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cerebellar ataxia (cerebellar syndrome, cerebellar dysmetria)

Etiology: 1) symmetric & progressive signs a) acute (days to hours) 1] drugs a] alcohol b] lithium c] phenytoin (Dilantin) d] barbiturates 2] acute viral cerebellitis 3] postinfection syndrome b) subacute (days to weeks) 1] intoxication a] mercury b] solvents c] gasoline d] glue e] cytotoxic chemotherapy 2] alcoholic-related nutritional deficiency a] thiamine deficiency b] vit B12 deficiency 3] Lyme disease c) chronic (months to years) 1] paraneoplastic syndrome 2] hypothyroidism 3] inherited diseases 4] tertiary syphilis (tabes dorsalis) 2) ocal & ipsilateral cerebellar signs a) acute (hours to days) 1] vascular a] cerebellar infarction b] cerebellar hemorrhage c] subdural hematoma 2] infectious - cerebellar abscess b) subacute (days to weeks) 1] neoplastic a] cerebellar glioma b] metastatic tumor 2] demyelinating a] multiple sclerosis b] progressive multifocal leukoencephalopathy (PML), AIDS-related c) chronic (months to years) 1] gliosis secondary to vascular lesion or demyelinating plaque 2] congenital lesion a] Dandy-Walker malformation b] Arnold-Chiari malformation c] Friedreich ataxia Epidemiology: - late-onset cerebellar ataxia prevalence is 1-3 per 100,000 [3] Genetics: - intronic FGF14 GAA repeat expansion in late-onset cerebellar ataxia [3] - autosomal dominant inheritance Clinical manifestations: - gait ataxia - wide-based gait with increased trunk sway - irregular stepping, staggering, especially on turns - poor trunk control - incoordination or other cerebellar signs - not much change in balance with eyes closed (negative Rhomberg test) - late-onset cerebellar ataxia manifests after 30 years of age [3]

Specific

cerebellar ataxia, Cayman-type Friedreich ataxia spinocerebellar ataxia (SCA)

General

cerebellar degeneration ataxia; dyssynergia

Database Correlations

OMIM correlations

References

  1. Harrison's Principles of Internal Medicine, 14th ed. Fauci et al (eds), McGraw-Hill Inc. NY, 1998, pg 2263-67
  2. Geriatric Review Syllabus, 7th edition Parada JT et al (eds) American Geriatrics Society, 2010 - Geriatric Review Syllabus, 8th edition (GRS8) Durso SC and Sullivan GN (eds) American Geriatrics Society, 2013
  3. Pellerin D et al. Deep intronic FGF14 GAA repeat expansion in late-onset cerebellar ataxia. N Engl J Med 2023 Jan 12; 388:128 PMID: 36516086 https://www.nejm.org/doi/10.1056/NEJMoa2207406