Subacute (days to weeks)


Infection1 • Viral infection: varicella-zoster virus, Epstein-Barr virus, rubella, mumps, influenza, parainfluenza, echovirus, coxsackievirus, cytomegalovirus, FSME, herpes simplex virus. Children are more commonly affected than adults. Special type: opsoclonus-ataxia syndrome2.

• Miller Fisher syndrome (ataxia, ophthalmoplegia, areflexia;

Vascular • Brainstem signs (pp.70ff., 170) predominate

• Infarcts can be differentiated from hemorrhages by imaging studies

• Early treatment, often neurosurgical, may be needed to prevent rapid development of life-threatening complications (p. 174 f)

Toxic • Alcohol, barbiturates, phenytoin, lithium

Tumor3 • Occipital pain (radiating to forehead, nuchal region, and shoulders), recurrent vomiting, stiff neck, vertigo, truncal ataxia; obstructive hydrocephalus

Cerebellar dysfunction may appear months or years before the tumor is discovered. Anti-Purkinje-cell antibodies are present in the serum and CSF of patients with neuron loss


Medications (anticonvulsants, e. g., phenytoin; lithium, 5-fluorouracil, cytosine arabinoside) Heavy metals (mercury, thallium, lead) Solvents (toluene, carbon tetrachloride) Hypoxia, heat stroke, hyperthermia

Progressive rubella panencephalitis (very rare complication of congenital rubella infection in boys; onset at age 8 to 19 years; characterized by ataxia, dementia, spasticity, and dys-arthria)

Creutzfeldt-Jakob disease (p. 252)

Meningeal siderosis causes ataxia and partial or complete hearing loss (leptomeningeal deposition of hemosiderin in chronic subarachnoid hemorrhage o vascular malformations, oligodendroglioma, ependymoma of the cauda equina, postoperative occurrence) • Metabolic • Hypothyroidism, malabsorption syndrome (vitamin E defi ciency), thiamin deficiency (acute o Wernicke encephalo-pathy)

• Refsum disease5 (Liserum phytanic acid level, p. 332)

• Wilson disease5 (ataxia, tremor, dysarthrophonia, dysphagia, dystonia, behavioral disturbances, p. 307)

Intermittent • Metabolic5 • Hereditary metabolic disorders in neonates, children, and ju veniles (see also pp. 306 f, 386 f)

• Disorders of amino acid metabolism (hyperammonemia, Hartnup syndrome, maple syrup urine disease)

• Storage diseases (metachromatic leukodystrophy, neuronal ceroid lipofuscinosis, sialidosis, GM2 gangliosidosis)

1 Partial listing; numerous infections can cause ataxia as part of the syndrome of encephalomyelitis. 2 High-frequency bursts of saccades in all directions of gaze without an intersaccadic interval. 3 See p. 254 ff; cerebellar astrocytoma, medulloblastoma, ependymoma, hemangioblastoma (von Hippel-Lindau disease), meningioma of the cerebellopontine angle, metastases (lung cancer, breast cancer, melanoma). 4 Antibodies (p. 388) against Hu, Yo, TR, CV2, Ma1, CRD1, CRD2, Ma2, and mGluR1. 5 Genetic; listed here for differential diagnostic purposes.

Chronic (months to • Infection years)



Hereditary Hyperammonemia

Malabsorptive and metabolic cerebellar syndromes

Paraneoplastic and hypoxic cerebellar syndromes

Hereditary Cerebellar Syndromes

■ Autosomal Recessive Cerebellar Syndromes (partial listing)


Symptoms and Signs

CL1/Gene Product

Friedreich ataxia2,7

Usual manifestations:

9q13, 9p23-p11/

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