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Tuesday, 07 January 2025

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Editor

Here are a few examples of how you can use the search feature:

Entering this and that into the search form will return results containing both "this" and "that".

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Search results can also be filtered using a variety of criteria. Select one or more filters below to get started.

Assuming ataxias is required, the following 47 results were found.

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

    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 disease, along with...

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

  2. 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

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

    significant disability Genetic basis: Over 100 new entities described in the past 25 years, with up to 500 genes related to ataxias Diagnosis and Initial Approach Patient Assessment Collect detailed family medical history (three generations minimum)...

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

  4. Ataxias: Differential Diagnosishttps://cnke.org/articles/185

    Acute Ataxias Vascular Disorders Cerebellar Ischemia: Reduced blood flow to the cerebellum leading to infarction. Cerebellar Hemorrhage: Bleeding within the cerebellum, often associated with hypertension or anticoagulation therapy. Medications and...

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

  5. Nesprinopathieshttps://cnke.org/articles/318

    Definition and Cause Nuclear envelopathies are diseases resulting from mutations in genes encoding parts of the inner nuclear membrane, nuclear lamina, and outer nuclear membrane. Key components include Emerin, MAN1, LAP2, LBR, Lamins A and C, Lamins...

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

  6. Measures for Hypertonia, Ataxia, and Ticshttps://cnke.org/articles/198

    List of various measures and scales for the assessment of hypertonia, ataxia and tics General Hypertonia Assessment Tools Hypertonia Assessment Tool (HAT): Differentiates between spasticity, dystonia, and rigidity in children. Modified Tardieu Scale...

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

  7. Ataxia Telangiectasia (AT)https://cnke.org/articles/151

    Introduction Definition: Ataxia Telangiectasia (AT) is a rare neurocutaneous disorder caused by biallelic pathogenic variants in the ATM gene. Core Manifestations: Cerebellar ataxia in early toddler years. Oculocutaneous telangiectasias in school-aged...

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

  8. 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...

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

  9. CNS Degenerative Disorders of Childhoodhttps://cnke.org/articles/315

    Disease Enzyme Defect and Genetics Onset Early Manifestations Vision and Hearing Motor System Seizures Laboratory and Tissue Studies Course Adrenoleukodystrophy and variants (peroxisomal disease) X-linked Xq28 Neonatal form: AR Acyl-CoA synthetase 5–10...

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

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

    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, dysarthria, and...

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

  11. CNS Degenerative Disorders in Infancyhttps://cnke.org/articles/314

    Disease Enzyme Defect and Genetics Onset Early Manifestations Vision and Hearing Somatic Findings Motor Findings Seizures Labs Clinical Course White matter Globoid (Krabbe) leukodystrophy Recessive galactocerebroside β-galactosidase deficiency....

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

  12. Vitamin responsive neurological conditionshttps://cnke.org/articles/201

    Vitamin-responsive conditions in child neurology, categorized by the vitamin involved. Vitamin A Vitamin A deficiency: Can cause vision problems, including night blindness and xerophthalmia. Vitamin A toxicity: Can lead to headaches, dizziness, nausea,...

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

  13. Alexander Diseasehttps://cnke.org/articles/253

    Alexander disease is a rare neurodegenerative disorder caused by mutations in the glial fibrillary acidic protein, a type III intermediate filament protein expressed in astrocytes. Introduction Definition: Alexander disease is a progressive disorder of...

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

  14. Cerebellar Ataxiashttps://cnke.org/topics/cerebellar-ataxias

    • Type: Tag
    • Author: Editor

  15. 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

  16. Ataxia Telangiectasiahttps://cnke.org/component/communityquiz/quiz/ataxia-telangiectasia?catid=18&Itemid=101

    • Type: Quiz
    • Author: Editor
    • Category: Clinical Topics

  17. Opsoclonus Myoclonus Ataxia syndromehttps://cnke.org/topics/opsoclonus-myoclonus-ataxia-syndrome

    • Type: Tag
    • Author: Editor

  18. Ataxia Telangiectasiahttps://cnke.org/topics/ataxia-telangiectasia

    • Type: Tag
    • Author: Editor

  19. Investigations in suspected mitochondrial disordershttps://cnke.org/articles/34

    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 CNKE
    • Category: Articles

  20. Migrainehttps://cnke.org/articles/37

    Overview Migraines are severe, often bilateral, throbbing headaches commonly located in the temples or frontal regions of the head. They affect different age groups with varying prevalence rates: 2-5% in preschool children, 10% in school-aged children,...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles
Results 1 - 20 of 47