Spinocerebellar ataxia clinical trials: opportunities and challenges

SM Brooker, CR Edamakanti… - Annals of clinical …, 2021 - Wiley Online Library
The spinocerebellar ataxias (SCAs) are a group of dominantly inherited diseases that share
the defining feature of progressive cerebellar ataxia. The disease process, however, is not …

Spinocerebellar ataxias

BW Soong, PJ Morrison - Handbook of clinical neurology, 2018 - Elsevier
There are over 40 autosomal dominant spinocerebellar ataxias (SCAs) now identified. In this
chapter we delineate the phenotypes of SCAs 1-44 and dentatorubral-pallidoluysian atrophy …

Genotype-specific patterns of atrophy progression are more sensitive than clinical decline in SCA1, SCA3 and SCA6

K Reetz, AS Costa, S Mirzazade, A Lehmann, A Juzek… - Brain, 2013 - academic.oup.com
Spinocerebellar ataxias are dominantly inherited disorders that are associated with
progressive brain degeneration, mainly affecting the cerebellum and brainstem. As part of …

Cerebellum in Alzheimer's disease and other neurodegenerative diseases: an emerging research frontier

C Yang, G Liu, X Chen, W Le - MedComm, 2024 - Wiley Online Library
The cerebellum is crucial for both motor and nonmotor functions. Alzheimer's disease (AD),
alongside other dementias such as vascular dementia (VaD), Lewy body dementia (DLB) …

spinocerebellar ataxias as diseases of Purkinje cell dysfunction rather than Purkinje cell loss

JP Kapfhammer, E Shimobayashi - Frontiers in Molecular …, 2023 - frontiersin.org
Spinocerebellar ataxias (SCAs) are a group of hereditary neurodegenerative diseases
mostly affecting cerebellar Purkinje cells caused by a wide variety of different mutations. One …

MR imaging of sca3/mjd

N Wan, Z Chen, L Wan, B Tang, H Jiang - Frontiers in neuroscience, 2020 - frontiersin.org
Spinocerebellar ataxia type 3/Machado–Joseph disease (SCA3/MJD) is a progressive
autosomal dominantly inherited cerebellar ataxia characterized by the aggregation of …

A multimodal evaluation of microstructural white matter damage in spinocerebellar ataxia type 3

RP Guimarães, A D'Abreu, CL Yasuda… - Movement …, 2013 - Wiley Online Library
Although white matter damage may play a major role in the pathogenesis of spinocerebellar
ataxia 3 (SCA3), available data rely exclusively upon macrostructural analyses. In this …

Voxel-based meta-analysis of gray matter and white matter changes in patients with spinocerebellar ataxia type 3

H Liu, J Lin, H Shang - Frontiers in Neurology, 2023 - frontiersin.org
Purpose Increasing neuroimaging studies have revealed gray matter (GM) and white matter
(WM) anomalies of several brain regions by voxel-based morphometry (VBM) studies on …

Spinocerebellar ataxia type 1: one-year longitudinal study to identify clinical and MRI measures of disease progression in patients and presymptomatic carriers

A Nigri, L Sarro, A Mongelli, A Castaldo, L Porcu… - The Cerebellum, 2022 - Springer
Abstract Spinocerebellar ataxias type 1 (SCA1) is an autosomal dominant disease usually
manifesting in adulthood. We performed a prospective 1-year longitudinal study in 14 …

Cerebral cortex involvement in Machado− Joseph disease

TJR De Rezende, A D'abreu… - European journal of …, 2015 - Wiley Online Library
Background and purpose Machado− Joseph disease (MJD/SCA 3) is the most frequent
spinocerebellar ataxia, characterized by brainstem, basal ganglia and cerebellar damage …