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 …
Cognitive impairment and its neuroimaging correlates in spinocerebellar ataxia 2
Introduction Cognitive impairment (CI) is reported but is poorly explored in spinocerebellar
ataxia 2 (SCA2). This study was undertaken to evaluate and classify cognitive impairment in …
ataxia 2 (SCA2). This study was undertaken to evaluate and classify cognitive impairment in …
Extra-cerebellar signs and non-motor features in Chinese patients with spinocerebellar ataxia type 3
X Yuan, R Ou, Y Hou, X Chen, B Cao, X Hu… - Frontiers in …, 2019 - frontiersin.org
Objectives: Our study attempted to systematically explore the prevalence of extra-cerebellar
signs and non-motor symptoms, such as anxiety, depression, fatigue, excessive daytime …
signs and non-motor symptoms, such as anxiety, depression, fatigue, excessive daytime …
Factors influencing disease progression in autosomal dominant cerebellar ataxia and spastic paraplegia
ST du Montcel, P Charles, C Goizet… - Archives of …, 2012 - jamanetwork.com
Objectives To evaluate disease progression and determine validity of clinical tools for
therapeutic trials. Design Prospective cohort study (36 months). Setting Referral center …
therapeutic trials. Design Prospective cohort study (36 months). Setting Referral center …
Cognitive impairment in spinocerebellar ataxia type 12
Introduction Cognitive impairment has now been recognised to be present in patients with
several of spinocerebellar ataxias (SCAs). Cognitive impairment in patients with …
several of spinocerebellar ataxias (SCAs). Cognitive impairment in patients with …
Presymptomatic analysis of spinocerebellar ataxia type 1 (SCA1) via the expansion of the SCA1 CAG-repeat in a large pedigree displaying anticipation and parental …
T Matilla, V Volpinl, D Genis, J Rosell… - Human molecular …, 1993 - academic.oup.com
Autosomal dominant cerebellar ataxia type 1 (ADCA1) is a clinical and genetic
heterogeneous neurodegenerative disorder which leads to progressive cerebellar ataxia …
heterogeneous neurodegenerative disorder which leads to progressive cerebellar ataxia …
Analysis of SCA1, DRPLA, MJD, SCA2, and SCA6 CAG repeats in 48 Portuguese ataxia families
I Silveira, P Coutinho, P Maciel… - American journal of …, 1998 - Wiley Online Library
The spinocerebellar ataxias (SCAs) are clinically and genetically a heterogeneous group of
neurodegenerative disorders. To date, eight different loci causing SCA have been identified …
neurodegenerative disorders. To date, eight different loci causing SCA have been identified …
Comprehensive study of early features in spinocerebellar ataxia 2: delineating the prodromal stage of the disease
L Velázquez-Pérez, R Rodríguez-Labrada… - The Cerebellum, 2014 - Springer
The prodromal phase of spinocerebellar ataxias (SCAs) has not been systematically
studied. Main findings come from a homogeneous SCA type 2 (SCA2) population living in …
studied. Main findings come from a homogeneous SCA type 2 (SCA2) population living in …
Reference values for the Cerebellar Cognitive Affective Syndrome Scale: age and education matter
During recent decades, many studies have yielded evidence for cerebellar involvement in
cognitive, emotional and affective processes besides the well-known cerebellar contribution …
cognitive, emotional and affective processes besides the well-known cerebellar contribution …
Selective patterns of cognitive impairment in spinocerebellar ataxia type 6 and idiopathic late-onset cerebellar ataxia
ZS Rentiya, BC Jung, J Bae… - Archives of Clinical …, 2018 - academic.oup.com
Purpose To determine cognitive impairment patterns in patients with spinocerebellar ataxia
type 6 (SCA6) compared to patients with idiopathic late-onset cerebellar ataxia (ILOCA) …
type 6 (SCA6) compared to patients with idiopathic late-onset cerebellar ataxia (ILOCA) …