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 …

Cognitive impairment and its neuroimaging correlates in spinocerebellar ataxia 2

A Stezin, S Bhardwaj, S Hegde, S Jain… - Parkinsonism & related …, 2021 - Elsevier
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 …

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 …

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 …

Cognitive impairment in spinocerebellar ataxia type 12

A Agarwal, H Kaur, A Agarwal, A Nehra… - Parkinsonism & Related …, 2021 - Elsevier
Introduction Cognitive impairment has now been recognised to be present 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 …

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 …

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 …

Reference values for the Cerebellar Cognitive Affective Syndrome Scale: age and education matter

A Thieme, S Röske, J Faber, P Sulzer, M Minnerop… - Brain, 2021 - academic.oup.com
During recent decades, many studies have yielded evidence for cerebellar involvement in
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) …