• Home
  • Topics
  • New
  • Q&A
  • Quiz
  • About

Saturday, 12 April 2025

Main

  • Home
  • Topics
  • New
  • Q&A
  • Quiz
  • About

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".

Entering this not that into the search form will return results containing "this" and not "that".

Entering this or that into the search form will return results containing either "this" or "that".

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. 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

  2. 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

  3. Cerebrotendinous Xanthomatosis (CTX)https://cnke.org/articles/146

    Introduction Rare autosomal recessive lipid storage disease. Abnormal cholestanol accumulation in the nervous system and other organ systems. Clinical manifestations: Brain, tendons, eyes, arteries. Spectrum of presentations: Infantile diarrhea,...

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

  4. Opsoclonus Myoclonus Ataxia Syndromehttps://cnke.org/articles/330

    Recommendations for the Dosing and Monitoring of Immunotherapeutic Agents in the Treatment of OMAS: Steroid Treatment and Ivig Treatment of OMS in children Prompt treatment is generally considered important and should be initiated when a diagnosis of...

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

  5. Mitochondrial Disordershttps://cnke.org/articles/knowledge-maps/259

    Mitochondrial disorders are caused by mutations in mitochondrial DNA (mtDNA) or nuclear DNA (nDNA) that affect mitochondrial function. These conditions involve impaired energy production due to defects in the mitochondrial respiratory chain (oxidative...

    • Type: Article
    • Author: Editor CNKE
    • Category: Knowledge Maps

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

    DRPLA (dentatorubral-pallidoluysian atrophy) is a progressive neurologic disorder characterized by ataxia, cognitive decline, myoclonus, chorea, epilepsy, and psychiatric manifestations. Overview Hallmark features Ataxia Cognitive decline Myoclonus...

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

  7. Investigations in Rare Treatable Disordershttps://cnke.org/articles/289

    Investigations and Management of Rare Treatable Neurological Disorders 1. AR-GCH1 Deficiency Without Hyperphenylalaninaemia Presentation: Resembles cerebral palsy, oculogyric crises, tremulousness, bradykinesia. Key Investigations: Phenylalanine...

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

  8. Dravet syndromehttps://cnke.org/articles/180

    Severe myoclonic epilepsy in infancy (SME) was described by Charlotte Dravet in 1978. In the Revised ILAE classification of epilepsies, the SMEI is named “Dravet syndrome” because of the lack of myoclonic seizures in many patients and is considered...

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

  9. Biochemical investigations in Urinehttps://cnke.org/articles/167

    Urine biochemistry Test Indications Precautions Interpretation α-AASA (a-amino-adipic semialdehyde) Neonatal epileptic seizures (usually with suppression-burst), or later...

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

  10. Lafora diseasehttps://cnke.org/articles/259

    Lafora disease is a rare genetic disorder involving glycogen metabolism disorder. It is inherited by autosomal recessive pattern presenting as a progressive myoclonus epilepsy and neurologic deterioration beginning in adolescence. It is characterized...

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

  11. Dravet syndromehttps://cnke.org/articles/265

    Severe myoclonic epilepsy in infancy (SME) was described by Charlotte Dravet in 1978. In the Revised ILAE classification of epilepsies, the SMEI is named “Dravet syndrome” because of the lack of myoclonic seizures in many patients and is considered...

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

  12. Benign Paroxysmal Torticollis of Infancyhttps://cnke.org/articles/270

    Etymology and Definition The name "torticollis" comes from the Latin words "tortus" (twisted) and "collum" (neck). Torticollis typically involves the head being tilted to one side and rotated so that the chin points to the opposite side. It is a common...

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

  13. cherry-red-spothttps://cnke.org/?view=article&id=118:350&catid=15

    The Cherry Red Spot refers to the appearance of a red-tinted region at the center of the macula surrounded by retinal opacification, usually present due to the thickening and loss of transparency of the posterior pole of the retina. The differential...

    • Type: Article
    • Author: Editor CNKE
    • Category: Image of the Week

  14. The History of Rett Syndromehttps://cnke.org/historical-vignettes/162

    Rett syndrome, a rare neurodevelopmental disorder predominantly affecting females, is characterized by profound physical and cognitive impairments. It was first described in 1966 by Dr. Andreas Rett, an Austrian pediatrician whose tireless work has...

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

  15. Charcot–Marie–Tooth disease (CMT)https://cnke.org/articles/214

    Charcot–Marie–Tooth disease (CMT) refers to a group of genetically heterogeneous disorders affecting peripheral nerve function. Charcot–Marie–Tooth disease (CMT) Definition: Charcot–Marie–Tooth disease (CMT) refers to a group of genetically...

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

  16. Investigations - Urine Biochemistryhttps://cnke.org/articles/291

    Urine Biochemistry Test Indications Precautions Interpretation α-AASA (a-amino-adipic semialdehyde) Neonatal epileptic seizures (usually with suppression-burst), or later pyridoxine-responsive epilepsy No need to obtain urine before giving pyridoxine or...

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

  17. Posterior Fossa Syndrome (PFS)https://cnke.org/articles/248

    Definition and Overview Posterior Fossa Syndrome (PFS): A constellation of neurological and behavioral symptoms occurring in children following posterior fossa tumor resection. Incidence: Occurs in approximately 8% of children undergoing posterior...

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

  18. Paroxysmal Kinesigenic Dyskinesiashttps://cnke.org/articles/271

    and a new classification. Mov Disord 29: 1108–16. Jankovic J, Demirkiran M. Classification of paroxysmal dyskinesias and ataxias. Adv Neurol 2002;89:387–400. Kertesz A (1967) Paroxysmal kinesigenic choreoathetosis. Neurology 17: 680–90. Kure S. Atypical...

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

  19. PLA2G6-Associated Neurodegenerationhttps://cnke.org/articles/47

    Overview PLA2G6-associated neurodegeneration (PLAN), also referred to as NAD or PARK14, is caused by mutations in the gene encoding calcium-independent phospholipase A2 (PLA2G6) (Figs 19.6a and 19.6b). The disease can manifest as classic infantile...

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

  20. Genetic Epilepsy with Febrile Seizures Plus (GEFS+)https://cnke.org/articles/276

    Overview Spectrum of Seizure Disorders Varying severity Diagnosed in families with: Febrile seizures (triggered by high fever) Recurrent seizures (epilepsy) of other types, including afebrile seizures Seizure Types: Generalized seizures Partial...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles
Results 21 - 40 of 49