Focal dystonia as a presenting sign of spinocerebellar ataxia 17

No abstract is available for this paper.

• Publication year

  2004

• Venue

  Movement Disorders

• Publication date

  2004-02-01

• Fields of study

  Medicine

• Identifiers
  DOI 10.1002/mds.10600PMID 14978680
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Slowly progressive cerebellar ataxia and cervical dystonia: Clinical presentation of a new form of spinocerebellar ataxia?

  2003cited by this paper
• Phenotypical variability of expanded alleles in the TATA-binding protein gene

  2003cited by this paper
• Trinucleotide repeats in 202 families with ataxia: a small expanded (CAG)n allele at the SCA17 locus.

  2002cited by this paper
• Dystonia in spinocerebellar ataxia type 6

  2002cited by this paper
• Difference in disease-free survival curve and regional distribution according to subtype of spinocerebellar ataxia: a study of 1,286 Japanese patients.

  2002cited by this paper
• Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxia

  2001cited by this paper
• CAG repeat expansion in the TATA box-binding protein gene causes autosomal dominant cerebellar ataxia.

  2001cited by this paper
• SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein.

  2001cited by this paper
• The clinical and genetic characteristics of spinocerebellar ataxia type 7 (SCA 7) in three Black South African families

  2000cited by this paper
• Extrapyramidal motor signs in degenerative ataxias.

  2000cited by this paper
• A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: a new polyglutamine disease?

  1999cited by this paper
• Clinical features and genetic analysis of a Spanish family with spinocerebellar ataxia 6

  1999cited by this paper
• Clinicopathology of spinocerebellar degeneration: Its correlation to the unstable CAG repeat of the affected gene

  1997cited by this paper
• The CAG/Polyglutamine Tract Diseases: Gene Products and Molecular Pathogenesis

  1997cited by this paper
• Homozygous inheritance of the Machado‐Joseph disease gene

  1994cited by this paper
• "Cryptic" repeating triplets of purines and pyrimidines (cRRY(i)) are frequent and polymorphic: analysis of coding cRRY(i) in the proopiomelanocortin (POMC) and TATA-binding protein (TBP) genes.

  1993cited by this paper
• Parkinson's disease: a reduced ability to shift to a new grouping if not prompted or guided.

  1990cited by this paper
• Dystonia and cerebellar ataxia.

  1990cited by this paper
• Degenerative cerebellar ataxia and focal dystonia

  1988cited by this paper

• Quadrupedal locomotion in Uner Tan syndrome: A neurological viewpoint

  2024cites this paper
• Hyperbaric Oxygen Therapy Attenuated the Motor Coordination and Cognitive Impairment of Polyglutamine Spinocerebellar Ataxia SCA17 Mice

  2023cites this paper
• Case Report: Bilateral globus pallidum internus DBS for treating tremor and dystonia in spinocerebellar ataxia 17: a thirteen-year follow-up

  2023cites this paper
• Unraveling movement disorders in spinocerebellar ataxia

  2022cites this paper
• Genotype–Phenotype Correlations for ATX‐TBP (SCA17): MDSGene Systematic Review

  2022cites this paper
• Autosomal Dominant Spinocerebellar Ataxias and Episodic Ataxias

  2021cites this paper
• Essential Tremor Within the Broader Context of Other Forms of Cerebellar Degeneration

  2020cites this paper
• Unravelling the behavioural and molecular hallmarks of Spinocerebellar Ataxia type 17 (SCA17). Studies on a transgenic rat model

  2020cites this paper
• Wissenswertes zu Dystonien

  2020cites this paper
• Early Onset Ataxia with Comorbid Dystonia: Clinical, Anatomical and Biological Pathway Analysis Expose Shared Pathophysiology

  2020cites this paper
• Impaired Saccade Adaptation in Tremor-Dominant Cervical Dystonia—Evidence for Maladaptive Cerebellum

  2020cites this paper
• Essential tremor-plus: a controversial new concept.

  2019cites this paper
• Head tremor at disease onset: an ataxic phenotype of cervical dystonia

  2019cites this paper
• Dystonia: diagnosis and management

  2018cites this paper
• PET Molecular Imaging in Familial Parkinson's Disease.

  2018cites this paper
• Recent advances in understanding and managing dystonia

  2018cites this paper
• The cerebellum and dystonia.

  2018cites this paper
• Dystonia and ataxia progression in spinocerebellar ataxias.

  2017cites this paper
• Update on the Genetics of Dystonia

  2017cites this paper
• Pearls & Oy-sters: Spinocerebellar ataxia type 3 presenting with cervical dystonia without ataxia

  2016cites this paper
• Current Opinions and Areas of Consensus on the Role of the Cerebellum in Dystonia

  2016cites this paper
• Non-Ataxic Presenting Symptoms of Dominant Ataxias

  2016cites this paper
• The role of cerebellum in patients with late onset cervical/segmental dystonia?--evidence from the clinic.

  2015cites this paper
• Dystonia: Phenotypes and Genetics

  2015cites this paper
• Genetics and Clinical Features of Inherited Ataxias

  2015cites this paper
• Dystonia and cerebellar degeneration in the leaner mouse mutant.

  2015cites this paper
• Polyglutamine (PolyQ) Diseases: Molecular pathology to treatment

  2015cites this paper
• Polyglutamine (PolyQ) Diseases: Genetics to Treatments

  2014cites this paper
• Primary dystonias and genetic disorders with dystonia as clinical feature of the disease.

  2014cites this paper
• Autosomal Dominant Spinocerebellar Ataxias and Episodic Ataxias

  2013cites this paper
• Assessment of patients with isolated or combined dystonia: An update on dystonia syndromes

  2013cites this paper
• Magnetic Resonance Imaging in Movement Disorders: Ataxia

  2013cites this paper
• Genetic evaluation in hereditary dystonia

  2012cites this paper
• Investigating function and connectivity of morphometric findings - Exemplified on cerebellar atrophy in spinocerebellar ataxia 17 (SCA17)

  2012cites this paper
• The genetics of dystonias.

  2012cites this paper
• Movement disorders in spinocerebellar ataxias

  2011cites this paper
• Neuroprotective effects of granulocyte‐colony stimulating factor in a novel transgenic mouse model of SCA17

  2011cites this paper
• Adult-onset dystonia.

  2011cites this paper
• The functional neuroanatomy of dystonia.

  2011cites this paper
• Chapter 12 – Dystonia: Phenomenology, classification, etiology, pathology, biochemistry, and genetics

  2011cites this paper
• Transcranial sonography in ataxia.

  2010cites this paper
• The role of genes in causing dystonia

  2010cites this paper
• Expansion of the phenotypic spectrum of SCA14 caused by the Gly128Asp mutation in PRKCG.

  2009cites this paper
• Spinocerebellar ataxias.

  2009cites this paper
• Structural Changes Associated with Progression of Motor Deficits in Spinocerebellar Ataxia 17

  2009cites this paper
• Spinocerebellar ataxia type 17 is caused by mutations in the TATA-box binding protein

  2008cites this paper
• Cervical dystonia: etiology and pathophysiology.

  2008cites this paper
• Epidemiology, clinical presentation, and diagnosis of cervical dystonia.

  2008cites this paper
• Disorders of the Cerebellum, Including the Degenerative Ataxias

  2008cites this paper
• Spinocerebellar ataxia 17 (SCA17) and Huntington’s disease-like 4 (HDL4)

  2008cites this paper
• Une crampe de l’écrivain associée à une ataxie spinocérébelleuse de type 7

  2007cites this paper
• Nucleocytoplasmic trafficking and transcription effects of huntingtin in Huntington's disease.

  2007cites this paper
• Chapter 4 Clinical and Genetic Aspects of Spinocerebellar Ataxias with Emphasis on Polyglutamine Expansions

  2007cites this paper
• Polyglutamine Expansion Diseases – the Case of Machado-Joseph Disease

  2007cites this paper
• Eye movement abnormalities in spinocerebellar ataxia type 17 (SCA17)

  2007cites this paper
• Cervical Dystonia

  2007cites this paper
• [Writer's cramp secondary to spinocerebellar ataxia type 7].

  2007cites this paper
• Apomorphine in the treatment of Parkinson's disease

  2007cites this paper
• Canadian Association of Neurosciences Review: Polyglutamine Expansion Neurodegenerative Diseases

  2006cites this paper
• Morphological basis for the spectrum of clinical deficits in spinocerebellar ataxia 17 (SCA17).

  2006influential citation
• Genetic Evaluation in Primary Dystonia

  2006cites this paper
• Predominant dystonia with marked cerebellar atrophy

  2006cites this paper
• Spinocerebellar Ataxia 17 and Huntington's Disease-like 4

  2006cites this paper
• TATA-binding protein in neurodegenerative disease.

  2005cites this paper
• Movement disorders: Classifications

  2005cites this paper
• Spinocerebellar ataxia type 17: Report of a family with reduced penetrance of an unstable Gln49 TBP allele, haplotype analysis supporting a founder effect for unstable alleles and comparative analysis of SCA17 genotypes

  2005cites this paper
• Paraneoplastic chorea with leukoencephalopathy presenting with obsessive–compulsive and behavioral disorder

  2005cites this paper
• Spinocerebellar ataxia type 17: Extension of phenotype with putaminal rim hyperintensity on magnetic resonance imaging

  2005cites this paper
• Small de novo duplication in the repeat region of the TATA‐box‐binding protein gene manifest with a phenotype similar to variant Creutzfeldt‐Jakob disease

  2004cites this paper
• Dystonia

  1996cites this paper