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Saturday, 04 January 2025

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Editor

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Assuming ataxia is required, the following 43 results were found.

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

    Diseases Associated with Chorea Ataxia-Telangiectasia and Related Conditions ATX–ATM (Ataxia-Telangiectasia Mutated gene) A progressive condition involving cerebellar ataxia, oculomotor apraxia, immunodeficiency, and increased risk of malignancies....

    • 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

    genetic disorder. Clinical Manifestations Clinical abnormalities from nesprin-1 and nesprin-2 mutations include: Cerebellar ataxia Emery-Dreifuss muscular dystrophy Arthrogryposis Isolated cardiomyopathies (Puckelwartz et al., 2010) These distinct...

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

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

    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 (MTS):...

    • 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

    Ataxic 'cerebral palsy'. Any type of movement disorder in early childhood. 'Oculomotor apraxia' (saccadic impairment) ↑ in ataxia-telangiectasia, ataxia-oculomotor apraxia 2 (AOA2) and DGUOK deficiency (hepatocerebral form of mtDNA depletion) Amino...

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

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

    5–10 y May also present as newborn, adolescent, or adult Impaired intellect Behavioral problems Cortical blindness Deafness Ataxia Spasticity Motor deficits Adults: Adrenomyeloneuropathy Occasionally Hyperpigmentation and adrenocortical insufficiency...

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

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

    respiratory distress at birth. Pathogenesis: RNA toxicity through sequestration of RNA-binding proteins. Friedreich’s Ataxia Gene: FXN. Repeat: GAA (>66). Clinical Features: Ataxia, dysarthria, cardiomyopathy, diabetes. Pathogenesis: Impaired...

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

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

    gait disturbance, general regression. Optic atrophy Macrocephaly in infantile form Upper and lower motor neuron signs Ataxia Infrequent CSF protein elevated. Urine sulfatide increased. Enzyme deficiency in leukocytes and fibroblasts. Imaging: diffuse...

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

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

    deficiency (RTD): Associated with Brown-Vialetto-Van Laere syndrome, characterized by motor neuronopathy, sensory ataxia, and cranial neuropathy. Vitamin B3 (Niacin) Pellagra: Can present with the "three Ds" — dermatitis, diarrhea, and dementia....

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

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

    • Type: Tag
    • Author: Editor

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

    seizures: Appear early, with other types of seizures potentially presenting later. Disease progression: Slow, with ataxia, action tremor, and emotional lability. Patients experience a slow decline in intelligence. Influence of antiepileptic medications:...

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

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

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

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

    • Type: Tag
    • Author: Editor

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

    • Type: Tag
    • Author: Editor

  18. Investigations in suspected mitochondrial disordershttps://cnke.org/articles/231

    and respiratory impairment usually absent, more variable neurology (genes as in Leigh) Episodic, static or progressive ataxia ± other neurological deficits ± cerebellar lactate peak on H-MRS (POLG1, mtDNA depletion, ubiquinone deficiency). Chronic...

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

  19. Migrainehttps://cnke.org/articles/234

    kaleidoscopic patterns, micropsia, macropsia, metamorphopsia), attention loss, confusion, amnesia, agitation, aphasia, ataxia, dizziness, vertigo, paresthesia, or hemiparesis. Duration and Intensity Headache Duration: Can last from 60 minutes to 48...

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    • Category: Home

  20. Channelopathieshttps://cnke.org/articles/channelopathies

    Syndromes Familial Hemiplegic Migraine (FHM) Type 1: CACNA1A mutation Type 2: ATP1A2 mutation Type 3: SCN1A mutation Ataxia Syndromes Episodic Ataxia Type 1 Caused by KCNA1 (potassium channel mutation) Features: ataxia with myokymia Episodic Ataxia Type...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles
Results 1 - 20 of 43