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Friday, 04 April 2025

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Assuming ataxia is required, the following 49 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 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

    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 CNKE
    • Category: Articles

  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 CNKE
    • Category: Articles

  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 CNKE
    • Category: Articles

  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 CNKE
    • Category: Articles

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

  12. 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 CNKE
    • Category: Articles

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

    (e.g., hydrocephalus, thickened skull). Neurologic Exam: Severe cognitive, language, and motor delay without spasticity or ataxia. Prognosis: Rapid progression leading to severe disability or death, typically within two years. Infantile Form Onset:...

    • 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

    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 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

    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: Knowledge Maps
Results 1 - 20 of 49