[HTML][HTML] Spinocerebellar ataxia type 2: clinicogenetic aspects, mechanistic insights, and management approaches
LC Velázquez-Pérez, R Rodríguez-Labrada… - Frontiers in …, 2017 - frontiersin.org
Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant cerebellar ataxia that
occurs as a consequence of abnormal CAG expansions in the ATXN2 gene. Progressive …
occurs as a consequence of abnormal CAG expansions in the ATXN2 gene. Progressive …
Brain atrophy measures in preclinical and manifest spinocerebellar ataxia type 2
K Reetz, R Rodríguez‐Labrada, I Dogan… - Annals of clinical …, 2018 - Wiley Online Library
Objective Spinocerebellar ataxia type 2 (SCA 2) is an autosomal dominantly inherited
neurodegenerative disease mainly affecting the cerebellum and brainstem. In this Cuban …
neurodegenerative disease mainly affecting the cerebellum and brainstem. In this Cuban …
Language deficits as a preclinical window into Parkinson's disease: evidence from asymptomatic parkin and dardarin mutation carriers
AM García, L Sedeño, N Trujillo… - Journal of the …, 2017 - cambridge.org
Objectives: The worldwide spread of Parkinson's disease (PD) calls for sensitive and
specific measures enabling its early (or, ideally, preclinical) detection. Here, we use …
specific measures enabling its early (or, ideally, preclinical) detection. Here, we use …
Progression of cerebellar atrophy in spinocerebellar ataxia type 2 gene carriers: a longitudinal MRI study in preclinical and early disease stages
Spinocerebellar ataxias type 2 (SCA2) is an autosomal dominant inherited disease caused
by expanded trinucleotide repeats (≥ 32 CAG) within the coding region of ATXN2 gene …
by expanded trinucleotide repeats (≥ 32 CAG) within the coding region of ATXN2 gene …
Disability in cerebellar ataxia syndromes is linked to cortical degeneration
Objective We aimed to relate clinical measures of disability in chronic cerebellar
degeneration to structural whole-brain changes using voxel-based and surface-based …
degeneration to structural whole-brain changes using voxel-based and surface-based …
[HTML][HTML] Neural substrates of motor and cognitive dysfunctions in SCA2 patients: a network based statistics analysis
G Olivito, M Cercignani, M Lupo, C Iacobacci… - NeuroImage: Clinical, 2017 - Elsevier
Abstract Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant neurodegenerative
disease characterized by a progressive cerebellar syndrome, which can be isolated or …
disease characterized by a progressive cerebellar syndrome, which can be isolated or …
[HTML][HTML] Cerebello-cortical alterations linked to cognitive and social problems in patients with spastic paraplegia type 7: a preliminary study
Spastic paraplegia type 7 (SPG7), which represents one of the most common forms of
autosomal recessive spastic paraplegia (MIM# 607259), often manifests with a complicated …
autosomal recessive spastic paraplegia (MIM# 607259), often manifests with a complicated …
Structural complexity of the cerebellum and cerebral cortex is reduced in spinocerebellar ataxia type 2
ABSTRACT BACKGROUND AND PURPOSE Fractal dimension (FD) is an index of structural
complexity of cortical gray matter (GM) and white matter (WM). Application of FD to …
complexity of cortical gray matter (GM) and white matter (WM). Application of FD to …
Monitoring disease progression in spinocerebellar ataxias: implications for treatment and clinical research
L Sarro, L Nanetti, A Castaldo… - Expert review of …, 2017 - Taylor & Francis
ABSTRACT Introduction: Spinocerebellar ataxias (SCAs) are autosomal dominant diseases
characterized by progressive gait and limb incoordination, disequilibrium, dysarthria, and …
characterized by progressive gait and limb incoordination, disequilibrium, dysarthria, and …
Psychiatric-like impairments in mouse models of spinocerebellar ataxias
F Tichanek - The Cerebellum, 2023 - Springer
Many patients with spinocerebellar ataxia (SCA) suffer from diverse neuropsychiatric issues,
including memory impairments, apathy, depression, or anxiety. These neuropsychiatric …
including memory impairments, apathy, depression, or anxiety. These neuropsychiatric …