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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 ...
Autosomal Recessive Cerebellar Ataxias in South America: A Multicenter Study of 1338 Patients
(Wiley, 2022)
Autosomal recessive cerebellar ataxias (ARCAs) comprisecomplex genetic ataxia disorders with variable central andperipheral nervous system involvement and systemic changes.They can overlap with other conditions such as ...
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): typical clinical and neuroimaging features in a Brazilian family
(Academia Brasileira de Neurologia - ABNEURO, 2011-01-01)
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder characterized by late-infantile onset spastic ataxia and other neurological features. ARSACS has a high prevalence in ...
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 ...
Novel Variants in ATM Causing Mild Ataxia-Telangiectasia: From Benchside to Bedside and Back Again
(Wiley Blackwell Publishing, Inc, 2020-07)
Ataxia-telangiectasia (A-T) is one of the most frequent recessive ataxias worldwide. The disease results from biallelic pathogenic variants in ATM gene, coding for a high-molecular-weight protein kinase involved in ...
Impacto psicológico de la Ataxia de Friedreich, en pacientes y familiares
(Ediciones Universidad Simón BolívarFacultad de Ciencias de la Salud, 2021)
El termino ataxia de Friedrich (FRDA) normalmente se caracteriza por una ataxia lentamente progresiva con inicio antes de la edad de 25 años, normalmente está asociada con reflejos del tendón deprimidos, disartria, respuestas ...
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 ...