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1. Full Text Ataxia
by Burke, Georgina and Hammans, Simon
Medicine, ISSN 1357-3039, 2012, Volume 40, Issue 8, pp. 435 - 439
Abstract Ataxia is derived from a Greek word meaning ‘lack of order’ and can be defined as impairment of coordination in the absence of significant muscle... 
Internal Medicine | ataxia | multiple sclerosis | paraneoplastic | proprioception | spinocerebellar ataxia | cerebellum | Creutzfeldt–Jakob disease | Friedreich's | Creutzfeldt-Jakob disease
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2. Full Text Is multiple system atrophy with cerebellar ataxia (MSA-C) like spinocerebellar ataxia and multiple system atrophy with parkinsonism (MSA-P) like Parkinson's disease? - A saccade study on pathophysiology
by Terao, Yasuo and Fukuda, Hideki and Tokushige, Shinnichi and Inomata-Terada, Satomi and Yugeta, Akihiro and Hamada, Masashi and Ichikawa, Yaeko and Hanajima, Ritsuko and Ugawa, Yoshikazu
Clinical Neurophysiology, ISSN 1388-2457, 02/2016, Volume 127, Issue 2, pp. 1491 - 1502
Objective: Patients with multiple system atrophy (MSA) are classified into those mainly manifesting cerebellar ataxia (MSA-C) and those mainly manifesting... 
Cerebellum | Multiple system atrophy | Saccade | Basal ganglia | Parkinson's disease | Pathophysiology | DIFFERENTIAL-DIAGNOSIS | STRIATONIGRAL DEGENERATION | NEUROSCIENCES | EYE-MOVEMENTS | CLINICAL NEUROLOGY | FUNCTIONAL-PROPERTIES | SUPERIOR COLLICULUS | GABA-RELATED SUBSTANCES | MONKEY CAUDATE NEURONS | INHIBITORY CONTROL | CONSENSUS STATEMENT | Parkinsonian Disorders - physiopathology | Cerebellar Ataxia - epidemiology | Humans | Middle Aged | Parkinsonian Disorders - diagnosis | Parkinsonian Disorders - epidemiology | Spinocerebellar Ataxias - epidemiology | Male | Spinocerebellar Ataxias - physiopathology | Multiple System Atrophy - epidemiology | Cerebellar Ataxia - physiopathology | Spinocerebellar Ataxias - diagnosis | Female | Saccades - physiology | Aged | Multiple System Atrophy - diagnosis | Multiple System Atrophy - physiopathology | Cerebellar Ataxia - diagnosis | Atrophy | Medicine, Experimental | Medical research | Neurosciences | Spinocerebellar ataxia
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3. Full Text Investigating function and connectivity of morphometric findings — Exemplified on cerebellar atrophy in spinocerebellar ataxia 17 (SCA17)
by Reetz, Kathrin and Dogan, Imis and Rolfs, Arndt and Binkofski, Ferdinand and Schulz, Jörg B and Laird, Angela R and Fox, Peter T and Eickhoff, Simon B
NeuroImage, ISSN 1053-8119, 09/2012, Volume 62, Issue 3, pp. 1354 - 1366
Spinocerebellar ataxia type 17 (SCA17) is a rare autosomal dominant neurodegenerative disorder characterized by progressive cerebellar ataxia but also a broad... 
Cerebellum | Spinocerebellar ataxia 17 (SCA17) | Meta-analytic connectivity modeling (MACM) | Voxel-based morphometry (VBM) | HUMAN PARIETAL OPERCULUM | PRIMARY SOMATOSENSORY CORTEX | HUMAN BRAIN | DEFAULT MODE | INTERSUBJECT VARIABILITY | NEUROSCIENCES | NEUROIMAGING | PRIMARY MOTOR CORTEX | TATA-BINDING PROTEIN | COGNITIVE-AFFECTIVE SYNDROME | BASAL GANGLIA INVOLVEMENT | RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING | WORKING-MEMORY | Atrophy - physiopathology | Humans | Image Interpretation, Computer-Assisted | Adult | Female | Male | Spinocerebellar Ataxias - physiopathology | Cerebellum - physiopathology | Brain Mapping - methods | Models, Neurological | Neural Pathways - physiopathology | Ataxia | Spinocerebellar ataxia | Analysis | Investigations | Connectivity | Hypotheses | Nuclear magnetic resonance--NMR | Medical imaging | Neurodegeneration | Atrophy
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4. Full Text Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant ataxia among French and German kindreds
by Bauer, Peter and Stevanin, Giovanni and Beetz, Christian and Synofzik, Matthis and Schmitz-Hübsch, Tanja and Wüllner, Ullrich and Berthier, Eric and Ollagnon-Roman, Elisabeth and Riess, Olaf and Forlani, Sylvie and Mundwiller, Emeline and Durr, Alexandra and Schöls, Ludger and Brice, Alexis
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 11/2010, Volume 81, Issue 11, pp. 1229 - 1232
BackgroundAt least 28 loci have been linked to autosomal dominant spinocerebellar ataxia (ADCA). Causative genes have been cloned for 10 nucleotide repeat... 
GAMMA | SURGERY | GENE | PSYCHIATRY | FAMILIES | CLINICAL-FEATURES | MUTATIONS | CEREBELLAR ATAXIAS | CLINICAL NEUROLOGY | Gene Dosage - genetics | France - epidemiology | Prevalence | Humans | Protein-Serine-Threonine Kinases - genetics | Spinocerebellar Ataxias - epidemiology | Family Health | Male | Germany - epidemiology | Polymorphism, Genetic | Phenotype | Genes, Dominant | Pedigree | Female | Codon, Nonsense - genetics | Spinocerebellar Ataxias - genetics | Demographic aspects | Gene mutations | Spinocerebellar ataxia | Distribution | Genetic aspects | Research | Identification and classification
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5. Full Text 'Costa da Morte' ataxia is spinocerebellar ataxia 36: Clinical and genetic characterization
by García-Murias, María and Quintáns, Beatriz and Arias, Manuel and Seixas, Ana I and Cacheiro, Pilar and Tarrío, Rosa and Pardo, Julio and Millán, María J and Arias-Rivas, Susana and Blanco-Arias, Patricia and Dapena, Dolores and Moreira, Ramón and Rodríguez-Trelles, Francisco and Sequeiros, Jorge and Carracedo, Ángel and Silveira, Isabel and Sobrido, María J
Brain, ISSN 0006-8950, 2012, Volume 135, Issue 5, pp. 1423 - 1435
Spinocerebellar ataxia 36 has been recently described in Japanese families as a new type of spinocerebellar ataxia with motor neuron signs. It is caused by a... 
NOP56 | expansion mutation | founder effect | spinocerebellar ataxia | Galicia | DOMINANT CEREBELLAR ATAXIAS | INSTABILITY | DISEASE MUTATIONS | C9ORF72 | NEUROSCIENCES | CLINICAL NEUROLOGY | DENTATORUBROPALLIDOLUYSIAN ATROPHY | HAPLOTYPE RECONSTRUCTION | FAMILIES | EXPANSION | FREQUENCY | HEXANUCLEOTIDE REPEAT | Introns - genetics | Age Factors | Humans | Middle Aged | Family Health | Genotype | Male | Spinocerebellar Ataxias - physiopathology | Spinocerebellar Ataxias - pathology | Disease Progression | Magnetic Resonance Imaging | DNA Mutational Analysis | Spain - epidemiology | Aged, 80 and over | Brain - pathology | Trinucleotide Repeat Expansion - genetics | Female | Aged | Nuclear Proteins - genetics | Chromosomes, Human, Pair 20 - genetics | Genetic Linkage | Spinocerebellar Ataxias - genetics | Cerebellum | Haplotypes | Motor neurons | Tongue | Introns | Emigration | Amyotrophic lateral sclerosis | Hearing loss | Atrophy | Eye | Computed tomography | Magnetic resonance imaging | chromosome 20 | Mutation | Neurotransmission | Denervation | Original
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6. Full Text Cerebellar ataxias
by Manto, Mario and Marmolino, Daniele
Current Opinion in Neurology, ISSN 1350-7540, 08/2009, Volume 22, Issue 4, pp. 419 - 429
Purpose of review The term 'cerebellar ataxias' encompasses the various cerebellar disorders encountered during daily practice. Patients exhibit a cerebellar... 
Cerebellum | X-linked | Dysmetria | Recessive | Dominant | Ataxias | GENE-MUTATIONS | POPULATION | STRAND BREAK REPAIR | dominant | FRIEDREICHS-ATAXIA | ONSET CEREBELLAR | CEREBROTENDINOUS XANTHOMATOSIS | ataxias | NEUROSCIENCES | cerebellum | CLINICAL NEUROLOGY | MARINESCO-SJOGREN-SYNDROME | dysmetria | SPINOCEREBELLAR ATAXIAS | TREMOR/ATAXIA SYNDROME | SPECTRUM | recessive | Cerebellar Ataxia - classification | Humans | Cerebellar Ataxia - etiology | Cerebellum - physiopathology | Mutation | Cerebellar Ataxia - diagnosis | Cerebellum - pathology
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7. Full Text Ataxias
by Klockgether, Thomas
Parkinsonism and Related Disorders, ISSN 1353-8020, 2007, Volume 13, Issue 3, pp. S391 - S394
Abstract The ataxias are a group of progressive neurodegenerative disorders with ataxia as the leading symptom. Current classifications distinguish between... 
Neurology | Friedreich's ataxia (FRDA) | Spinocerebellar ataxia (SCA) | Alcoholic cerebellar degeneration | Paraneoplastic cerebellar degeneration (PCD) | paraneoplastic cerebellar degeneration (PCD) | spinocerebellar ataxia (SCA) | alcoholic cerebellar degeneration | GENE | FRIEDREICHS-ATAXIA | DISEASE | FOLLOW-UP | MUTATIONS | CLINICAL NEUROLOGY
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8. Full Text Cell biology of spinocerebellar ataxia
by Orr, Harry T
Journal of Cell Biology, ISSN 0021-9525, 04/2012, Volume 197, Issue 2, pp. 167 - 177
Ataxia is a neurological disorder characterized by loss of control of body movements. Spinocerebellar ataxia (SCA), previously known as autosomal dominant... 
NEURONAL INTRANUCLEAR INCLUSIONS | NUCLEAR-LOCALIZATION | TATA-BINDING PROTEIN | ANDROGEN RECEPTOR | CAENORHABDITIS-ELEGANS | MACHADO-JOSEPH-DISEASE | POLYGLUTAMINE-INDUCED NEURODEGENERATION | TRANSGENIC MOUSE MODEL | CALCIUM-CHANNEL | MEDIATES NEURODEGENERATION | CELL BIOLOGY | Trinucleotide Repeats | Amino Acid Sequence | Ataxin-1 | Protein Biosynthesis | Peptides - chemistry | Signal Transduction | Humans | RNA Splicing Factors | Nuclear Proteins - metabolism | Nerve Tissue Proteins - genetics | Trinucleotide Repeat Expansion | Nerve Tissue Proteins - metabolism | Ataxins | Nuclear Proteins - genetics | RNA-Binding Proteins - metabolism | Spinocerebellar Ataxias - genetics | Proteins | Ataxia | Movement | Mutation | Neurological disorders | Reviews
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9. Full Text Spinocerebellar ataxia: an update
by Sullivan, Roisin and Yau, Wai Yan and O’Connor, Emer and Houlden, Henry
Journal of Neurology, ISSN 0340-5354, 02/2019, Volume 266, Issue 2, pp. 533 - 544
Spinocerebellar ataxia (SCA) is a heterogeneous group of neurodegenerative ataxic disorders with autosomal dominant inheritance. We aim to provide an update on... 
Spinocerebellar ataxia | Molecular diagnosis | Next-generation sequencing | PURKINJE NEURONS | CAG TRINUCLEOTIDE REPEAT | GENETIC-ANALYSIS | HEREDITARY ATAXIA | CLINICAL-FEATURES | SENSORY NEUROPATHY | CLINICAL NEUROLOGY | SPASTIC PARAPLEGIA | MACHADO-JOSEPH-DISEASE | MOUSE MODEL | DOMINANT CEREBELLAR-ATAXIA | Mitochondria | Transcription | Trinucleotide repeats | Antisense oligonucleotides | Ataxia | Antisense RNA | Heredity | Ribonucleic acid--RNA | Autophagy | DNA repair | Phagocytosis | Neurological Update
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10. Full Text Polyglutamine spinocerebellar ataxias-from genes to potential treatments
by Paulson, Henry L and Shakkottai, Vikram G and Clark, H. Brent and Orr, Harry T
Nature Reviews Neuroscience, ISSN 1471-003X, 09/2017, Volume 18, Issue 10, pp. 613 - 626
The dominantly inherited spinocerebellar ataxias (SCAs) are a large and diverse group of neurodegenerative diseases. The most prevalent SCAs (SCA1, SCA2, SCA3,... 
NUCLEAR-LOCALIZATION | CAG REPEAT | OLIVOPONTOCEREBELLAR ATROPHY | MOUSE MODEL | DEGENERATIVE ATAXIA | EXPANDED ATAXIN-7 | DOMINANT CEREBELLAR-ATAXIA | NEUROSCIENCES | MEDIATES NEURODEGENERATION | TRANSGENIC MICE | DISEASE PROGRESSION | Peptides - physiology | Brain - physiopathology | Humans | Peptides - genetics | Spinocerebellar Ataxias - physiopathology | Nerve Tissue Proteins - genetics | Spinocerebellar Ataxias - diagnosis | Animals | Models, Genetic | Models, Neurological | Mutation | Disease Models, Animal | Spinocerebellar Ataxias - genetics | Care and treatment | Spinocerebellar ataxia | Genotype | Development and progression | Genetic aspects | Gene expression | Health aspects | Neurological diseases | Polyglutamine | Ataxin | Neurodegenerative diseases | Therapeutic applications | Trinucleotide repeats | Trinucleotide repeat diseases | Glutamine
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11. Full Text PNPLA6 mutations cause Boucher-Neuhäuser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum
by Synofzik, Matthis and Gonzalez, Michael A and Lourenco, Charles Marques and Coutelier, Marie and Haack, Tobias B and Rebelo, Adriana and Hannequin, Didier and Strom, Tim M and Prokisch, Holger and Kernstock, Christoph and Durr, Alexandra and Schöls, Ludger and Lima-Martínez, Marcos M and Farooq, Amjad and Schüle, Rebecca and Stevanin, Giovanni and Marques, Wilson and Züchner, Stephan
Brain, ISSN 0006-8950, 2014, Volume 137, Issue 1, pp. 69 - 77
Boucher-Neuhauser and Gordon Holmes syndromes are clinical syndromes defined by early-onset ataxia and hypogonadism plus chorioretinal dystrophy... 
retinal degeneration | genetics | hypogonadism | ataxia | hereditary spastic paraplegia | spastic ataxia | early onset ataxia | recessive ataxia | spasticity | LIPID ACYL HYDROLASE | FORM | NEUROSCIENCES | CLINICAL NEUROLOGY | DEGENERATION | NEUROPATHY TARGET ESTERASE | FRAMEWORK | RECESSIVE CEREBELLAR ATAXIAS | DNA-SEQUENCING DATA | GENOME ANALYSIS | HYPOGONADOTROPIC HYPOGONADISM | Spastic Paraplegia, Hereditary - genetics | Heredodegenerative Disorders, Nervous System - genetics | Humans | Middle Aged | Ataxia - etiology | Male | Phospholipases - genetics | Cerebellar Ataxia - physiopathology | Mutation - physiology | Adult | Female | Hypogonadism - physiopathology | Ataxia - genetics | Spinocerebellar Ataxias - genetics | Gonadotropin-Releasing Hormone - genetics | Models, Molecular | Spinocerebellar Ataxias - physiopathology | Heredodegenerative Disorders, Nervous System - physiopathology | Mutation - genetics | Retinal Dystrophies - physiopathology | DNA - genetics | Hypogonadism - genetics | Exome - genetics | Cerebellar Ataxia - genetics | Family | Gonadotropin-Releasing Hormone - deficiency | Retinal Dystrophies - genetics | Original
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12. Full Text Genetic Cerebellar Ataxias
by Storey, Elsdon
Seminars in Neurology, ISSN 0271-8235, 07/2014, Volume 34, Issue 3, pp. 280 - 292
Abstract This review broadly covers the commoner genetic ataxias, concentrating on their clinical features. Over the last two decades there has been a... 
episodic ataxias | recessive ataxias | fragile-X tremor ataxia syndrome | spinocerebellar ataxias | CAG TRINUCLEOTIDE REPEAT | FRAGILE-X | CLINICAL-FEATURES | MISSENSE MUTATIONS | CLINICAL NEUROLOGY | VITAMIN-E-DEFICIENCY | SPINOCEREBELLAR ATAXIA | TREMOR/ATAXIA SYNDROME | MACHADO-JOSEPH-DISEASE | POLYGLUTAMINE EXPANSIONS | FRIEDREICH ATAXIA | Fragile X Syndrome - genetics | Humans | Tremor - diagnosis | Spinocerebellar Ataxias - congenital | Mutation - genetics | Ataxia - diagnosis | Syndrome | Spinocerebellar Ataxias - diagnosis | Animals | Cerebellar Ataxia - genetics | Tremor - genetics | Muscle Spasticity - diagnosis | Ataxia - genetics | Cerebellar Ataxia - diagnosis | Muscle Spasticity - genetics | Fragile X Syndrome - diagnosis | Physician's Role | Spinocerebellar Ataxias - genetics
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