Spinocerebellar ataxias in Southern Brazil: Genotypic and phenotypic evaluation of 213 families
FA Nascimento, VOR Rodrigues, FC Pelloso… - Clinical Neurology and …, 2019 - Elsevier
Objectives To describe and correlate the genotype and phenotype of patients diagnosed
with SCAs in southern of Brazil. Patients and methods Data were collected from the records …
with SCAs in southern of Brazil. Patients and methods Data were collected from the records …
Mutational screening of 320 Brazilian patients with autosomal dominant spinocerebellar ataxia
VP Cintra, CM Lourenço, SE Marques… - Journal of the …, 2014 - Elsevier
Autosomal dominant spinocerebellar ataxias (SCAs) are a clinical and genetically
heterogeneous group of debilitating neurodegenerative diseases that are related to at least …
heterogeneous group of debilitating neurodegenerative diseases that are related to at least …
Genetic Epidemiology and Clinical Characteristics of Patients with Spinocerebellar Ataxias in an Unexplored Brazilian State, Using Strategies for Resource-Limited …
DBV Moraes, TLC Coradine, EVL Silva… - The Cerebellum, 2024 - Springer
Spinocerebellar ataxias (SCAs) have a worldwide average prevalence of 2.7 cases per
100,000 individuals, with significant geographic variability. This study aimed to develop …
100,000 individuals, with significant geographic variability. This study aimed to develop …
Bolivian kindred with combined spinocerebellar ataxia types 2 and 10
JF Baizabal‐Carvallo, G Xia, P Botros… - Acta Neurologica …, 2015 - Wiley Online Library
Background Spinocerebellar ataxias (SCA) are a group of rare hereditary
neurodegenerative disorders. Rare cases of two SCA mutations in the same individual have …
neurodegenerative disorders. Rare cases of two SCA mutations in the same individual have …
Clinical and genetic evaluation of spinocerebellar ataxia type 10 in 16 Brazilian families
BMD Domingues, FA Nascimento, AT Meira, A Moro… - The Cerebellum, 2019 - Springer
Abstract Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant disorder in
which patients have a slowly progressive cerebellar ataxia, with dysarthria, dysphagia, and …
which patients have a slowly progressive cerebellar ataxia, with dysarthria, dysphagia, and …
Spinocerebellar ataxias in Brazil—frequencies and modulating effects of related genes
RM de Castilhos, GV Furtado, TC Gheno, P Schaeffer… - The Cerebellum, 2014 - Springer
This study describes the frequency of spinocerebellar ataxias and of CAG repeats range in
different geographical regions of Brazil, and explores the hypothetical role of normal CAG …
different geographical regions of Brazil, and explores the hypothetical role of normal CAG …
Spinocerebellar ataxia in a cohort of patients from Rio de Janeiro
MP Alvarenga, LC Siciliani, RS Carvalho… - Neurological …, 2022 - Springer
Objective The objective of this study is to describe the first series of spinocerebellar ataxia
(SCA) in Rio de Janeiro, whose population has a high proportion of mixed Portuguese and …
(SCA) in Rio de Janeiro, whose population has a high proportion of mixed Portuguese and …
Spinocerebellar ataxias in Venezuela: genetic epidemiology and their most likely ethnic descent
I Paradisi, V Ikonomu, S Arias - Journal of human genetics, 2016 - nature.com
Dominantly inherited ataxias (spinocerebellar ataxias, SCAs) are a genetically
heterogeneous group of neurologic diseases characterized by progressive cerebellar and …
heterogeneous group of neurologic diseases characterized by progressive cerebellar and …
Frequency of the different mutations causing spinocerebellar ataxia (SCA1, SCA2, MJD/SCA3 and DRPLA) in a large group of Brazilian patients
I Lopes-Cendesi, HGA Teive… - Arquivos de Neuro …, 1997 - SciELO Brasil
Spinocerebellar ataxia type 1 (SCA1), spinocerebellar ataxia type 2 (SCA2) and Machado-
Joseph disease or spinocerebellar ataxia type 3 (MJD/SCA3) are three distinctive forms of …
Joseph disease or spinocerebellar ataxia type 3 (MJD/SCA3) are three distinctive forms of …
Clinical phenotype of Brazilian families with spinocerebellar ataxia 10
HAG Teive, BB Roa, S Raskin, P Fang, WO Arruda… - Neurology, 2004 - AAN Enterprises
Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant ataxia caused by an
ATTCT repeat expansion in an intron of the SCA10 gene. SCA10 has been reported only in …
ATTCT repeat expansion in an intron of the SCA10 gene. SCA10 has been reported only in …
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