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Características clínicas de 63 pacientes con ataxia
(2018)
Background: Ataxia can be classified as genetic, sporadic or acquired.
Aim: To report the clinical features of a group of patients with ataxia. Material
and Methods: Review of medical records of patients consulting in a ...
Características clínicas de 63 pacientes con ataxia
(2018)
Background: Ataxia can be classified as genetic, sporadic or acquired.
Aim: To report the clinical features of a group of patients with ataxia. Material and Methods: Review of medical records of patients consulting in a ...
Autosomal recessive ataxias: 20 types, and counting
(Academia Brasileira de Neurologia - ABNEURO, 2009)
More than 140 years after the first description of Friedreich ataxia, autosomal recessive ataxias have become one of the more complex fields in Neurogenetics. Currently this group of diseases contains more than 20 clinical ...
Clinical spectrum of early onset cerebellar ataxia with retained tendon reflexes: an autosomal recessive ataxia not to be missed
(Academia Brasileira de Neurologia - ABNEURO, 2013-06-01)
Autosomal recessive cerebellar ataxias are a heterogeneous group of neurological disorders. In 1981, a neurological entity comprised by early onset progressive cerebellar ataxia, dysarthria, pyramidal weakness of the limbs ...
Spinocerebellar ataxias - genotype-phenotype correlations in 104 Brazilian families
(Hospital Clinicas, Univ Sao PauloSao PauloBrasil, 2012)
Adult onset sporadic ataxias: a diagnostic challenge
(Academia Brasileira de Neurologia - ABNEURO, 2014-03-01)
Patients with adult onset non-familial progressive ataxia are classified in sporadic ataxia group. There are several disease categories that may manifest with sporadic ataxia: toxic causes, immune-mediated ataxias, vitamin ...
Genetic analysis of hereditary ataxias in Peru identifies SCA10 families with incomplete penetrance
(Springer, 2020)
Relative frequency of hereditary ataxias remains unknown in many regions of Latin America. We described the relative frequency in spinocerebellar ataxias (SCA) due to (CAG)n and to (ATTCT)n expansions, as well as Friedreich ...
Translation and validation into Brazilian version of the Scale of the Assessment and Rating of Ataxia (SARA)
(Academia Brasileira de Neurologia - ABNEURO, 2010-04-01)
The hereditary ataxias comprise a very large spectrum of genetically determined neurodegenerative disorders with progressive ataxia as the prominent symptom. In order to measure the severity of cerebellar ataxia in an ...