Oculomotor deficits in spinocerebellar ataxia type 3: potential biomarkers of preclinical detection and disease progression
C Wu, DB Chen, L Feng, XX Zhou… - CNS neuroscience & …, 2017 - Wiley Online Library
Aims To detect specific oculomotor deficits in preclinical stage of spinocerebellar ataxia type
3 (SCA 3) and evaluate whether these abnormalities prove useful as potential biomarkers of …
3 (SCA 3) and evaluate whether these abnormalities prove useful as potential biomarkers of …
Quantitative assessment of cerebral blood flow in genetically confirmed spinocerebellar ataxia type 6
K Honjo, T Ohshita, H Kawakami, H Naka… - Archives of …, 2004 - jamanetwork.com
Background Spinocerebellar ataxia type 6 (SCA6) is an autosomal dominant cerebellar
ataxia caused by CAG trinucleotide expansion. The characteristics of regional cerebral …
ataxia caused by CAG trinucleotide expansion. The characteristics of regional cerebral …
SCA Functional Index: a useful compound performance measure for spinocerebellar ataxia
T Schmitz-Hubsch, P Giunti, DA Stephenson… - Neurology, 2008 - AAN Enterprises
Objective: To evaluate the usefulness of functional measures in patients with
spinocerebellar ataxia (SCA). Methods: We assessed three functional measures—8 m …
spinocerebellar ataxia (SCA). Methods: We assessed three functional measures—8 m …
Fatigue and its associated factors in spinocerebellar ataxia type 3/Machado-Joseph disease
ARM Martinez, MB Nunes, I Faber, A D'Abreu… - The Cerebellum, 2017 - Springer
Fatigue has been described in several neurodegenerative diseases, reducing quality of life.
A systematic evaluation of this clinical feature is lacking in SCA3/MJD. The aim of this study …
A systematic evaluation of this clinical feature is lacking in SCA3/MJD. The aim of this study …
Structural signature of SCA3: from presymptomatic to late disease stages
TJR Rezende, JLR de Paiva, ARM Martinez… - Annals of …, 2018 - Wiley Online Library
Objective Machado–Joseph disease (SCA3/MJD) is the most frequent spinocerebellar
ataxia worldwide and characterized by brainstem, basal ganglia, and cerebellar damage …
ataxia worldwide and characterized by brainstem, basal ganglia, and cerebellar damage …
[HTML][HTML] Unique degeneration signatures in the cerebellar cortex for spinocerebellar ataxias 2, 3, and 7
Spinocerebellar ataxias (SCAs) are a heterogeneous group of neurodegenerative diseases
that selectively affect vulnerable neuronal populations in the cerebellum and other …
that selectively affect vulnerable neuronal populations in the cerebellum and other …
Spinocerebellar ataxia type 6: genotype and phenotype in German kindreds
L Schöls, R Krüger, G Amoiridis, H Przuntek… - Journal of Neurology …, 1998 - jnnp.bmj.com
OBJECTIVE Spinocerebellar ataxia type 6 (SCA6) is an autosomal dominant cerebellar
ataxia (ADCA) of which the mutation causing the disease has recently been characterised …
ataxia (ADCA) of which the mutation causing the disease has recently been characterised …
[HTML][HTML] A 3-year cohort study of the natural history of spinocerebellar ataxia type 6 in Japan
K Yasui, I Yabe, K Yoshida, K Kanai, K Arai… - Orphanet journal of rare …, 2014 - Springer
Background Only a few prospective studies have determined which clinical symptoms and
factors are associated with the disease severity of spinocerebellar ataxia type 6 (SCA6). A …
factors are associated with the disease severity of spinocerebellar ataxia type 6 (SCA6). A …
Quantitative assessment of brain stem and cerebellar atrophy in spinocerebellar ataxia types 3 and 6: impact on clinical status
L Eichler, B Bellenberg, HK Hahn… - American journal …, 2011 - Am Soc Neuroradiology
BACKGROUND AND PURPOSE: Cerebellar and brain stem atrophy are important features
in SCA3, whereas SCA6 has been regarded as a “pure” cerebellar disease. However …
in SCA3, whereas SCA6 has been regarded as a “pure” cerebellar disease. However …
SCA-12: Tremor with cerebellar and cortical atrophy is associated with a CAG repeat expansion
E O'Hearn, SE Holmes, PC Calvert, CA Ross… - Neurology, 2001 - AAN Enterprises
Objective: To characterize the clinical and neuroradiologic features of a new spinocerebellar
ataxia, SCA-12, in the index family. Background: The authors recently linked SCA-12 to a …
ataxia, SCA-12, in the index family. Background: The authors recently linked SCA-12 to a …