Healthcare: Neurology





Ataxia is derived from the Greek word meaning "irregularity" or "disorderliness" but when used medically, the term describes a condition characterized by poor coordination of movements. Ataxia may cause involuntary eye movements (nystagmus), incoordination of hands, difficulty with fine motor tasks (such as eating or writing), slurring of speech and an unsteady walk. It may make the person appear "drunk." Ataxic patients are unable to walk in a straight line and tend to bump into things. In advanced stages, they may need a walker or even a wheelchair. Patients also may have difficulties with vision due to the eye movement abnormalities. Damage or degeneration in the back part of the brain called the cerebellum results in ataxia. It can also occur because of problems with the sensory system (abnormal perception of a position of a body part in space) and vestibular system (abnormal balance). A neurologist can usually differentiate between the two types of ataxia: motor and sensory.

There are about 150,000 patients affected by some form of ataxia in the United States.




The diagnosis of ataxia is made after a careful, detailed clinical examination by a neurologist. Once the presence of ataxia has been determined, the cause is determined based on the time course and other neurological features (described below). Several laboratory tests can help aid diagnosis. MRI and spinal fluid analysis can also be helpful. In many cases, genetic testing is required.




There are many causes of ataxia but most can be categorized as sporadic (no specific cause), genetic (also referred to as hereditary or running in families) or secondary to a medical illness, certain drugs or an injury to the brain. Congenital ataxias occur in children, and they are most commonly due to structural abnormalities in the brain that occur before or during birth. These include cerebral palsy (often associated with brain injury at birth due to lack of oxygen or blood supply), hydrocephalus (increased pressure caused by blockage or buildup of cerebrospinal fluid), brain tumors, and other injuries to the brain.

Ataxia can occur suddenly (acute), over weeks (subacute) or slowly progressive over months to years (chronic). In acute cases the most common cause is either stroke or hemorrhage in or around the cerebellum. Patients usually have headache, vomiting, neck stiffness or loss of consciousness. In children, bacterial or viral infections can cause acute ataxia and this usually improves with time. They develop fever, problems with walking and slurred speech over a period of hours to days and recover over weeks. Subacute onset of ataxia is usually seen in paraneoplastic cerebellar degeneration. This is a condition in which cancer in the breast, lungs, ovaries or other areas in the body produces antibodies that affect the cerebellum and cause ataxia.

Hereditary or genetic ataxias occur because of gene mutations that lead to abnormal proteins making neurons function abnormally. You may inherit this from one parent and be affected (autosomal dominant inheritance, 50% chance of transmission to children) or from both parents (autosomal recessive inheritance, 25% chance of transmission to children if both parents carry the gene mutation and do not have symptoms). Sometimes there may be no clear family history.

Autosomal dominant ataxias include the spinocerebellar ataxias and episodic ataxias. Spinocerebellar ataxias (SCA) represent the most common form of chronic progressive ataxia in adults. They result from degeneration of pathways between the spinal cord and cerebellum. There are many types (SCA 1 to 37 have been recognized) and the number continues to grow based on new research. All patients with these disorders must undergo genetic counseling. SCA-2 is most common in the US and SCA-3 is most common in Japan, Germany, Portugal and France. Typical age of onset of these syndromes is 4-60 years with average of 40 years. Patients can become disabled by five years, bedridden by ten years and death occurs anywhere between 10-20 years after the onset of disease. The common clinical problems in SCA are gait ataxia, eye movement abnormalities (nystagmus or jerkiness and double vision), and dysarthria (speech difficulty). Some of the SCAs (SCA1, 2, 3, 4, 7 and 8) also cause peripheral neuropathy (damage to the peripheral nerves which causes the patient to have numbness or tingling in the hands and feet). Some SCA’s can result in blindness by causing damage to the retina and the macula in the eye (SCA 7).

Episodic ataxia (EA) is a disorder with intermittent spells of ataxia with complete recovery between episodes. The best characterized are types 1 and 2. They are caused by genetic mutations within a voltage gated potassium channel gene (KCNA1 on chromosome 12) and the cerebral P/Q type calcium channel gene (CACNL1A4 on chromosome 19) respectively. Patients have spells of walking difficulty, dysarthria (difficulty with speech) and nystagmus (abnormal eye movements) with complete recovery between episodes. They may be triggered by stress, being startled or a sudden movement. EA type 1 involves brief episodes lasting seconds or minutes. EA type 2 episodes are longer, lasting minutes to hours. EA types 3 through 7 are also recognized. Genetic episodic ataxias are responsive to medical treatment. Drug ingestion, multiple sclerosis and other causes can also lead to episodic ataxia in some cases.

Friedrich's ataxia is an example of autosomal recessive ataxia. It is a disorder due to excessive repeats of nucleotides GAA in the DNA. Patients have ataxia along with spasticity, speech problems, nystagmus, weakness of lower extremities, and sensory problems. Patients with Friedreich's ataxia also may develop scoliosis (curvature of spine), cardiomyopathy (enlargement of the heart), and diabetes and bowel and bladder dysfunction. This is a slow, progressive disorder but most patients become wheelchair bound within 10-20 years after onset. There is a marked variability in the presentation and progress of the disease. Other recessively inherited ataxias include vitamin-E deficiency (due to alpha tocopherol transfer protein deficiency or abetalipoproteinemia), ataxia telangiectasia, ataxia with oculomotor apraxia type I and II, and infantile onset spinocerebellar ataxia among others.

There are other inherited disorders that can cause ataxia, including DRPLA (dentatorubro-pallidoluysian atrophy). This is a rare neurodegenerative disorder that causes difficulties with walking (ataxia), problems with speech, dementia, chorea (involuntary writhing type of movements) and jerkiness of muscles (myoclonus). Some of the younger patients have seizures.

Ataxia can be a part of Fragile X-associated tremor/ataxia syndrome (FXTAS). This is a genetic disorder with a gene located on X-chromosome (female sex chromosome). It affects mainly males but can occur in female carriers of the mutation. The clinical spectrum of FXTAS includes progressive ataxia, tremor, cognitive decline and other features.

Other causes of chronic progressive ataxia include several disorders like degeneration of cerebellum due to alcohol, vitamin E or copper deficiency. Vitamin B12 deficiency causes sensory ataxia in addition to muscle weakness.




Of all the movement disorders, ataxia is among the most resistant to medical therapy. Clonazepam may help tremor and balance problems. It has side effects such as sedation, fatigue or loss of libido among others. Other medications such as buspirone or 5-hydroxytryptophan have been studied but they have not been shown to be very beneficial. Phenytoin, an anticonvulsant, is useful for some episodic ataxias. Acetazolamide is useful in some of the rare forms of episodic ataxias.

Genetic ataxias do not have any definitive treatments. Some of the disorders have been reported to be slowed by taking antioxidants such as vitamins A, E, B12, idebenone, and coenzyme Q10. Vitamin E is the treatment of choice in ataxia caused by vitamin E deficiency. Vitamin B12 or copper supplements are used to treat ataxia related to vitamin B12 or copper deficiency respectively. When associated with parkinsonism, such as seen in the cerebellar form of multiple system atrophy, levodopa may be helpful.

Weakness and spasticity contribute to the difficulties the patient may experience in ataxia. Physical therapy to maximize strength and flexibility are helpful. General physical therapy and regular exercise are highly recommended. Early therapy may help patients avoid developing contractures. Patients with ataxia can benefit from gait training during the earlier stages of the disease. Adaptive devices such as canes, wheelchairs and communication aids can help. Adjustments at home can be discussed with the occupational therapist. Speech therapy can be helpful for some patients.

Care of the bed-ridden patient in advanced stages of the progressive ataxia is very important. Skin care and eventual placement of PEG tube (feeding tube) in patients with swallowing difficulties will help prevent lung infections.

For more information, see Appendix - Classification of Spinocerebellar Ataxias below.


Ataxia Appendix


Classification of Spinocerebellar Ataxias




SCA1 (autosomal dominant type1)

6p23 with > 40 CAG repeats (Exonic) Ataxin1

Ataxia with ophthalmoparesis, pyramidal and extrapyramidal findings, chorea, spasticity, neuropathy, ophthalmoplegia

SCA2 (autosomal dominant type 2)

12q24.1 with > 31CAG repeats (Exonic) Ataxin2

Ataxia with slow saccades, ophthalmoplegia, and minimal pyramidal and extrapyramidal findings, levodopa-responsive parkinsonism, tremor, chorea, myoclonus, seizures, areflexia, neuropathy, dementia

SCA3 (Machado-Joseph disease) (autosomal dominant type 3)

14q24.3-q31 with > 38 CAG repeats (Exonic) Allelic to Machado-Joseph disease (MJD) Ataxin3

Ataxia with ophthalmoparesis, diplopia and variable pyramidal and extrapyramidal signs, spasticity, muscle weakness, and amyotrophy, psychosis, dystonia, neuropathy. Gene has been also associated with parkinsonian phenotype.

SCA4 (autosomal dominant type 4)


Ataxia with normal eye movements, sensory axonal neuropathy, and pyramidal signs

SCA5 (autosomal dominant type 5) Also called Lincoln ataxia

Centromeric region of chromosome 11, 11p11-q11

Ataxia and dysarthria, early onset, slow course

SCA6 (autosomal dominant type 6)

19p13 with > 20 CAG repeats in α1A-voltage-dependent calcium channel gene, CACNA1A (Exonic)

Ataxia, dysarthria, diplopia, nystagmus, mild proprioceptive sensory loss, dystonia, normal life span, may be episodic

SCA7 (autosomal dominant type 7)

3p21.1-p12 with > 30 CAG repeats (Exonic) Ataxin7

Ophthalmoparesis, visual loss, ataxia, dysarthria, extensor plantar response, spasticity, pigmentary retinal degeneration, dementia

SCA8 (autosomal dominant type 8)

13q21 with > 91 CTG repeats (untranslated) (10q23-q24)

Gait ataxia, dysarthria, seizures, diplopia, nystagmus, tremor; leg spasticity and reduced vibratory sensation, normal life span


Not assigned


SCA10 (autosomal dominant type 10)

22q13, > 800 ATTCT, noncoding, Ataxin10

Gait ataxia, dysarthria, nystagmus, partial complex and generalized motor seizures, tremor, spasticity, Mexican families

SCA11 (autosomal dominant type 11)


Slowly progressive gait and extremity ataxia, dysarthria, vertical nystagmus, hyperreflexia, mild

SCA12 (autosomal dominant type 12)

5q31-q33, > 66 CAG repeats in the promotor region, coding for protein phosphatase 2A

Tremor, bradykinesia, parkinsonism, dementia, hyperreflexia

SCA13 (single French family)

19q13.3-q13.4 (6q27 with CAG repeats in the TATA binding protein gene)

Gait and extremity ataxia, hyperflexia, extensor plantar responses, dysarthria, dysphagia, mental retardation, dementia, short stature

SCA14 (autosomal dominant type 14)

19q13.4, Protein kinase C γ

Pure ataxia in late-onset (>39), myoclonus and ataxia in young-onset

SCA15 (one Australian family)

3p24.2-pter (6q27 with CAG repeats)

Pure ataxia, slowly progressive

SCA16 (one Japanese family)


Ataxia, head and hand tremor


6q27 with > 42 CAG repeats, TATA-Box binding protein

Ataxia, chorea, dystonia, dementia, psychosis, seizures, HD-like phenotype

SCA18 (one Irish-American family)



SCA19 (one Dutch family)


Dementia, myoclonus; might be allelic with SCA22




SCA20 (autosomal dominant)

11 (but awaiting differentiation from SCA5)

Palatal myoclonus (tremor) and dysphonia, dentate calcification [Knight et al, 2004]

SCA21 (one French family)


Ataxia, parkinsonism, tremor, hyporeflexia, dementia

SCA22 (one Chinese family)


Chinese family, age at onset 10-46, gait ataxia, dysarthria, hyporeflexia, slowly progressive pure cerebellar ataxia and atrophy; might be allelic with SCA19

SCA23 (one Dutch family)


Ataxia, decreased vibratory sense in lower extremities

Spinocerebellar ataxia with saccadic intrusions (formerly known as SCA24)

SCASI, 1p36, autosomal recessive

Ataxia, dysarthria, pyramidal signs, macrosaccadic oscillations, sensory loss of all modalities in legs and feet

SCA25 (autosomal dominant) (one French family)


French family with ataxia and sensory neuropathy, onset 17 months to 39 years, may be similar to Friedreich's ataxia



Pure cerebellar ataxia, imaging demonstrating cerebellar atrophy sparing pons



Ataxia associated with high frequency hand tremor and orofacial dyskinesias


AFG3L2, 18p11.22

Slowly progressive ataxia with ophthalmoparesis



Autosomal dominant congenital nonprogressive cerebellar ataxia with or without cerebellar hypoplasia. Found to overlap with SCA15 gene.



Slowly progressive adult onset cerebellar ataxia with minor pyramidal signs and no neuropathy

SCA31 (Japanese form of SCA4)

16q22, PLEKHG4, puratrophin-1

Almost purely cerebellar ataxia, autosomal dominant


20p13-12.2, TGM6

Autosomal dominant ataxia, tremor, cervical dystonia

Dentatorubropallidoluysian atrophy (DRPLA) (autosomal dominant)

12p13.31, > 36 CAG repeats, Atrophin-1, c-Jun NH(2)-terminal kinase (JNK)

Ataxia, choreoathetosis, dystonia, seizures, myoclonus, dementia parkinsonism, hyporeflexia

Friedreich's ataxia (autosomal recessive)

9q13-q21.1 with intronic GAA repeats, Frataxin

Ataxia, areflexia, extensor plantar responses, position sense deficits, cardiomyopathy, diabetes mellitus, scoliosis, foot deformities; defective iron transport from mitochondria

Friedreich's ataxia (autosomal recessive)

9p13 (intron 1), GAA repeats, Frataxin

Same as phenotype with maps to 9q but associated with vitamin E deficiency

Kearns-Sayre syndrome (sporadic)

MtDNA deletion and duplication mutations

Ptosis, ophthalmoplegia, pigmentary retinal degeneration, cardiomyopathy, diabetes mellitus, deafness, heart block, increased CSF protein, ataxia

Autosomal recessive spastic ataxia of Charlevoix-Saguenay

SACS 13q11-12

Childhood-onset, Ataxia, spasticity, retinal striations, dysarthria, axonal peripheral neuropathy, distal atrophy, atrophy of upper cerebellar vermis

Myoclonus epilepsy and ragged red fiber syndrome (MERRF) (maternal inheritance)

Mutation in mtDNA of the tRNAlys at 8344: also mutation at 8356

Myoclonic epilepsy, ragged red fiber myopathy, ataxia

Mitochondrial encephalopathy, lactic acidosis, and stroke syndrome (MELAS) (maternal inheritance)

TRNAleu mutation at 3243; also at 3271 and 3252

Headache, stroke, lactic acidosis, ataxia

Leigh's disease; subacute necrotizing encephalopathy (maternal inheritance or autosomal recessive)

MtDNA complex V defect (ATPase gene at 8993) or mitochondrial protein synthesis defect (both maternally inherited); or complex IV defect (autosomal recessive)

Obtundation, hypotonia, cranial nerve defects, respiratory failure, hyperintense signals on T2-weighted magnetic resonance images in basal ganglia, cerebellum, or brainstem; ataxia

Ataxia telangiectasia (autosomal recessive)

11q22-23; ATM gene for regulation of cell cycle. Mitogenic signal transduction, and meiotic recombination

Telangiectasia, ataxia, slow saccades, ocular apraxia, dysarthria, dystonia and chorea may be present, pulmonary infections, neoplasms of lymphatic system; IgA and IgG deficiencies; diabetes mellitus, breast cancer

Infantile-onset spinocerebellar ataxia of Nikali et at. (autosomal recessive)


Infantile ataxia, sensory neuropathy; athetosis, hearing deficit, ophthalmoplegia, optic atrophy; primary hypogonadism in females

Ataxia with oculomotor apraxia type 1 (AOA1) / Early-onset ataxia with oculomotor apraxia and hypoalbuminemia (EAOH); Shimazaki et al, 2002

APTX, Aprataxin , 9p13.3, autosomal recessive, associated with DNA single-strand and double-strand break repair machinery

Ataxia, oculomotor apraxia, may have chorea and peripheral neuropathy. Presentation similar to ataxia telangiectasia but without immune deficiencies and diabetes.

Ataxia with oculomotor apraxia type 2 (AOA2) (autosomal recessive); Le Ber et al 2004

SETX, Senataxin, linked to 9q34

Ataxia with later onset than AOA1, may be associated with oculomotor apraxia, elevated AFP, CK, and gamma globulin levels. SETX gene is also associated with Juvenile ALS Type 4.


Episodic Ataxia




Episodic ataxia, type I (EA-1) (autosomal dominant)

12p; potassium channel gene KCNA-1

Episodic ataxia for minutes; provoked by startle or exercise; with facial and hand myokymia; cerebellar signs are not progressive; responds to phenytoin

Episodic ataxia, type II (EA-2) (autosomal dominant)

19p-13(CACNA1A) (allelic with SCA6) alpha1A-voltage dependent calcium channel subunit)

Episodic ataxia for days: provoked by stress, fatigue; with down-gaze nystagmus; cerebellar atrophy; progressive cerebellar signs; responds to acetazolamide. Gene also associated with familial hemiplegic migraine and idiopathic generalized epilepsy.

Episodic ataxia, type III (EA-3)


Episodic vestibular ataxia, vertigo, tinnitus and interictal myokymia. Responds to acetazolamide.

Episodic ataxia, type IV (EA-4)


Progressive ataxia, vertigo, diplopia

Episodic ataxia, type V (EA-5)


Dysarthria, episodic ataxia, spontaneous and gaze evoked nystagmus. Responds to acetazolamide. Gene also involved in juvenile myoclonic epilepsy.

Episodic ataxia, type VI (EA-6)

SLC1A3 involved in glutamate transport

Episodic ataxia with seizures, migraine, and alternating hemiplegia

Episodic ataxia, type VII (EA-7)

Autosomal dominant, 19q13

Episodic ataxia with weakness and dysarthria