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Saturday, 04 January 2025

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Assuming repeat is required, and expansions is required, the following 10 results were found.

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

    Hereditary ataxias are caused by repeat expansions in specific genes. Testing for repeat expansions is recommended before Next-Generation Sequencing (NGS) analysis. Key clinical features often include cerebellar ataxia and other systemic...

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

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

    Introduction to Repeat Expansions Definition: Repeat expansions refer to the abnormal increase in the number of tandem nucleotide repeats in specific regions of the genome. Examples: CAG, CGG, CTG, GAA repeats. Significance: These expansions can...

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

  3. Dentatorubral-Pallidoluysian Atrophy (DRPLA)https://cnke.org/articles/211

    Heterozygous abnormal CAG repeat expansion in the ATN1 gene Emerging Methods: Genome sequencing tools for nucleotide repeat expansions but has limitations May detect expanded repeat but not determine exact repeat number Pathogenic CAG repeat expansions...

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

  4. Progressive myoclonus epilepsy https://cnke.org/articles/258

    Introduction Progressive Myoclonus Epilepsy (PME) with onset between late childhood and late adolescence includes several conditions: Neuronal ceroid lipofuscinosis Type I sialidosis Myoclonic epilepsy with ragged red fibers Most common forms of PME in...

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

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

    54 years) Spinocerebellar Ataxias (SCAs) Most common ADCAs Several types (SCA1, SCA2, SCA3, etc.) Often due to CAG repeat expansions Fragile X-associated Tremor/Ataxia Syndrome (FXTAS) Gene: FMR1 (CGG repeat expansion) X-linked inheritance Late-onset...

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

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

    parkinsonism, dystonia, and neurodegeneration. Spinocerebellar Ataxias SCA2/ATXN2: Progressive ataxia with large CAG repeat expansions, leading to cognitive impairment in later stages. SCA17/TBP: Caused by mutations in the TATA-box binding protein,...

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

  7. Fragile X Syndromehttps://cnke.org/articles/578

    FXS is the most prevalent inherited cause of mild-to-severe intellectual disability and the most common monogenic cause of autism spectrum disorder. Overview Fragile X Syndrome (FXS), also known historically as Martin-Bell syndrome, is a non-Mendelian...

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

  8. The Journey of Discovery: Unraveling Fragile X Syndromehttps://cnke.org/historical-vignettes/the-journey-of-discovery-unraveling-fragile-x-syndrome

    Fragile X Syndrome, the most common inherited cause of intellectual disability and autism spectrum disorder, is now a well-recognized condition. However, its discovery and understanding were long journeys marked by scientific curiosity, serendipity,...

    • Type: Article
    • Author: Biju Hameed
    • Category: Historical Vignettes

  9. Investigations in Movement Disordershttps://cnke.org/articles/354

    Infancy (first 2 years of life) Neonatal Prader - Willi syndrome - hypokinesia and limb dystonia - fluorescent in situ hybridization/multiplex ligation-dependent probe amplification for deletion paternally inherited chromosome 15 Neonatal...

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

  10. Familial (Autosomal Dominant) Focal Epilepsieshttps://cnke.org/articles/357

    Overview: Temporal lobe epilepsy was traditionally considered an acquired condition. Causes include lesions such as: Hippocampal sclerosis Tumours Trauma Vascular malformations Malformations of cortical development Recent research has highlighted the...

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