22 documents found, page 1 of 3

Itajaí, Santa Catarina – Azorean ancestry and spinocerebellar ataxia type 3

ABSTRACT The authors present a historical review of spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD), the most common form of spinocerebellar ataxia in Brazil, and consider the high frequency of cases in families from Itajaí, a city on the coast of the state of Santa Catarina with a large population of Portuguese/Azorean descent.

Cerebellum and Cognition Henrietta Leiner's contribution. Historical note

ABSTRACT The authors present the scientific contribution of Professor Henrietta C. Leiner, one of the pioneering scientists in the study of cognitive function of the cerebellum.

Idiopathic very late-onset cerebellar ataxia: a Brazilian case series

ABSTRACTThe authors present a Brazilian case series of eight patients with idiopathic very-late onset (mean 75.5 years old) cerebellar ataxia, featuring predominantly gait ataxia, associated with cerebellar atrophy.Method: 26 adult patients with a diagnosis of idiopathic late onset cerebellar ataxia were analyzed in a Brazilian ataxia outpatient clinic and followed regularly over 20 years. Among them, 8 elderly...

Spinocerebellar ataxia type 3: subphenotypes in a cohort of brazilian patients

Spinocerebellar ataxia type 3 (SCA3) involves cerebellar, pyramidal, extrapyramidal, motor neuron and oculomotor systems with strong phenotypic heterogeneity, that lead us to classify the disorder into different clinical subtypes according to the predominantly affected motor systems. Method The series comprises 167 SCA3 patients belonging to 68 pedigrees, studied from 1989-2013. These patients were categorized ...

Neurological disorders associated with glutamic acid decarboxylase antibodies: ...

Neurological disorders associated with glutamic acid decarboxylase (GAD) antibodies are rare pleomorphic diseases of uncertain cause, of which stiff-person syndrome (SPS) is the best-known. Here, we described nine consecutive cases of neurological disorders associated with anti-GAD, including nine patients with SPS and three cases with cerebellar ataxia. Additionally, four had hypothyroidism, three epilepsy, tw...

Coma scales: a historical review

OBJECTIVE: To describe the most important coma scales developed in the last fifty years. METHOD: A review of the literature between 1969 and 2009 in the Medline and Scielo databases was carried out using the following keywords: coma scales, coma, disorders of consciousness, coma score and levels of coma. RESULTS: Five main scales were found in chronological order: the Jouvet coma scale, the Moscow coma scale, t...

Did darwin have syncope caused by chagas' disease?

The history of spinocerebellar ataxia type 10 in Brazil: travels of a gene

The authors report the history of spinocerebellar ataxia 10 (SCA10), since its first report in a large Portuguese-ancestry Family with autosomal dominant pure cerebellar ataxia, till the final identification of further families without Mexican ancestry. These families present a quite different phenotype from those SCA10 families described in Mexico.

Rosalie: the brazilian female monkey of Charcot

Jean-Martin Charcot, the father of Neurology, a very austere and reserved man that did not express affection freely for human being, had a profound affection to animals, particularly to a small female monkey, called "Rosalie", which came from Brazil and was a gift of Dom Pedro II to Charcot.

Inflammatory myopathy on HTLV-I infection: case report

We describe a 41 years old woman who 17 years ago presented hypotonia and proximal muscular weakness in the upper and lower limbs. On neurological examination, the biceps, triceps and Achilles reflexes were absent; the brachioradialis reflexes were decreased and the patellar reflexes were normal. There was bilateral Babinski sign. The remainder of the neurological examination was unremarkable. In the investigat...