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Ataxia 2s, Olivopontocerebellar Atrophy II, Spinocerebellar Ataxia 5, Spinocerebellar Ataxia 4, Spinocerebellar Atrophy 2s, Spinocerebellar Ataxia 7, Olivopontocerebellar Atrophy IV, Spinocerebellar Ataxia 6, History, Spinocerebellar Ataxia with Slow Eye Movements, Wadia-Swami, Cerebelloparenchymal Disorder I, Dominantly-Inherited Spinocerebellar, Ataxia, Schut-Haymaker Type, Schut-Haymaker Type OPCA, Type 2 Spinocerebellar Ataxia, Ataxia 1, Spinocerebellar Ataxia 1s, Ataxia 2, Spinocerebellar Ataxias, Ataxia 5, Ataxia 4, Ataxia 7, Ataxia 6, Atrophy IV, Atrophy I, Wadia Swami, Spinocerebellar, Wadia Swami Syndrome, Dominantly Inherited Spinocerebellar Ataxias, Spinocerebellar Atrophy 2, Natural., Atrophy 2, Autosomal Dominant Cerebellar Ataxia, Atrophy IIs, Olivopontocerebellar, Atrophy II, Type 1 Spinocerebellar Ataxia, Spinocerebellar Ataxia 4s, SCA1, with Sensory Axonal Neuropathy, Atrophy, Spinocerebellar Ataxia, Olivopontocerebellar Atrophy III, Spinocerebellar Atrophy I, Dominantly Inherited, Spinocerebellar Degeneration with Slow Eye Movements, Olivopontocerebellar Atrophy IIs, Cerebellar Degeneration with Slow Eye Movements, Atrophy III, Cerebelloparenchymal Disorder Is, Spinocerebellar Atrophy, Syndrome, Spinocerebellar Atrophy Is, Type 7 Spinocerebellar Ataxia, Dominantly-Inherited Spinocerebellar Ataxias, Atrophy 2s, Spinocerebellar Ataxia 6s, Olivopontocerebellar Atrophy I, Olivopontocerebellar Atrophy IIIs, Dominantly-Inherited, OPCA with Retinal Degeneration, OPCA with Macular Degeneration and External Ophthalmoplegia, Olivopontocerebellar Atrophy IVs, Type 6 Spinocerebellar Ataxia, Spinocerebellar Ataxia-2, Spinocerebellar Ataxia-1, Spinocerebellar Ataxia-4, Spinocerebellar Ataxia-6, Menzel Type OPCA, Spinocerebellar Ataxia-5, Spinocerebellar Ataxia-7, SCA1s, Wadia, Ataxias, Olivopontocerebellar Atrophy 2s, Spinocerebellar Ataxia 5s, Atrophy IVs, Menzel Type, Spinocerebellar Atrophy II, Swami Syndrome, Spinocerebellar Atrophy IIs, Type 5 Spinocerebellar Ataxia, Atrophies, spinocerebellar ataxia, Autosomal Dominant, Olivopontocerebellar Atrophy 2, Schut Haymaker Type OPCA, Wadia-Swami Syndrome, Olivopontocerebellar Atrophy, Spinocerebellar ataxia (disorder), Spinocerebellar Atrophies, Cuban Type, Spinocerebellar Ataxia Type 1, OPCA, Type 4 Spinocerebellar Ataxia, Holguin Type, Dominantly-Inherited Spinocerebellar Ataxia, Spinocerebellar Ataxia 7s, Spinocerebellar Ataxia Type 6, Spinocerebellar Ataxia Type 7, Spinocerebellar Ataxia Type 2, Spinocerebellar Ataxia Type 4, Olivopontocerebellar Atrophy Is, Spinocerebellar Ataxia Type 5, Spinocerebellar Ataxia 1, Spinocerebellar Ataxia 2, Type II<p>Inclusion Criteria <ol> <li>Age 6 years and above</li> <li>Presence of symptoms and signs of ataxia</li> <li>Molecular diagnosis of SCA 1, 2, 3, or 6 either in the participant or an affected family member</li> <li>Willingness to participate in the study and ability to give informed consent.</li> </ol> </p> <p>Exclusion Criteria <ol> <li>Known recessive, X-linked and mitochondrial ataxias </li> <li>Exclusion of SCA 1, 2, 3 and 6 by previous DNA testing</li> </ol> </p>https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001332<p> <ul> <li>Study Activated May 19, 2010</li> <li>Study Final Closed October 16, 2012</li> </ul> </p>Data Management - Jeffrey Krischer, PhD - University of South Florida, Tampa, FL, USAStudy Chair - Tetsuo Ashizawa, MD - University of Florida, Gainesville, FL, USAFunding Source - RC1NS068897 - National Institutes of Health, Bethesda, MD, USAdbGaPDeficiency of speech development, Type II Machado-Joseph Disease, dmBest1, Materials, Spinocerebellar Ataxia 5, Spinocerebellar Ataxia 4, Poor coordination, Activity, Spinocerebellar Ataxia 7, Spinocerebellar Ataxia 6, Joseph Disease, Laboratory, Wadia-Swami, Speech difficulties, Machado-Joseph Azorean, Cerebelloparenchymal Disorder I, sci, Schut-Haymaker Type, ALS13, DmelCG6264, Long Term, Schut-Haymaker Type OPCA, 13, Impaired speech development, Abnormal retropulsion test, Machado Joseph Disease Type IV, diseases, Wadia-swami syndrome, Atrophy I, Wadia Swami, HOW, How, ARB, Dominantly Inherited Spinocerebellar Ataxias, diseases and disorders, Atrophy 2, Joseph, Research Activity, CG17579, Laboratory Research, Effect, BEST1_HUMAN, l(3)j5D5, olivopontocerebellar atrophy 2, Ataxia 3s, Priorities, 24B, Progression, Type 1 Spinocerebellar Ataxia, SCA3, human disease, SCA1, MJD, SCA2, developmental field, Azorean (Machado-Joseph), Nigrospinodentatal, stru, l(3)S053606, CG10293, Machado Joseph Disease Type II, Type III Machado-Joseph Disease, genetic, l(3)j5B5, set, Type I Machado Joseph Disease, Cerebelloparenchymal Disorder Is, Azorean Ataxia, Type IV Machado Joseph Disease, Poor speech development, Azorean Disease (Machado-Joseph), Machado-Joseph Disease Type II, Speech delay, OPCA2, Spinocerebellar Atrophy Is, Exacerbation, Homo sapiens disease, Research Priority, "Azorean disease (disorder)" EXACT [SNOMEDCT_2005_07_31:91952008], Long-Term Effects, Machado-Joseph Disease Type IV, 0904/17, Olivopontocerebellar Atrophy I, CG6264, aberrant, amyotrophic lateral sclerosis, Dominantly-Inherited, familial, Disease Exacerbation, OPCA with Retinal Degeneration, Machado Joseph Disease, Longterm Effect, OPCA with Macular Degeneration and External Ophthalmoplegia, Olivopontocerebellar Atrophy IVs, Research Priorities, Language development deficit, future organ, olivopontocerebellar atrophy Holguin type, Cuban type, 3s, SCA1s, Delayed speech acquisition, Azorean Neurologic Disease, Olivopontocerebellar Atrophy 2s, Atrophy IVs, Menzel Type, Spinocerebellar Atrophy II, SZ1, Diseases, Genetic Materials, Swami Syndrome, TU15B, Spinocerebellar Atrophy IIs, Type 5 Spinocerebellar Ataxia, Genetic Material, Autosomal Dominant, Delayed speech, Olivopontocerebellar Atrophy 2, dBest1, Poor speech acquisition, Type IV Machado-Joseph Disease, Research and Development, Sca1b, Schut Haymaker Type OPCA, DmelCG17579, Azorean disease of the nervous system, Wadia-Swami Syndrome, Poor language development, Olivopontocerebellar Atrophy, Spinocerebellar Atrophies, susceptibility to, dbest1, Cuban Type, Spinocerebellar Ataxia Type 1, clone 38, Language delay, INSDC_feature:gene, Neurologic Disease, spinocerebellar atrophy 3, spinocerebellar atrophy 2, Autosomal dominant striatonigral degeneration, Activities, disease, Machado Joseph Disease Type I, Speech and language difficulties, Machado disease, Spinocerebellar Ataxia Type 6, Spinocerebellar Ataxia Type 7, Azorean Neurologic, Material, Spinocerebellar Ataxia Type 2, Spinocerebellar Ataxia Type 3, Spinocerebellar Ataxia Type 4, Spinocerebellar Ataxia Type 5, Delayed speech and language development, Machado-Joseph Azorean Disease, Machado-Joseph, AAF58455, anon-EST:Liang-2.39, Cistron, medical condition., inherited genetic, Type 3 Spinocerebellar Ataxia, Gruppe, Spinocerebellar Ataxia 2s, other disease, Spinocerebellar Atrophy IIIs, atypia, Olivopontocerebellar Atrophy II, Spinocerebellar Atrophy Type 3, Spinocerebellar Atrophy 2s, Machado-Joseph Disease Type III, Olivopontocerebellar Atrophy IV, Effects, Spinocerebellar Ataxia with Slow Eye Movements, Azorean Disease (Machado Joseph), P62, Type III Machado Joseph Disease, BEST1, Wadia swami syndrome, cerebellar Degeneration with slow eye movements, Gene, Dominantly-Inherited Spinocerebellar, Ataxia, anon-WO0118547.380, Delayed language development, Joseph Azorean Disease, Type 2 Spinocerebellar Ataxia, Ataxia 1, Spinocerebellar Ataxia 1s, Azorean, Machado-Joseph Disease Type I, Ataxia 3, organ field, Ataxia 2, anon-EST:Liang-38, Spinocerebellar Ataxias, Ataxia 5, Ataxia 4, Ataxia 7, III, Ataxia 6, Autosomal Dominant Striatonigral Degeneration, Atrophy IV, Spinocerebellar, Wadia Swami Syndrome, Clinical Progression, disease or disorder, Nervous System Azorean Disease, Spinocerebellar Atrophy 2, Machado-Joseph disease, Imbalance, field, atypical, Autosomal Dominant Cerebellar Ataxia, Cardiac Arrest, mAb sca1, Atrophy IIs, spinocerebellar Degeneration with slow eye movements, Olivopontocerebellar, Atrophy II, Phenomenography, spinocerebellar ataxia with slow eye movements, study, Nervous System, Spinocerebellar Ataxia 4s, with Sensory Axonal Neuropathy, FOCUS, l(3)s2612, Clinical, Genetic, Spinopontine atrophy, Research, Longterm, VMD2, Atrophy, Speech and language delay, Spinocerebellar Atrophy III, Spinocerebellar Ataxia, Long-Term, BMD, Olivopontocerebellar Atrophy III, Spinocerebellar Atrophy I, Dominantly Inherited, Genotypes, non-neoplastic, Spinocerebellar Ataxia 3s, Spinocerebellar Degeneration with Slow Eye Movements, Pierre Marie cerebellar ataxia (formerly), Olivopontocerebellar Atrophy IIs, Cerebellar Degeneration with Slow Eye Movements, Atrophy III, spinocerebellar ataxia Cuban type, Clinical Course, grupos, Spinocerebellar Atrophy, Syndrome, DmelCG10293, Type 7 Spinocerebellar Ataxia, disorder, SCA 2, Long-Term Effect, Development and Research, constitutitional genetic, Nigrospinodentatal Degenerations, Dominantly-Inherited Spinocerebellar Ataxias, KINDS, amyotrophic lateral sclerosis 13, RP50, vitelliform macular dystrophy 2 (Best disease, Atrophy 2s, Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia, Spinocerebellar Ataxia 6s, spinocerebellar ataxia type 2, Disease, Holguin type, grupo, Delayed speech development, Olivopontocerebellar Atrophy IIIs, clone 2.39, disorders, Type 6 Spinocerebellar Ataxia, medical condition, defective, Spinocerebellar Ataxia-2, Joseph Azorean, Spinocerebellar Ataxia-1, qkr, Spinocerebellar Ataxia-4, Spinocerebellar Ataxia-3, l(3)S090417, Cistrons, Spinocerebellar Ataxia-6, Menzel Type OPCA, Spinocerebellar Ataxia-5, Striatonigral Degeneration, Spinocerebellar Ataxia-7, group, Machado Joseph Azorean Disease, Wadia, Azorean neurologic disease, Priority, Ataxias, Spinocerebellar Ataxia 5s, Genogroup, KH93F, Long Term Effects, Research Activities, condition, rare (European definition), Atrophies, bestrophin), spinocerebellar ataxia, who, amyotrophic lateral sclerosis type 13, autosomal dominant cerebellar ataxia type I caused by mutation in ATXN2, Dbest, Machado Joseph Disease Type III, ensemble, best, Spinocerebellar ataxia (disorder), spinocerebellar atrophy type 3, AAA28880, Language delayed, Rest, ATXN2 autosomal dominant cerebellar ataxia type I, Azorean Disease, Who/How, Nigrospinodentatal Degeneration, OPCA, Degenerations, Degeneration, Type 4 Spinocerebellar Ataxia, Holguin Type, Longterm Effects, Impaired speech and language development, spinocerebellar ataxia 2, olivopontocerebellar atrophy, Genogroups, Dominantly-Inherited Spinocerebellar Ataxia, Spinocerebellar Ataxia 7s, Type II Machado Joseph Disease, FBpp0086969, Olivopontocerebellar Atrophy Is, FBpp0086968, Sca, SCA, Late-onset speech development, qkr[93F], Spinocerebellar Ataxia 1, Spinocerebellar Ataxia 3, Spinocerebellar Ataxia 2, Type I Machado-Joseph Disease, Type II, variable, hereditary, groupe, BEST, Severe, Atrophy IIIsfalseSpinocerebellar Ataxias Natural History<p>Spinocerebellar ataxias (SCA) are genetic neurological diseases that cause imbalance, poor coordination, and speech difficulties. There are different kinds of SCA and this study will focus on types 1, 2, 3, and 6 (SCA 1, SCA 2, SCA 3, also known as Machado-Joseph disease and SCA 6). The diseases are rare, slowly progressive, cause increasingly severe neurological difficulties and are variable across and within genotypes. The purpose of this research study is to bring together a group of experts in the field of SCA for the purpose of learning more about the disease.</p> <p>The research questions are: <ul> <li>How does the disease progress over time?</li> <li>What are the best ways to measure disease progression?</li> <li>Do some genes, other than the gene that is abnormal in the SCA disease, have any effect on the way the disease behaves?</li> </ul> </p>2019-11-122019-11-07phs001332Machado-Joseph Disease24225362