos esporádicos e, mais frequentemente,casos familiares têm sido relatados. A abordagem terapêutica com anticonvulsivantes, como a carbamazepina, nem sempre tem sucesso. Com esta droga, porém, geralmente há boa resposta na variante cinesiogênica da CP. É relatado o caso de um paciente jovem do sexo masculino com essa variante da CP. O início da doença se deu na puberdade. O exame neurológico era normal entre os ataques. A investigaçäo laboratorial, EEG, TC de crânio e RNM de segmento cefálico foram normais. Carbamazepina em doses baixas (100 mg/dia) foi eficaz no manejo dos ataques

MRI and brain spect findings in patients with unilateral temporal lobe epilepsy and normal CT scan.

26 patients with temporal lobe epilepsy clinically documented by several abnormal interictal surface EEGs with typical unitemporal epileptiform activity and a normal CT scan were studied. Interictal 99mTC HMPAO brain SPECT and MRI were performed in all subjects. Abnormalities were shown in 61.5% of MRI (n = 16) and 65.4% of SPECT (n = 17). Hippocampal atrophy associated to a high signal on T2-weighted MRI slices suggesting mesial temporal sclerosis was the main finding (n = 12; 75% of abnormal MRI). MRI correlated well to surface EEG in 50% (n = 13). There was also a good correlation between MRI and SPECT in 30.7% (n = 8). SPECT and EEG were in agreement in 57.7% (n = 15). MRI, SPECT and EEG were congruent in 26.9% (n = 7). These results support the usefulness of interictal brain SPECT and MRI in detecting lateralized abnormalities in temporal lobe epilepsy. On the other hand, in two cases, interictal SPECT correlated poorly with surface EEG. This functional method should not be used isolately in the detection of temporal lobe foci. MRI is more useful than CT as a neuroimaging technique in temporal lobe epilepsy. It may detect small structural lesions and mesial temporal lobe sclerosis which are not easily seen with traditional CT scanning.

MRI and brain SPECT findings in patients with unilateral temporal lobe epilepsy and normal CT scan

Foram estudados 26 pacientes com epilepsia do lobo temporal clinicamente documentada por vários EEGs com atividade epileptiforme intercrítica e TC de crânio normal SPECT com TC HMPAO e ressonância magnética (RM) foram realizados em todos os casos 61,5 por cento (n=17) dos SPECTs revelaron algum tipo de anormalidade. Atrofia hipocampal, nas imagens enfatizadas em T1 e presença de hipersinal nas imagens enfatizadas em T2, sugerindo esclerose mesial temporal, foram o principal achado (n=12,75 por cento das RM anormais). RM correlacionou-se ao ECG em 50 por cento (n=13). Concordância entre RM e SPECT ocorreu em 30.7 por cento (n=8) e entre SPECT e EEG em 57.7 por cento (n=15), RM, SPECT e EEG foram congruentes em 26.9 por cento (n=7). Estes resultados refletem o valor do SPECT intercrítico e RM na detecçäo e lateralizaçäo de anormalidades em epilepsia do lobo temporal. Por outro lado, em dois casos, o SPECT correlacionou-se mal com o EEG. Este método funcional näo deve ser utilizado isoladamente na detecçäo de focos temporais. RM é mais útil do que a TC como recurso de neuroimagem na epilepsia do lobo temporal. Ela pode detectar pequenas lesöes estruturais e esclerose mesial temporal, näo facilmente identificáveis pela TC