Genetic analysis of LRRK2 functional domains in Brazilian patients with Parkinson's disease.

BACKGROUND AND PURPOSE: Mutations in the leucine-rich repeat kinase 2 gene (LRRK2) have been associated with Parkinson's disease (PD), and the majority of the pathogenic variants are located in the ROC and MAPKKK domains. METHODS: Exons 29-31 and 38-44 (ROC and MAPKKK domains) were sequenced in 204 patients with PD, mostly Brazilian. RESULTS: We identified four polymorphisms, a novel silent variant p.R1398R and four substitutions: p.T1410M, p.G2019S, p.Y2189C and the novel variant p.C2139S. CONCLUSIONS: The most prevalent mutation was the p.G2019S (2.4%). We consider that the p.T1410M and the p.Y2189C variants are probably polymorphisms and that the p.C2139S mutation is potentially pathogenic.

[Tremor: adaptation of a clinical scale]. / Tremor: adaptação de uma escala clínica.

The Fahn, Tolosa e Marín's clinical rating scale for tremor was adapted to our country for evaluation of tremor. This scale was applied to 123 patients with this movement disorder, selected from the Ambulatory of General Medicine at Hospital Universitário Pedro Ernesto da Universidade do Estado do Rio de Janeiro. These patients had been chosen no matter the etiology of their condition or their age. Although some variants may had influenced the scores of this particular scale, they did not seem to change its standardization and applicability.

Primary progressive freezing gait. Case report.

The clinical features of the primary progressive freezing gait, a rare and distinct neurological entity, have been described in some articles. This paper describes this gait disorder affecting one patient, whose condition's long course provoked no postural instability. As stated in the literature, the pathophysiology of the primary progressive freezing gait still remains unclear, although the lack of response to levodopa therapy suggests a possible involvement of nondopaminergic pathways. Alteration in the visual perception may be a potential cause for the condition.

[Writing tremor: report of a case]. / Tremor da escrita. Relato de caso.

Primary writing tremor is induced by a specific motor activity, generally the handwriting. The case is analyzed under clinic and therapeutic points of view. The patient had a tremor elicited by handwriting without any other concurrent neurologic alteration. He neither presented familiar antecedents nor metabolic, endocrine, iatrogenic, toxic and traumatic ones. As to the therapeutic approach, the tremor did not respond satisfactorily neither to propranolol nor to primidone. But with anticholinergics improvement of the tremor was verified.

[Essential tremor. Clinical observations]. / Tremor essencial. Observações clínicas.

The authors have studied 53 patients with essential tremor, focusing its clinical and epidemiological aspects. There were familial history in 37.70% of all cases, prevailing in females (56.60%) and white people (69.80%); nevertheless this difference can not be assured from the statistical point of view due to lack of population data. We agreed that the main incidence of this syndrome occurred beyond the 5th decade, specially during the 6th and 7th decades. Topographically, we could observe that the hand tremor predominanted, with an incidence of 96.20% of the total number of cases, followed by head tremor (28.30%), voice tremor (16.99%), leg tremor (11.30%), tongue tremor (3.78%) and trunk tremor (1.88%). These focal tremors were seldom observed alone and we noted frequent association with hand tremor.

[Intracranial saccular aneurysm: report of 3 cases in a same family]. / Aneurisma sacular intracraniano. Apresentação de trés casos em uma mesma família.

The authors report the cases of three patients from the same family, all with intracranial saccular aneurysm (left carotid artery, anterior communicating artery, and middle cerebral artery). All three patients were operated on with good recovery and no complications. The authors call attention for some etiopathogenic aspects of familial saccular aneurysms.

Aneurisma sacular intracraniano: apresentaçäo de três casos em uma mesma família / Intracranial saccular aneurysm: report of 3 cases in a same family

Os autores apresentan os casos de três irmäos com diagnóstico de aneurisma sacular intracraniano, fazendo breve revisäo da literatura enfocando possíveis aspectos etiopatogênicos implicados

[Iatrogeny. The importance of clinical diagnosis. Myopathies induced by clofibrate]. / Iatrogenia. A importância do diagnóstico clínico. Miopatia induzida por clofibrate.

The authors describe the neurological manifestations of a female patient with hypercholesterolemia who developed myopathy in the course of her treatment with clofibrate. After the drug was tapered off, the neurological signs and symptoms disappeared. Therefore, attention is called for the importance of the differential diagnosis of iatrogenic myopathies with polymyositis.

Esclerose lateral amiotrófica: variante distal dos membros inferiores; apresentaçäo de três casos / Amyotrophic lateral sclerosis: distal variant of the lower extremities; report of 3 cases

Os autores apresentam três casos de pacientes com esclerose lateral amiotrófica, variante de patrikios, chamando a atençäo para a importância do diagnóstico diferencial desta com as neuropatias periféricas

Prions / Prions

Os autores se propöem a revisar alguns aspectos básicos sobre os prions, alertando sobre a possível participaçäo destes na etiología de algumas enfermidades degenerativas do sistema nervoso