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Thursday, 09 January 2025

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Editor

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Assuming loss is required, the following 62 results were found.

  1. Comparitive genomic hybridization (CGH) https://cnke.org/articles/288

    2006]. Thus single-nucleotide polymorphisms help in linkage analysis studies adn also allow detection of copy-neutral loss of heterozygosity correlated with uniparental disomy [Altug-Teber 2005] and consanguinity [DeLucca 1991] Combining the information...

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

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

    biotinidase activity assay. Treatment: Biotin. 4. Biotin-Responsive Basal Ganglia Disease Presentation: Rapid motor skill loss, quadriparesis, seizures, akinetic mutism. Key Investigations: Brain MRI: Caudate and putamen necrosis. Mutation in SLC19A3...

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

  3. The First Description of Tay-Sachs Disease by Warren Tay, 1881https://cnke.org/historical-vignettes/117

    work. Sachs provided a comprehensive description of the disease's clinical features, including the progressive weakness, loss of motor skills, and severe neurological deterioration observed in affected children. He also identified the hereditary nature...

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

  4. Familial (Autosomal Dominant) Focal Epilepsieshttps://cnke.org/articles/357

    in a common overlapping region of 3-cM at 10q24 (LGI1/Epitempin gene). LGI1 mutations cause protein truncation, leading to loss of function. LFTLE is genetically heterogeneous; LGI2, LGI3, or LGI4 mutations do not account for all cases. Diagnostic...

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

  5. MED12L Variant and Its Role in Human Diseasehttps://cnke.org/articles/360

    on the fibroblasts of two French patients showed transcriptional errors, which suggests that these MED12L changes cause a loss of function (haploinsufficiency) that affects gene transcription. RNA Synthesis Recovery Researchers looked at how quickly RNA...

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

  6. Opitz-Kaveggia Syndrome (OKS)https://cnke.org/articles/361

    and halluces. Hypotonia, constipation, partial agenesis of the corpus callosum. Some patients exhibit sensorineural hearing loss, joint laxity evolving into joint contractures. Hyperactivity and talkativeness are common. History Initially described as...

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

  7. Mucolipidoses and Oligosaccharidoseshttps://cnke.org/articles/469

    Oligosaccharidoses α-Mannosidosis: Gene: MAN2B1 Encoded Protein: α-mannosidase Features: Immune deficiency, hearing loss, skeletal abnormalities. β-Mannosidosis: Gene: MANBA Encoded Protein: β-mannosidase Features: Intellectual disability, skeletal...

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

  8. Glycosylphosphatidylinositol (GPI) Anchor and Glycosphingolipid (GSL) Related Disordershttps://cnke.org/articles/476

    CHIME syndrome. Features: Colobomas. Heart defects. Ichthyosiform dermatosis. Intellectual disability and conductive hearing loss. PIGN Mutations: Condition: Multiple congenital anomalies-hypotonia-seizures syndrome. Features: Severe developmental...

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

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

    Tendon histology: Foamy histiocytes, multinucleated giant cells, cholesterol clefts. Brain findings: Demyelination, neuronal loss, lipid clefts, reactive astrocytosis. Peripheral nerves: Axonal degeneration. Clinical Presentation Key Symptoms by Age...

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

  10. Lisdexamfetamine Dimesylatehttps://cnke.org/articles/148

    Full effects maintained throughout the day. Safety and Side Effects Common Adverse Effects: Decreased appetite, weight loss. Insomnia, irritability. Gastrointestinal symptoms: nausea, abdominal pain. Cardiovascular effects: increased heart rate, blood...

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

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

    executive function, and working memory. Ocular Findings: Oculomotor apraxia. Nystagmus and strabismus. Neuropathology: Loss of Purkinje and granule cells. Imaging: Cerebellar atrophy (vermis and hemispheres). Intracerebral telangiectasias may appear....

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

  12. Sleep issues in Rett Syndromehttps://cnke.org/articles/158

    Abnormalities in both REM and NREM sleep are seen. EEG characteristics include slowing, epileptiform activity, and loss of sleep spindles and K-complexes after 2 years of age. Impact on Families: Sleep problems disrupt not only the individual but also...

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

  13. NGN-401https://cnke.org/articles/160

    virus (AAV) vector. Rett syndrome, predominantly affecting females, is characterized by early developmental regression, loss of purposeful hand use, gait abnormalities, and a range of motor, autonomic, and cognitive impairments. Current treatments are...

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

  14. Fragile X Syndromehttps://cnke.org/articles/578

    prevalence varies by population, with some regions (e.g., Colombia) reporting significantly higher rates. Pathophysiology Loss of FMRP disrupts synaptic plasticity, neuronal connectivity, and normal regulation of protein translation. Key physiological...

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

  15. Privacy statementhttps://cnke.org/about/privacy

    users, or others. Data Security We implement industry-standard measures to protect your data from unauthorized access, loss, or misuse. These include encryption, access controls, and regular security reviews. However, no method of transmission or...

    • Type: Article
    • Author: Editor
    • Category: About

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

    (Tripeptidyl Peptidase 1 Mutation) Causes CLN2 Batten Disease, featuring intellectual deficiency, seizures, and vision loss. Mitochondrial and Metabolic Disorders MARS2 (Methionyl-tRNA Synthetase 2 Mutation) Presents with intellectual deficiency,...

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

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

    and oculomotor apraxia: Consider Ataxia-Telangiectasia Sensory neuropathy with areflexia: Consider Friedreich Ataxia Visual loss (cone-rod dystrophy): Consider SCA7 Diagnostic Investigations Brain Imaging MRI: Assess cerebellar atrophy and other...

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

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

    atrophy, corneal endothelial degeneration Rare findings: Parkinsonism, tremors, hyperreflexia, posterior column sensory loss Family History Inheritance Pattern: Autosomal dominant inheritance Affected males and females in multiple generations Geographic...

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

  19. Congenital Muscular Dystrophyhttps://cnke.org/articles/224

    are often associated with developmental abnormalities in the eyes and brain, leading to: Cognitive deficits Epilepsy Visual loss Limb-Girdle Muscular Dystrophies (LGMDs): Milder, later-onset phenotypes. Weakness Distribution: More pronounced in upper...

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

  20. Facioscapulohumeral muscular dystrophy https://cnke.org/articles/226

    Most cases manifest in the second decade. Infantile (early-onset) FSHD (~4–5% of cases): severe presentation with early loss of ambulation, restrictive lung disease, cardiac arrhythmias, cognitive deficits, and retinal vasculopathy. Clinical Diagnosis:...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles
Results 41 - 60 of 62