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Cerebellar Disorders

by Hector A. Gonzalez-Usigli, MD, Alberto Espay, MD

Cerebellar disorders have numerous causes, including congenital malformations, hereditary ataxias, and acquired conditions. Symptoms vary with the cause but typically include ataxia (impaired muscle coordination). Diagnosis is clinical and often by imaging and sometimes genetic testing. Treatment is usually supportive unless the cause is acquired and reversible.

The cerebellum has 3 parts:

  • Archicerebellum (vestibulocerebellum): It includes the flocculonodular lobe, which is located in the medial zone. The archicerebellum helps maintain equilibrium and coordinate eye, head, and neck movements; it is closely interconnected with the vestibular nuclei.

  • Midline vermis (paleocerebellum): It helps coordinate trunk and leg movements. Vermis lesions result in abnormalities of stance and gait.

  • Lateral hemispheres (neocerebellum): They control quick and finely coordinated limb movements, predominantly of the arms.

There is growing consensus that in addition to coordination, the cerebellum controls some aspects of memory, learning, and cognition.

Ataxia is the archetypal sign of cerebellar dysfunction, but many other motor abnormalities may occur (see Signs of Cerebellar Disorders).

Signs of Cerebellar Disorders

Deficit

Manifestation

Ataxia

Reeling, wide-based gait

Decomposition of movement

Inability to correctly sequence fine, coordinated acts

Dysarthria

Inability to articulate words correctly, with slurring and inappropriate phrasing

Dysdiadochokinesia

Inability to perform rapid alternating movements

Dysmetria

Inability to control range of movement

Hypotonia

Decreased muscle tone

Nystagmus

Involuntary, rapid oscillation of the eyeballs in a horizontal, vertical, or rotary direction, with the fast component maximal toward the side of the cerebellar lesion

Scanning speech

Slow enunciation with a tendency to hesitate at the beginning of a word or syllable

Tremor

Rhythmic, alternating, oscillatory movement of a limb as it approaches a target (intention tremor) or of proximal musculature when fixed posture or weight bearing is attempted (postural tremor)

Etiology

Congenital malformations

Such malformations are almost always sporadic, often occurring as part of complex malformation syndromes (eg, Dandy-Walker malformation—see Etiology) that affect other parts of the CNS. Malformations manifest early in life and are nonprogressive. Manifestations vary markedly depending on the structures involved; ataxia is usually present.

Hereditary ataxias

Hereditary ataxias may be autosomal recessive or autosomal dominant. Autosomal recessive ataxias include Friedreich ataxia (the most prevalent), ataxia-telangiectasia, abetalipoproteinemia, ataxia with isolated vitamin E deficiency, and cerebrotendinous xanthomatosis.

Friedreich ataxia results from a gene mutation causing abnormal repetition of the DNA sequence GAA in the gene that codes for the mitochondrial protein frataxin. Inheritance is autosomal recessive. Decreased frataxin levels lead to mitochondrial iron overload and impaired mitochondrial function. Gait unsteadiness begins between ages 5 and 15; it is followed by upper-extremity ataxia, dysarthria, and paresis, particularly of the lower extremities. Mental function often declines. Tremor, if present, is slight. Reflexes and vibration and position senses are lost. Talipes equinovarus (clubfoot), scoliosis, and progressive cardiomyopathy are common. By their late 20s, patients may be confined to a wheelchair. Death, often due to arrhythmia or heart failure, usually occurs by middle age.

Spinocerebellar ataxias (SCAs) are the main autosomal dominant ataxias. Classification of these ataxias has been revised many times recently as knowledge about genetics increases. Currently, at least 28 different gene loci are recognized; at least 10 involve expanded DNA sequence repeats. Some involve a repetition of the DNA sequence CAG that codes for the amino acid glutamine, similar to that in Huntington disease. Manifestations vary. Some of the most common SCAs affect multiple areas in the central and peripheral nervous systems; neuropathy, pyramidal signs, and restless leg syndrome, as well as ataxia, are common. Some SCAs usually cause only cerebellar ataxia. SCA type 3, formerly known as Machado-Joseph disease, may be the most common dominantly inherited SCA. Symptoms include ataxia, parkinsonism, and possibly dystonia, facial twitching, ophthalmoplegia, and peculiar bulging eyes.

Acquired conditions

Acquired ataxias may result from nonhereditary neurodegenerative disorders (eg, multiple system atrophy—see Multiple System Atrophy), systemic disorders, multiple sclerosis, cerebellar strokes, repeated traumatic brain injury, or toxin exposure, or they may be idiopathic. Systemic disorders include alcoholism (alcoholic cerebellar degeneration), celiac sprue, heatstroke, hypothyroidism, and vitamin E deficiency. Toxins include carbon monoxide, heavy metals, lithium, phenytoin, and certain solvents. Toxic levels of certain drugs (eg, anticonvulsants) can cause cerebellar dysfunction and ataxia.

In children, primary brain tumors (medulloblastoma, cystic astrocytoma) may be the cause; the midline cerebellum is the most common site of such tumors. Rarely, in children, reversible diffuse cerebellar dysfunction follows viral infections.

Diagnosis

Diagnosis is clinical and includes a thorough family history and search for acquired systemic disorders. Neuroimaging, typically MRI, is done. Genetic testing is done if family history is suggestive.

Treatment

Some systemic disorders (eg, hypothyroidism, celiac sprue) and toxin exposure can be treated; occasionally, surgery for structural lesions (tumor, hydrocephalus) is beneficial. However, treatment is usually only supportive.

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  • DILANTIN
  • LITHOBID

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