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Friday, 04 April 2025

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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 49 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 CNKE
    • Category: Articles

  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: Articles

  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: Articles

  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 CNKE
    • Category: Articles

  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 CNKE
    • Category: Articles

  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 CNKE
    • Category: Articles

  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 CNKE
    • Category: Articles

  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 CNKE
    • Category: Articles

  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. Vitamin responsive neurological conditionshttps://cnke.org/articles/knowledge-maps/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: Knowledge Maps

  12. 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 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 CNKE

  15. Inherited Ataxiashttps://cnke.org/topics/inherited-ataxias

    • Type: Tag
    • Author: Editor CNKE

  16. 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 CNKE
    • Category: Articles

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

    • Type: Tag
    • Author: Editor CNKE

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

    • Type: Tag
    • Author: Editor CNKE

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

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

  20. Channelopathieshttps://cnke.org/articles/knowledge-maps/196

    Channelopathies are a group of disorders caused by dysfunctions in ion channels, which are proteins embedded in cell membranes that regulate the flow of ions (such as sodium, potassium, calcium, and chloride) across the membrane. These ion channels are...

    • Type: Article
    • Author: Editor CNKE
    • Category: Knowledge Maps
Results 1 - 20 of 49