Spinocerebellar Ataxia Type 2: Clinicogenetic Aspects, Mechanistic Insights, and Management Approaches

Association of glutathione S-transferase omega polymorphism and spinocerebellar ataxia type 2

(2017) Luis E. Almaguer-Mederos et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Prodromal spinocerebellar ataxia type 2: Prospects for early interventions and ethical challenges

(2017) Luis Velázquez-Pérez et al.   MOVEMENT DISORDERS

Therapeutic reduction of ataxin-2 extends lifespan and reduces pathology in TDP-43 mice

(2017) Lindsay A. Becker et al.   NATURE

Antisense oligonucleotide therapy for spinocerebellar ataxia type 2

(2017) Daniel R. Scoles et al.   NATURE

Unraveling the Role of Ataxin-2 in Metabolism

(2017) Sara Carmo-Silva et al.   TRENDS IN ENDOCRINOLOGY AND METABOLISM

Efficient Prevention of Neurodegenerative Diseases by Depletion of Starvation Response Factor Ataxin-2

(2017) Georg Auburger et al.   TRENDS IN NEUROSCIENCES

Ataxin-2: From RNA Control to Human Health and Disease

(2017) Lauren Ostrowski et al.   Genes

Spinocerebellar Ataxia Type 2 Is Associated with the Extracellular Loss of Superoxide Dismutase but Not Catalase Activity

(2017) Dennis Almaguer-Gotay et al.   Frontiers in Neurology

ATXN2-AS, a gene antisense toATXN2, is associated with spinocerebellar ataxia type 2 and amyotrophic lateral sclerosis

(2016) Pan P. Li et al.   ANNALS OF NEUROLOGY

Mammalian ataxin-2 modulates translation control at the pre-initiation complex via PI3K/mTOR and is induced by starvation

(2016) Isabel Lastres-Becker et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

On the distribution of intranuclear and cytoplasmic aggregates in the brainstem of patients with spinocerebellar ataxia type 2 and 3

(2016) Kay Seidel et al.   BRAIN PATHOLOGY

Atxn2 Knockout and CAG42-Knock-in Cerebellum Shows Similarly Dysregulated Expression in Calcium Homeostasis Pathway

(2016) Melanie Vanessa Halbach et al.   CEREBELLUM

Postural Instability in Prodromal Spinocerebellar Ataxia Type 2: Insights into Cerebellar Involvement Before Onset of Permanent Ataxia

(2016) Luis Velázquez-Pérez et al.   CEREBELLUM

Impact of Ataxin-2 knock out on circadian locomotor behavior and PER immunoreaction in the SCN of mice

(2016) Martina Pfeffer et al.   CHRONOBIOLOGY INTERNATIONAL

Abnormal corticospinal tract function and motor cortex excitability in non-ataxic SCA2 mutation carriers: A TMS study

(2016) Luis Velázquez-Pérez et al.   CLINICAL NEUROPHYSIOLOGY

The RNA-binding protein ATX-2 regulates cytokinesis through PAR-5 and ZEN-4

(2016) Megan M. Gnazzo et al.   MOLECULAR BIOLOGY OF THE CELL

Spinocerebellar ataxia type 2: Measures of saccade changes improve power for clinical trials

(2016) Roberto Rodríguez-Labrada et al.   MOVEMENT DISORDERS

Climbing fibers in spinocerebellar ataxia: A mechanism for the loss of motor control

(2016) C.J.L.M. Smeets et al.   NEUROBIOLOGY OF DISEASE

Depression and clinical progression in spinocerebellar ataxias

(2016) Raymond Y. Lo et al.   PARKINSONISM & RELATED DISORDERS

ATX-2, the C. elegans Ortholog of Human Ataxin-2, Regulates Centrosome Size and Microtubule Dynamics

(2016) Michael D. Stubenvoll et al.   PLoS Genetics

Motor Dysfunctions and Neuropathology in Mouse Models of Spinocerebellar Ataxia Type 2: A Comprehensive Review

(2016) João M. Da Conceição Alves-Cruzeiro et al.   Frontiers in Neuroscience

Re-establishing ataxin-2 downregulates translation of mutant ataxin-3 and alleviates Machado–Joseph disease

(2015) Clévio Nóbrega et al.   BRAIN

Peripheral Neuropathy in Spinocerebellar Ataxia Type 1, 2, 3, and 6

(2015) Christoph Linnemann et al.   CEREBELLUM

mTOR signaling in cellular and organismal energetics

(2015) Verena Albert et al.   CURRENT OPINION IN CELL BIOLOGY

Spinocerebellar ataxias in Venezuela: genetic epidemiology and their most likely ethnic descent

(2015) Irene Paradisi et al.   JOURNAL OF HUMAN GENETICS

Strategy Use, Planning, and Rule Acquisition Deficits in Spinocerebellar Ataxia Type 2 Patients

(2015) Israel Vaca-Palomares et al.   JOURNAL OF THE INTERNATIONAL NEUROPSYCHOLOGICAL SOCIETY

Riluzole in patients with hereditary cerebellar ataxia: a randomised, double-blind, placebo-controlled trial

(2015) Silvia Romano et al.   LANCET NEUROLOGY

Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study

(2015) Heike Jacobi et al.   LANCET NEUROLOGY

PAS kinase is activated by direct SNF1-dependent phosphorylation and mediates inhibition of TORC1 through the phosphorylation and activation of Pbp1

(2015) Desiree DeMille et al.   MOLECULAR BIOLOGY OF THE CELL

Functional connectivity changes related to cognitive and motor performance in spinocerebellar ataxia type 2

(2015) Carlos R. Hernandez-Castillo et al.   MOVEMENT DISORDERS

The preclinical stage of spinocerebellar ataxias

(2015) Roderick P.P.W.M. Maas et al.   NEUROLOGY

Extensive White Matter Alterations and Its Correlations with Ataxia Severity in SCA 2 Patients

(2015) Carlos R. Hernandez-Castillo et al.   PLoS One

Executive deficit in spinocerebellar ataxia type 2 is related to expanded CAG repeats: Evidence from antisaccadic eye movements

(2014) Roberto Rodríguez-Labrada et al.   BRAIN AND COGNITION

Consensus Paper: Radiological Biomarkers of Cerebellar Diseases

(2014) Leonardo Baldarçara et al.   CEREBELLUM

Comprehensive Study of Early Features in Spinocerebellar Ataxia 2: Delineating the Prodromal Stage of the Disease

(2014) Luis Velázquez-Pérez et al.   CEREBELLUM

A randomized controlled pilot trial of lithium in spinocerebellar ataxia type 2

(2014) Francesco Saccà et al.   JOURNAL OF NEUROLOGY

Parahippocampal gray matter alterations in Spinocerebellar Ataxia Type 2 identified by voxel based morphometry

(2014) Roberto E. Mercadillo et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Progression of early features of spinocerebellar ataxia type 2 in individuals at risk: a longitudinal study

(2014) Luis Velázquez-Pérez et al.   LANCET NEUROLOGY

Direct Binding of Ataxin-2 to Distinct Elements in 3′ UTRs Promotes mRNA Stability and Protein Expression

(2014) Moe Yokoshi et al.   MOLECULAR CELL

Progression of Brain Atrophy in Spinocerebellar Ataxia Type 2: A Longitudinal Tensor-Based Morphometry Study

(2014) Mario Mascalchi et al.   PLoS One

Large normal alleles and SCA2 prevalence: lessons from a nationwide study and analysis of the literature

(2013) J.M. Laffita-Mesa et al.   CLINICAL GENETICS

Biological and clinical characteristics of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 in the longitudinal RISCA study: analysis of baseline data

(2013) Heike Jacobi et al.   LANCET NEUROLOGY

Clinical characteristics of patients with spinocerebellar ataxias 1, 2, 3 and 6 in the US; a prospective observational study

(2013) Tetsuo Ashizawa et al.   Orphanet Journal of Rare Diseases

De Novo Mutations in Ataxin-2 Gene and ALS Risk

(2013) José Miguel Laffita-Mesa et al.   PLoS One

FMRP and Ataxin-2 function together in long-term olfactory habituation and neuronal translational control

(2013) I. P. Sudhakaran et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

ATAXIN-2 Activates PERIOD Translation to Sustain Circadian Rhythms in Drosophila

(2013) C. Lim et al.   SCIENCE

Brain pathology of spinocerebellar ataxias

(2012) Kay Seidel et al.   ACTA NEUROPATHOLOGICA

Factors Influencing Disease Progression in Autosomal Dominant Cerebellar Ataxia and Spastic Paraplegia

(2012) Perrine Charles   ARCHIVES OF NEUROLOGY

Lisuride Reduces Involuntary Periodic Leg Movements in Spinocerebellar Ataxia Type 2 Patients

(2012) Luis Velázquez-Pérez et al.   CEREBELLUM

Autonomic dysfunction in presymptomatic spinocerebellar ataxia type-2

(2011) J. Montes-Brown et al.   ACTA NEUROLOGICA SCANDINAVICA

Linking coordinative and executive dysfunctions to atrophy in spinocerebellar ataxia 2 patients

(2011) Federico D’Agata et al.   Brain Structure & Function

A Comprehensive Review of Spinocerebellar Ataxia Type 2 in Cuba

(2011) Luis Velázquez-Pérez et al.   CEREBELLUM

Infantile Childhood Onset of Spinocerebellar Ataxia Type 2

(2011) Roberto Di Fabio et al.   CEREBELLUM

MRI Shows a Region-Specific Pattern of Atrophy in Spinocerebellar Ataxia Type 2

(2011) Brian C. Jung et al.   CEREBELLUM

Unexpanded and intermediate CAG polymorphisms at the SCA2 locus (ATXN2) in the Cuban population: evidence about the origin of expanded SCA2 alleles

(2011) José Miguel Laffita-Mesa et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Ataxin-2 repeat-length variation and neurodegeneration

(2011) O. A. Ross et al.   HUMAN MOLECULAR GENETICS

Saccadic latency is prolonged in Spinocerebellar Ataxia type 2 and correlates with the frontal-executive dysfunctions

(2011) Roberto Rodríguez-Labrada et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Depression comorbidity in spinocerebellar ataxia

(2011) Tanja Schmitz-Hübsch et al.   MOVEMENT DISORDERS

Oral Zinc Sulphate Supplementation for Six Months in SCA2 Patients: A Randomized, Double-Blind, Placebo-Controlled Trial

(2011) Luis Velázquez-Pérez et al.   NEUROCHEMICAL RESEARCH

Sleep Disorders in Spinocerebellar Ataxia Type 2 Patients

(2011) Luis Velázquez-Pérez et al.   Neurodegenerative Diseases

PolyQ Repeat Expansions in ATXN2 Associated with ALS Are CAA Interrupted Repeats

(2011) Zhenming Yu et al.   PLoS One

The Ataxin-2 protein is required for microRNA function and synapse-specific long-term olfactory habituation

(2011) C. McCann et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Heart rate variability in type 2 spinocerebellar ataxia

(2010) M.-B. Julio et al.   ACTA NEUROLOGICA SCANDINAVICA

Consensus and controversies in best practices for molecular genetic testing of spinocerebellar ataxias

(2010) Jorge Sequeiros et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Progression markers of Spinocerebellar Ataxia 2. A twenty years neurophysiological follow up study

(2010) Luis Velázquez-Perez et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond

(2010) Alexandra Durr   LANCET NEUROLOGY

Subtle rapid eye movement sleep abnormalities in presymptomatic spinocerebellar ataxia type 2 gene carriers

(2010) Roberto Rodríguez-Labrada et al.   MOVEMENT DISORDERS

Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS

(2010) Andrew C. Elden et al.   NATURE

Motor Nerve Hyperexcitability and Muscle Cramps in Machado-Joseph Disease

(2009) Kazuaki Kanai   ARCHIVES OF NEUROLOGY

Saccade velocity is reduced in presymptomatic spinocerebellar ataxia type 2

(2009) L. Velázquez-Pérez et al.   CLINICAL NEUROPHYSIOLOGY

SCA-LSVD: A repeat-oriented locus-specific variation database for genotype to phenotype correlations in spinocerebellar ataxias

(2009) Mohammed Faruq et al.   HUMAN MUTATION

Molecular epidemiology of spinocerebellar ataxias in Cuba: Insights into SCA2 founder effect in Holguin

(2009) Luis Velázquez Pérez et al.   NEUROSCIENCE LETTERS

Motor Decline in Clinically Presymptomatic Spinocerebellar Ataxia Type 2 Gene Carriers

(2009) Luis Velázquez-Perez et al.   PLoS One

Spinocerebellar Ataxia Type 2 Presenting With Cognitive Regression in Childhood

(2008) Melissa B. Ramocki et al.   JOURNAL OF CHILD NEUROLOGY

Autonomic nervous system abnormalities in spinocerebellar ataxia type 2: A cardiovascular neurophysiologic study

(2008) G. De Joanna et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Spinocerebellar ataxia types 1, 2, 3, and 6: Disease severity and nonataxia symptoms

(2008) T. Schmitz-Hubsch et al.   NEUROLOGY