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Saturday, 04 January 2025

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Assuming cerebellar is required, the following 28 results were found.

  1. Hereditary ataxias due to repeat expansionshttps://cnke.org/articles/186

    repeat expansions is recommended before Next-Generation Sequencing (NGS) analysis. Key clinical features often include cerebellar ataxia and other systemic manifestations. MRI findings can assist in the diagnosis by revealing characteristic patterns of...

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

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

    and Related Conditions ATX–ATM (Ataxia-Telangiectasia Mutated gene) A progressive condition involving cerebellar ataxia, oculomotor apraxia, immunodeficiency, and increased risk of malignancies. Chorea is a possible symptom. ATX–APTX (Aprataxin gene...

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

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

    cerebellum Additional involvement: Often affects spinal cord and peripheral nerves Primary clinical feature: Progressive cerebellar syndrome leading to significant disability Genetic basis: Over 100 new entities described in the past 25 years, with up...

    • 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

    to any 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...

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

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

    • Type: Tag
    • Author: Editor

  7. Pendular Nystagmushttps://cnke.org/articles/462

    Neurological Disorders: Multiple sclerosis (common in brainstem involvement) Pelizaeus-Merzbacher disease Brainstem or cerebellar lesions Sensory Deprivation: Long-standing visual impairment (e.g., retinal degeneration, optic nerve hypoplasia)...

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

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

    cardiomyopathy, 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,...

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

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

    antiepileptic medications: Phenytoin: Exquisitely neurotoxic, previously contributing to severe progressive myoclonus and cerebellar ataxia. Proper management: Can avert dementia, minimize myoclonus and seizures, and maintain a normal lifespan...

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    • Author: Editor
    • Category: Home

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

    Head bobbing. Slow loss of intellect. Slowly developing optic atrophy. Hearing normal. Nystagmus. Head and body normal. Cerebellar signs Spasticity Hyperreflexia Usually only late None specific Point mutations or duplications of PLP gene account for...

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

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

    (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 children. Multisystemic Disorder: Neurologic,...

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

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

    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 encephalomyopathy of childhood; fatigue,...

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    • Author: Editor
    • Category: Home

  13. Infantile Spasms Syndromehttps://cnke.org/articles/269

    Features: PEHO Syndrome: A rare, progressive encephalopathy presenting with edema, hypsarrhythmia, optic atrophy, and cerebellar atrophy. Mutation in ZNHIT3 gene identified as primary cause (Anttonen AK et al., 2017). Aicardi Syndrome: Affects females,...

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

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

    Key physiological effects: Increased neuronal excitation Reduced GABAergic activity Brain-specific impacts: Decreased cerebellar size Hypoplasia of the cerebellar vermis Enlargement of the caudate nucleus Clinical Presentation Physical Features: Long,...

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

  15. Neurological Reflexeshttps://cnke.org/articles/knowledge-maps/210

    to tapping the upper lip. Glabellar Reflex (Myerson Sign) - Persistent blinking upon repetitive tapping of the glabella. Cerebellar and Postural Reflexes Romberg Test - Loss of balance with eyes closed while standing. Pendular Reflexes - Persistent...

    • Type: Article
    • Author: Editor CNKE
    • Category: Articles (open)

  16. Biochemical investigations in Bloodhttps://cnke.org/articles/13

    delay with retinopathy and sensorineural deafness. Skeletal dysplasias. Ataxia especially with oculomotor apraxia. Spinocerebellar ataxia Fasting ↓ in peroxisomal deficiency, Smith-Lemli-Opitz syndrome and other defects of cholesterol biosynthesis, and...

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

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

    ratio low. Treatment: Ketogenic diet. 15. Vitamin E Deficiency Presentation: Ataxia, neuropathy, retinopathy, spinocerebellar symptoms. Key Investigations: Blood vitamin E levels. Treatment: Vitamin E supplementation. 16. Wilson Disease Presentation:...

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    • Author: Editor
    • Category: Home

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

    creatine peak desirable ↑ in GAMT deficiency. ↓1 in AGAT deficiency VMA (HMMA). HVA (catecholamines) Acute or subacute cerebellar ataxia/myoc onus/opsoclonus Special diet no longer usually indicated; 24-h urine preferred (whole body imaging more...

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    • Author: Editor
    • Category: Home

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

    show any abnormalities particularly malformations. somtimes signs of slight or moderate, diffuse, cerebral atrophy, cerebellar atrophy or increased white matter signal (T2 weight) can be seen in some cases, neuroimaging may be normal at the onset with...

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

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

    lasting from hours to days. The headache is usually contralateral to the hemiparesis. Some cases are associated with cerebellar ataxia, and severe forms may present with coma, fever, and meningismus. Treatment may include acetazolamide or calcium...

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    • Author: Editor
    • Category: Home
Results 1 - 20 of 28