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Saturday, 04 January 2025

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Editor

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Assuming spinocerebellar is required, and ataxias is required, the following 7 results were found.

  1. Cerebellar ataxias according to main clinical featureshttps://cnke.org/articles/183

    neurodegeneration, including movement disorders such as chorea, along with progressive neurological symptoms. Spinocerebellar Ataxias (SCAs) SCA2/ATXN2 (large CAG expansion) Spinocerebellar Ataxia Type 2 can involve chorea in the advanced stages of the...

    • Type: Article
    • Author: Editor
    • Category: Home

  2. Hereditary ataxias due to repeat expansionshttps://cnke.org/articles/186

    MRI findings can assist in the diagnosis by revealing characteristic patterns of atrophy. The spectrum of spinocerebellar ataxias (SCAs) varies widely in clinical features, onset age, and genetic causes. Repeat expansion size influences severity and...

    • Type: Article
    • Author: Editor CNKE
    • Category: Home

  3. Inherited Cerebellar Ataxias (ICAs)https://cnke.org/articles/184

    Vestibular Areflexia Syndrome (CANVAS) Gene: RFC1 (AAGGG repeat expansion) Onset: Usually adult (mean 54 years) Spinocerebellar Ataxias (SCAs) Most common ADCAs Several types (SCA1, SCA2, SCA3, etc.) Often due to CAG repeat expansions Fragile...

    • Type: Article
    • Author: Editor CNKE
    • Category: Home

  4. Repeat Expansionshttps://cnke.org/articles/187

    cardiomyopathy, diabetes. Pathogenesis: Impaired transcription due to repeat-induced heterochromatin formation. Spinocerebellar Ataxias (SCA) Multiple subtypes caused by expanded CAG repeats in different genes. Clinical Features: Progressive ataxia,...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles

  5. Biochemical investigations in Bloodhttps://cnke.org/articles/13

    Blood Biochemistry Test Indications Precautions Interpretation α-AASA Neonatal epileptic seizures (usually with burst-suppression) and any unexplained refractory epilepsy up...

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    • Author: Editor
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  6. Investigations in suspected mitochondrial disordershttps://cnke.org/articles/231

    Mitochondrial disorders - investigations Definitive investigations have become more complex and specialized. However, clinical clues can point towards a mitochondrial disorder and fairly simple tests support the diagnosis sufficiently to proceed to...

    • Type: Article
    • Author: Editor
    • Category: Home

  7. Investigations in Rare Treatable Disordershttps://cnke.org/articles/289

    Investigations and Management of Rare Treatable Neurological Disorders 1. AR-GCH1 Deficiency Without Hyperphenylalaninaemia Presentation: Resembles cerebral palsy, oculogyric crises, tremulousness, bradykinesia. Key Investigations: Phenylalanine...

    • Type: Article
    • Author: Editor
    • Category: Home
Results 1 - 7 of 7