Cerebellar ataxias: β-III spectrin's interactions suggest common pathogenic pathways

De novopoint mutations in patients diagnosed with ataxic cerebral palsy

(2015) Ricardo Parolin Schnekenberg et al.   BRAIN

SCA27 is a cause of early-onset ataxia and developmental delay

(2015) Marc Planes et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Intracellular FGF14 (iFGF14) Is Required for Spontaneous and Evoked Firing in Cerebellar Purkinje Neurons and for Motor Coordination and Balance

(2015) M. K. Bosch et al.   JOURNAL OF NEUROSCIENCE

A novel frameshift mutation in FGF14 causes an autosomal dominant episodic ataxia

(2015) Karine Choquet et al.   NEUROGENETICS

Decreased Expression of Glutamate Transporter GLAST in Bergmann Glia Is Associated with the Loss of Purkinje Neurons in the Spinocerebellar Ataxia Type 1

(2014) Marija Cvetanovic   CEREBELLUM

 -III spectrin underpins ankyrin R function in Purkinje cell dendritic trees: protein complex critical for sodium channel activity is impaired by SCA5-associated mutations

(2014) Y. L. Clarkson et al.   HUMAN MOLECULAR GENETICS

Purkinje neuron Ca2+ influx reduction rescues ataxia in SCA28 model

(2014) Francesca Maltecca et al.   JOURNAL OF CLINICAL INVESTIGATION

A Japanese SCA5 family with a novel three-nucleotide in-frame deletion mutation in the SPTBN2 gene: a clinical and genetic study

(2014) Ying Wang et al.   JOURNAL OF HUMAN GENETICS

A novel missense mutation inCCDC88Cactivates the JNK pathway and causes a dominant form of spinocerebellar ataxia

(2014) Ho Tsoi et al.   JOURNAL OF MEDICAL GENETICS

Mutant  -III Spectrin Causes mGluR1  Mislocalization and Functional Deficits in a Mouse Model of Spinocerebellar Ataxia Type 5

(2014) K. R. Armbrust et al.   JOURNAL OF NEUROSCIENCE

The Global Epidemiology of Hereditary Ataxia and Spastic Paraplegia: A Systematic Review of Prevalence Studies

(2014) Luis Ruano et al.   NEUROEPIDEMIOLOGY

Spinocerebellar ataxia 35: Novel mutations in TGM6 with clinical and genetic characterization

(2014) Y.-C. Guo et al.   NEUROLOGY

Glutamatergic regulation prevents hippocampal-dependent age-related cognitive decline through dendritic spine clustering

(2014) Ana C. Pereira et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

FGF14 modulates resurgent sodium current in mouse cerebellar Purkinje neurons

(2014) Haidun Yan et al.   eLife

A Novel Frameshift Mutation in the AFG3L2 Gene in a Patient with Spinocerebellar Ataxia

(2013) Zuzana Musova et al.   CEREBELLUM

Mutant Ataxin-3 with an Abnormally Expanded Polyglutamine Chain Disrupts Dendritic Development and Metabotropic Glutamate Receptor Signaling in Mouse Cerebellar Purkinje Cells

(2013) Ayumu Konno et al.   CEREBELLUM

Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations

(2013) Solaf M Elsayed et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A new variable phenotype in spinocerebellar ataxia 27 (SCA 27) caused by a deletion in the FGF14 gene

(2013) J.A. Coebergh et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Riluzole Partially Rescues Age-Associated, but not LPS-Induced, Loss of Glutamate Transporters and Spatial Memory

(2013) Holly M. Brothers et al.   Journal of Neuroimmune Pharmacology

Identification and characterization of novel PDYN mutations in dominant cerebellar ataxia cases

(2013) Justyna Jezierska et al.   JOURNAL OF NEUROLOGY

Kv3.3 channels harbouring a mutation of spinocerebellar ataxia type 13 alter excitability and induce cell death in cultured cerebellar Purkinje cells

(2013) Tomohiko Irie et al.   JOURNAL OF PHYSIOLOGY-LONDON

Mutations in potassium channelkcnd3cause spinocerebellar ataxia type 19

(2012) Anna Duarri et al.   ANNALS OF NEUROLOGY

Mutations inKCND3cause spinocerebellar ataxia type 22

(2012) Yi-Chung Lee et al.   ANNALS OF NEUROLOGY

Genome-wide mRNA sequencing of a single canine cerebellar cortical degeneration case leads to the identification of a disease associated SPTBN2 mutation

(2012) Oliver P Forman et al.   BMC GENETICS

The Spinocerebellar Ataxia-Associated Gene Tau Tubulin Kinase 2 Controls the Initiation of Ciliogenesis

(2012) Sarah C. Goetz et al.   CELL

A Family with Spinocerebellar Ataxia Type 5 Found to Have a Novel Missense Mutation within a SPTBN2 Spectrin Repeat

(2012) Ellen Cho et al.   CEREBELLUM

A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insult

(2012) K. E. Hekman et al.   HUMAN MOLECULAR GENETICS

Changes in Purkinje cell firing and gene expression precede behavioral pathology in a mouse model of SCA2

(2012) S. T. Hansen et al.   HUMAN MOLECULAR GENETICS

Case of Infantile Onset Spinocerebellar Ataxia Type 5

(2012) Francois-Dominique Jacob et al.   JOURNAL OF CHILD NEUROLOGY

Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

(2012) Lijia Huang et al.   Orphanet Journal of Rare Diseases

Age-Related Intraneuronal Elevation of αII-Spectrin Breakdown Product SBDP120 in Rodent Forebrain Accelerates in 3×Tg-AD Mice

(2012) Yan Cai et al.   PLoS One

Recessive Mutations in SPTBN2 Implicate β-III Spectrin in Both Cognitive and Motor Development

(2012) Stefano Lise et al.   PLoS Genetics

Expansion of Intronic GGCCTG Hexanucleotide Repeat in NOP56 Causes SCA36, a Type of Spinocerebellar Ataxia Accompanied by Motor Neuron Involvement

(2011) Hatasu Kobayashi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

 -III Spectrin Is Critical for Development of Purkinje Cell Dendritic Tree and Spine Morphogenesis

(2011) Y. Gao et al.   JOURNAL OF NEUROSCIENCE

Aminopyridines Correct Early Dysfunction and Delay Neurodegeneration in a Mouse Model of Spinocerebellar Ataxia Type 1

(2011) R. Hourez et al.   JOURNAL OF NEUROSCIENCE

Early Changes in Cerebellar Physiology Accompany Motor Dysfunction in the Polyglutamine Disease Spinocerebellar Ataxia Type 3

(2011) V. G. Shakkottai et al.   JOURNAL OF NEUROSCIENCE

Increased Immunoreactivities of Cleaved αII-Spectrin and Cleaved Caspase-3 in the Aged Dog Spinal Cord

(2011) In Koo Hwang et al.   NEUROCHEMICAL RESEARCH

Altered Cerebellar-Cerebral Functional Connectivity in Geriatric Depression

(2011) Emmanuel Alalade et al.   PLoS One

Reduction in glutamate uptake is associated with extrasynaptic NMDA and metabotropic glutamate receptor activation at the hippocampal CA1 synapse of aged rats

(2010) Brigitte Potier et al.   AGING CELL

Prodynorphin Mutations Cause the Neurodegenerative Disorder Spinocerebellar Ataxia Type 23

(2010) Georgy Bakalkin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Development of an anatomical technique for visualizing the mode of climbing fiber innervation in Purkinje cells and its application to mutant mice lacking GluRδ2 and Cav2.1

(2010) Taisuke Miyazaki et al.   ANATOMICAL SCIENCE INTERNATIONAL

TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing

(2010) Jun Ling Wang et al.   BRAIN

 -III spectrin mutation L253P associated with spinocerebellar ataxia type 5 interferes with binding to Arp1 and protein trafficking from the Golgi

(2010) Y. L. Clarkson et al.   HUMAN MOLECULAR GENETICS

Spectrin mutations that cause spinocerebellar ataxia type 5 impair axonal transport and induce neurodegeneration inDrosophila

(2010) Damaris N. Lorenzo et al.   JOURNAL OF CELL BIOLOGY

Loss of  -III Spectrin Leads to Purkinje Cell Dysfunction Recapitulating the Behavior and Neuropathology of Spinocerebellar Ataxia Type 5 in Humans

(2010) E. M. Perkins et al.   JOURNAL OF NEUROSCIENCE

Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28

(2010) Daniela Di Bella et al.   NATURE GENETICS

Targeted deletion of  III spectrin impairs synaptogenesis and generates ataxic and seizure phenotypes

(2010) M. C. Stankewich et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Spinocerebellar Ataxia Type 31 Is Associated with “Inserted” Penta-Nucleotide Repeats Containing (TGGAA)n

(2009) Nozomu Sato et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Episodic Ataxia Associated With EAAT1 Mutation C186S Affecting Glutamate Reuptake

(2009) Boukje de Vries et al.   ARCHIVES OF NEUROLOGY

The cerebellum and dyslexia

(2009) Catherine J. Stoodley et al.   CORTEX

Haploinsufficiency of AFG3L2, the Gene Responsible for Spinocerebellar Ataxia Type 28, Causes Mitochondria-Mediated Purkinje Cell Dark Degeneration

(2009) F. Maltecca et al.   JOURNAL OF NEUROSCIENCE

The Role of the Cerebellum in Schizophrenia

(2008) Nancy C. Andreasen et al.   BIOLOGICAL PSYCHIATRY

The Cerebellum, Cerebellar Disorders, and Cerebellar Research—Two Centuries of Discoveries

(2008) Mario Manto   CEREBELLUM

Cerebellar Purkinje Cells are Reduced in a Subpopulation of Autistic Brains: A Stereological Experiment Using Calbindin-D28k

(2008) Elizabeth R. Whitney et al.   CEREBELLUM

Purkinje-Cell-Restricted Restoration of Kv3.3 Function Restores Complex Spikes and Rescues Motor Coordination in Kcnc3 Mutants

(2008) E. C. Hurlock et al.   JOURNAL OF NEUROSCIENCE

Mutant γPKC found in spinocerebellar ataxia type 14 induces aggregate-independent maldevelopment of dendrites in primary cultured Purkinje cells

(2008) Takahiro Seki et al.   NEUROBIOLOGY OF DISEASE

FGF14 regulates the intrinsic excitability of cerebellar Purkinje neurons

(2008) Vikram G. Shakkottai et al.   NEUROBIOLOGY OF DISEASE