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1. 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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2. Full Text Brain pathology of spinocerebellar ataxias
by Seidel, Kay and Siswanto, Sonny and Brunt, Ewout R. P and den Dunnen, Wilfred and Korf, Horst-Werner and Rueb, Udo
Acta Neuropathologica, ISSN 0001-6322, 07/2012, Volume 124, Issue 1, pp. 1 - 21
The autosomal dominant cerebellar ataxias (ADCAs) represent a heterogeneous group of neurodegenerative diseases with progressive ataxia and cerebellar... 
Cerebellum | Pathology | Neurosciences | Medicine & Public Health | Neuropathology | Spinocerebellar ataxia | Polyglutamine diseases | ADCA | PALLIDOLUYSIAN ATROPHY DRPLA | CLINICAL-FEATURES | PATHOLOGY | NEUROSCIENCES | CLINICAL NEUROLOGY | NEURONAL INTRANUCLEAR INCLUSIONS | TATA-BINDING PROTEIN | GERMAN KINDREDS | MACHADO-JOSEPH-DISEASE | CAG REPEAT EXPANSION | DOMINANT CEREBELLAR-ATAXIA | ATTENUATED NUCLEAR SHRINKAGE | TRINUCLEOTIDE REPEAT | Brain - pathology | Spinocerebellar Ataxias - physiopathology | Spinocerebellar Ataxias - pathology | Humans | Spinocerebellar Ataxias - classification | Neuroimaging | Transcription factors | retinal degeneration | Polyglutamine | Neurodegenerative diseases | Cerebellar ataxia | Data processing | trinucleotide repeat diseases | Ataxin | Magnetic resonance imaging | Tau protein | Purkinje cells | Inclusion bodies | Quality control | Calcification | Axonal transport | polyglutamine diseases | Brain injury
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3. Full Text Antisense oligonucleotide therapy for spinocerebellar ataxia type 2
by Scoles, Daniel R and Meera, Pratap and Schneider, Matthew D and Paul, Sharan and Dansithong, Warunee and Figueroa, Karla P and Hung, Gene and Rigo, Frank and Bennett, C. Frank and Otis, Thomas S and Pulst, Stefan M
Nature, ISSN 0028-0836, 04/2017, Volume 544, Issue 7650, pp. 362 - 366
There are no disease-modifying treatments for adult human neurodegenerative diseases. Here we test RNA-targeted therapies(1) in two mouse models of... 
PATHOGENESIS | MULTIDISCIPLINARY SCIENCES | DISEASE | MOUSE | SCA2 | NEURODEGENERATION | METABOTROPIC GLUTAMATE RECEPTORS | MICE | MODEL | EXPRESSION | Humans | Male | Spinocerebellar Ataxias - therapy | RNA, Messenger - metabolism | Ataxin-2 - genetics | Action Potentials | RNA, Messenger - biosynthesis | Ataxin-2 - metabolism | Oligonucleotides, Antisense - therapeutic use | Female | Disease Models, Animal | Spinocerebellar Ataxias - genetics | Movement | Purkinje Cells - metabolism | RNA, Messenger - genetics | Gene Expression Regulation | Mice, Transgenic | Spinocerebellar Ataxias - physiopathology | Spinocerebellar Ataxias - pathology | Ataxin-2 - deficiency | Phenotype | Rotarod Performance Test | Animals | Mice | Purkinje Cells - pathology | Antisense nucleic acids | Care and treatment | Genetic aspects | Purkinje cells | Health aspects | Spinocerebellar ataxia | Proteins | Studies | Disease | Neurodegeneration | Rodents | Amyotrophic lateral sclerosis | Nervous system | Mutation | FDA approval | Drug dosages | Deoxyribonucleic acid--DNA
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4. 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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5. 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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6. Full Text Degenerative ataxias, from genes to therapies: The 2015 Cotzias Lecture
by Pulst, Stefan M
Neurology, ISSN 0028-3878, 06/2016, Volume 86, Issue 24, pp. 2284 - 2290
OBJECTIVE:To review progress in spinocerebellar ataxias (SCAs) and novel approaches to treatment. RESULTS AND CONCLUSIONS:Autosomal dominant ataxias are now... 
SPINOCEREBELLAR ATAXIAS | INTERACTS | SCA2 | MOUSE | EXPANSION | DOMINANT CEREBELLAR-ATAXIA | TRINUCLEOTIDE-REPEAT | ANTISENSE OLIGONUCLEOTIDES | TYPE-2 | EXPRESSION | CLINICAL NEUROLOGY | Spinocerebellar Ataxias - physiopathology | Spinocerebellar Ataxias - therapy | Animals | Humans | Spinocerebellar Ataxias - genetics | Special | 298
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7. Full Text Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis
by Schöls, Ludger and Bauer, Peter and Schmidt, Thorsten and Schulte, Thorsten and Riess, Olaf
Lancet Neurology, ISSN 1474-4422, 2004, Volume 3, Issue 5, pp. 291 - 304
Autosomal dominant cerebellar ataxias are hereditary neurodegenerative disorders that are known as spinocerebellar ataxias (SCA) in genetic nomenclature. In... 
NEURONAL INTRANUCLEAR INCLUSIONS | EXPANDED POLYGLUTAMINE | RESTLESS LEGS SYNDROME | CREB-BINDING PROTEIN | MACHADO-JOSEPH-DISEASE | SPINOCEREBELLAR-ATAXIA | DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY | TRINUCLEOTIDE REPEAT EXPANSION | CAG-REPEAT | HUNTINGTONS-DISEASE | CLINICAL NEUROLOGY | Neuropsychology - methods | Prevalence | Humans | Spinocerebellar Ataxias - classification | Spinocerebellar Ataxias - epidemiology | Genotype | Spinocerebellar Ataxias - physiopathology | Trinucleotide Repeats - genetics | Molecular Biology - methods | Incidence | Diagnostic Imaging - methods | Electrophysiology - methods | Cell Death | Models, Neurological | Disease Models, Animal | Genetic Linkage | Spinocerebellar Ataxias - genetics
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8. Full Text Overcoming the divide between ataxias and spastic paraplegias: Shared phenotypes, genes, and pathways
by Synofzik, Matthis and Schüle, Rebecca
Movement Disorders, ISSN 0885-3185, 03/2017, Volume 32, Issue 3, pp. 332 - 345
ABSTRACT Autosomal‐dominant spinocerebellar ataxias, autosomal‐recessive spinocerebellar ataxias, and hereditary spastic paraplegias have traditionally been... 
genetics | hereditary spastic paraplegia | pathway | recessive ataxia | molecular | classification | spinocerebellar ataxia | EARLY-ONSET ATAXIA | NEUROLOGICAL DISEASE | RECESSIVE CEREBELLAR-ATAXIA | CAG TRINUCLEOTIDE | AMYOTROPHIC-LATERAL-SCLEROSIS | CLINICAL NEUROLOGY | SPG7 MUTATIONS | SYNE1 ATAXIA | PICK TYPE-C | CYTOSCAPE PLUG-IN | TRINUCLEOTIDE REPEAT | Spastic Paraplegia, Hereditary - genetics | Humans | Spinocerebellar Ataxias - classification | Spastic Paraplegia, Hereditary - classification | Spinocerebellar Ataxias - physiopathology | Spastic Paraplegia, Hereditary - physiopathology | Spinocerebellar Ataxias - genetics | Phenotype | Genes | Genetic research | Genetic aspects | Paralysis | DNA binding proteins | Lipase | Transfer RNA
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9. Full Text The Spinocerebellar Ataxias
by Paulson, Henry L
Journal of Neuro-Ophthalmology, ISSN 1070-8022, 09/2009, Volume 29, Issue 3, pp. 227 - 237
Slowly progressive ataxia accompanied by cerebellar degeneration is often genetic in origin. The past 15 years have witnessed a revolution in our understanding... 
MICE LACKING FIBROBLAST-GROWTH-FACTOR-14 | NEURODEGENERATIVE DISEASE | PROTEIN | CEREBELLAR-ATAXIA | POLYGLUTAMINE DISEASES | MUTATION | EXPANSION | OPHTHALMOLOGY | MOLECULAR PATHOGENESIS | INHERITED ATAXIAS | CLINICAL-FEATURES | CLINICAL NEUROLOGY | Genetic Predisposition to Disease - genetics | Ocular Motility Disorders - pathology | Humans | Nerve Degeneration - physiopathology | Nerve Degeneration - genetics | Spinocerebellar Ataxias - physiopathology | Cerebellum - physiopathology | Spinocerebellar Ataxias - pathology | Mutation - genetics | Nerve Tissue Proteins - genetics | Nerve Degeneration - pathology | Ocular Motility Disorders - genetics | Cerebellum - pathology | Vision Disorders - physiopathology | Vision Disorders - genetics | Brain Stem - pathology | Brain Stem - physiopathology | Ocular Motility Disorders - physiopathology | Spinocerebellar Ataxias - genetics
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