Última actualización:
March 14, 2017
Años publicados: 1989, 1997, 2004, 2011, 2014, 2017
NORD gratefully acknowledges Thomas Bird, MD, Professor of Neurology, Head of the Division of Neurogenetics, University of Washington; Research Neurologist, Seattle VA Medical Center, for assistance in the preparation of this report.
Summary
The hereditary ataxias are a group of neurological disorders (ataxias) of varying degrees of rarity that are inherited, in contrast to a related group of neurological disorders that are acquired through accidents, injuries, or other external agents. The hereditary ataxias are characterized by degenerative changes in the brain and spinal cord that lead to an awkward, uncoordinated walk (gait) accompanied often by poor eye-hand coordination and abnormal speech (dysarthria). Hereditary ataxia in one or another of its forms may present at almost any time between infancy and adulthood.
The classification of hereditary ataxias is complex with several schools of thought vying for recognition. This report follows the classification presented by Dr. Thomas D. Bird and the University of Washington’s GeneReviews.
This classification is based on the pattern of inheritance or mode of genetic transmission of the disorder: i.e., autosomal dominant, autosomal recessive and X-linked. The autosomal dominant ataxias, also called the spinocerebellar ataxias, are usually identified as SCA1 through SCA37. Also included are several “episodic ataxias”, as well as a very rare disorder known as DRPLA (dentato-rubro-pallido-luysian atrophy). This report deals with the autosomal dominant hereditary ataxias. There are fewer autosomal recessive hereditary ataxias than autosomal dominant hereditary ataxias, and X-linked forms of ataxia are very rare.
Introduction
At one time, all autosomal dominant ataxias were called Marie’s ataxia and all autosomal recessive ataxias were called Friedreich’s ataxia. This is no longer appropriate because there is now much more accurate information about these diseases.
Ataxia is most often associated with degeneration of the region of the brain known as the cerebellum where movement, posture, and balance are coordinated. Thus, many of the symptoms and signs are those expected from cerebellar dysfunction. Ataxia may also be associated with damage (lesions) to the spinal cord. Symptoms and signs often include a characteristic wide-based and unsteady way of walking (gait) that may be accompanied by awkward eye-hand coordination and slow, weak, or imprecise speech.
Other symptoms and signs may include involuntary eye movement (nystagmus) or double vision (diplopia), sensory loss, and cognitive impairment.
Some types of ataxia may be complicated by vision disorders including optic atrophy, retinitis pigmentosa, and eye movement paralysis (ophthalmoplegia).
Other types of hereditary ataxia may be associated with heart disease, breathing problems, bone abnormalities and diabetes.
Some clinical features that may be associated with specific forms of autosomal dominant hereditary ataxia are listed below. In this list, SCA refers to spinocerebellar ataxia; DRPLA refers to dentato-rubro-pallido-luysian atrophy; EA refers to episodic ataxia; and SAX refers to spastic ataxia.
SCA1: Tremors of the hands (Parkinson-like), numbness in fingers and toes (peripheral neuropathy)
SCA2: Involuntary, irregular eye movements that occur when changing focus from one point to another (saccade), numbness of fingers and toes (peripheral neuropathy), loss of deep tendon reflexes such as at the kneecap, sometimes dementia
SCA3 (Machado Joseph Disease): Hand tremors, some rigidity, slowness of movement (extrapyramidal signs), involuntary eye movement (nystagmus), drawn back eyelids (lid retraction), numbness (sensory loss), eye jerking (saccade), muscle weakness and wasting (amyotrophy) with muscle twitches, most common dominant genetic ataxia
SCA4: Progressive painless clumsiness, muscle weakness and atrophy
SCA5: Early onset and slow progression
SCA6: Very slow course, usually adult onset
SCA7: Damage to the retina (retinopathy) with vision loss
SCA8: Decreased sense of vibrations
SCA10: Occasional seizures
SCA11: Mild signs, able to walk about
SCA12: Early tremor, late dementia
SCA13: Mild intellectual disability, short stature
SCA14: Slow progression of disease
SCA15: Very slow worsening of the walk or gait
SCA16: Head tremor
SCA17: Mental function declines
SCA18: Ataxia with early sensory/motor neuropathy, nystagmus, dysarthria, decreased tendon reflexes
SCA19/22: Mild ataxia, spasms (myoclonus), mental deterioration and tremor, slow worsening of the walk or gait
SCA20: Early dysarthria, spasmodic dysphonia, hyperreflexia, bradykinesia
SCA21: Mild mental deterioration
SCA23: Dysarthria, abnormal eye movements, reduced vibration and position sense
SCA25: Associated sensory neuropathy
SCA26: Dysarthria, irregular visual pursuits
SCA27: Early onset tremor, cognitive deficits
SCA28: Nystagmus, ptosis
SCA29: childhood learning deficits
SCA30: Hyper reflexia, adult onset
SCA31: Normal sensation, adult onset
SCA32: Males infertile
SCA34: Skin lesions
SCA35: Hyperreflexia, babinski responses
SCA36: Tongue atrophy, adult onset
SCA37: Abnormal vertical eye movements
SCA38: Adult onset, axonal neuropathy
SCA40: Adult onset, brisk reflexes, spasticity
SCA42: Mild pyramidal signs, saccadic pursuit
ADCADN: Deafness, sensory loss, narcolepsy
Hypomyelinating leukoencephalopathy: Hypomyelination, basal ganglia atrophy, rigidity, dystonia, chorea
GRID2-related spinocerebellar ataxia: Cognitive delay, abnormal eye movements, hearing loss
Pure cerebellar ataxia: Other family members may have frontotemporal dementia or motor neuron disease
Cerebellar atrophy with epileptic encephalopathy: Infantile seizures, intellectual deficits, microcephaly
Rapid-onset ataxia: Cerebellar atrophy
DRPLA: Rapid, sudden involuntary movements (chorea), seizures, dementia, shocklike spasms (myoclonus), more common in Japan
EA1: Involuntary, rippling, muscular motion (myokymia), startle- or exercise-induced,
EA2: Involuntary rapid eye movements (nystagmus), dizziness (vertigo)
EA3: Vertigo, spasticity, involuntary eye movements (vestibulo-ocular reflex), ringing in the ears (tinnitus), double vision (diplopia)
EA4: Vertigo, rippling of muscles (myokymia), ringing in ears (tinnitus), double vision, and blurred vision
EA5: Childhood to adolescent onset
EA6: Seizures, migraine, childhood onset
EA7: Vertigo, weakness, ? seizures, childhood to adolescent onset
CAPOS: Cerebellar ataxia, areflexia, Pes cavus, optic atrophy, sensorineural hearing loss, also alternating hemiplegia
Episodic ataxia with neonatal epilepsy: neonatal epilepsy, later-onset episodic ataxia, autism, hypotonia, dystonia
SAX1: Progressive leg spasticity, gait ataxia
As noted above, some forms of the hereditary ataxias are transmitted in a dominant mode, others are transmitted through a recessive mode, and still others are transmitted in an X-linked fashion. This report deals with the disorders transmitted in an autosomal dominant fashion.
For many of the ataxias, the chromosomal site of the faulty gene is known or the actual gene involved has been identified. These are listed below for autosomal dominant hereditary ataxias. Little p indicated the short arm of the chromosome, little q represents the long arm of the chromosome.
SCA1: 6p23; ATXN1
SCA2: 12q24; ATXN2
SCA3: 14q24.3-q31; ATXN3
SCA4: 16q22.1
SCA5: 11p11-q11; SPTBN2
SCA6: 19p13; CACNA1A
SCA7: 3p21.1-p12; ATXN7
SCA8: 13q21; ATXN8 / ATXN80S
SCA10: 22q13; ATXN10
SCA11: 15q14-q21.3; TTBK2
SCA12: 5q31-q33; PPP2R2B
SCA13: 19q13.3-q13.4; KCNC3
SCA14: 19q13.4-qter; PRKCG
SCA15: ITPR1
SCA16: 8q22.1-q24.1; SCA16
SCA17: 6q27; TBP
SCA18: IFRD1
SCA19/22: KCND3
SCA20: 11q12.2-11q12.3
SCA21: 7p21-p15; TMEM240
SCA22: 1p21-q23; KND3
SCA23: PDYN
SCA25: 2p15-21; SCA25
SCA26: 19p13.3; EEF2
SCA27: FGF14
SCA28: AFG3L2
SCA29: 3p26; ITPR1
SCA30: 4q34.3-q35.1
SCA31: BEAN1
SCA32: 7q32
SCA34: 6p12.3-q16.2; ELOVL4
SCA35: TGM6
SCA36: NOP56
SCA37:1p32
SCA38: ELOVL5
SCA40: CCDC88C
SCA42: CACNA1G
DRPLA: 12p13.31; ATN1
ADCADN: DNMT1
Hypomyelinating leukoencephalopathy: TUBB4A
GRID2-related spinocerebellar ataxia: GRID2
Pure Cerebellar Ataxia: C9orf72
Cerebellar atrophy with epileptic encephalopathy: FGF12
Rapid-onset ataxia: ATP1A3
EA1: 12p13; KCNA1
EA2: 19p13; CACNA1A
2q22-q23; CACNB4
EA3: 1q42
EA5: CACNB4
EA6: SLC1A3
EA7: 1q13
Episodic ataxia with neonatal epilepsy: SCN2A
CAPOS: ATP1A3
SAX1: 12p13; VAMP1
Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual. Human body cells normally have 46 chromosomes. Pairs of human chromosomes are numbered from 1 through 22 and the sex chromosomes are designated X and Y. Males have one X and one Y chromosome, and females have two X chromosomes. Each chromosome has a short arm designated “p” and a long arm designated “q”. Chromosomes are further sub-divided into many bands that are numbered. For example, “chromosome 11p11-q11” refers to a region between band 11 on the short arm of chromosome 11 and band 11 on the long arm of chromosome 11. The numbered bands specify the location of the thousands of genes that are present on each chromosome.
Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother.
Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary for the appearance of the disease. The abnormal gene can be inherited from either parent, or can be the result of a new mutation (gene change) in the affected individual. The risk of passing the abnormal gene from affected parent to offspring is 50% for each pregnancy regardless of the gender of the resulting child.
Autosomal dominant hereditary ataxias have been further classified as trinucleotide repeat disorders. A trinucleotide repeat is a segment of DNA that is repeated. An abnormally large number of repeated segments of DNA can interfere with normal protein function. Trinucleotide repeats are unstable and can change in length when a gene containing them is passed to the next generation. An increased number of repeats often leads to an earlier age of onset and more severe disease.
Some forms of ataxia are not hereditary and can occur as a result of severe infections or side effects of drugs or alcohol. In many cases, ataxia is a symptom of another neurological disorder rather than a distinct and separate illness.
Hereditary ataxias affect males and females in equal numbers. It is estimated that 150,000 people in the United States are affected by, or at risk for, hereditary ataxia. There is variation among the specific forms of hereditary ataxia as to when they typically first appear. Some ataxias are more common in certain ethnic groups. For example, SCA3 is more common in the Portuguese population, SCA10 is more common in the Mexican population, and DRPLA is more common in Japan.
For a diagnosis of hereditary ataxia, there must be a neurological examination that shows poorly coordinated gait, often combined with uncoordinated finger/hand movements. Difficulty with speech (dysarthria) and uncontrolled eye movements (nystagmus) may also be present. In addition, non-genetic causes of ataxia must be excluded. The hereditary nature of the disorder may be established by a positive family history of ataxia or identifying an ataxia-causing gene mutation.
Molecular genetic testing is currently available for many hereditary ataxias. To find out whether that is the case for a specific type, speak to your physician or a certified genetic counselor or access the GeneTests website (www.genetests.org).
Treatment
Treatment of ataxia is symptomatic and supportive. Continuous medical supervision to avoid potential complications involving the heart, lungs spine, bones and muscles is recommended. Mental functions usually remain unaffected in most forms of hereditary ataxia but emotional strain can affect patients and their families. In such cases, psychological counseling may be helpful.
Physical therapy may be recommended by a physician. In addition, various aids may assist muscular movement. Some drugs may be useful in treating some symptoms of ataxia. Propanalol may be effective against static tremors, for instance. Dantrolene, Baclofen, or Tizanidine may help some patients with muscle spasms of the legs. Genetic counseling will be of benefit for patients and families affected by the hereditary ataxias.
Clinical trials involving the hereditary ataxias are currently in progress, sponsored by the National Institute of Neurological Disorders and Stroke (NINDS) of the National Institutes of Health (NIH).
Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov . All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.
For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:
Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email: [email protected]
Some current clinical trials also are posted on the following page on the NORD website:
https://rarediseases.org/living-with-a-rare-disease/find-clinical-trials/
For information about clinical trials sponsored by private sources, contact:
www.centerwatch.com
For information about clinical trials conducted in Europe, contact:
https://www.clinicaltrialsregister.eu/
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Durr A. Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond. Lancet Neurol 2010; 9:885-894.
Gasser T, Finsterer J, Baets J et al. EFNS Guidelines on the molecular diagnosis of ataxias and spastic paraplegias. Eur J NEurol 2010;17:179-188.
Finsterer J. Ataxias with autosomal, X-choromosal or Maternal Inheritance. Can J Neurol Sci 2009; 36:409-428.
Embirucu EK, Martyn ML, Schlesinger D, Kok F. Autosomal Recessive Ataxia: 20 types and counting. Arq Neuropsiquiatr 2009;67(4):1143-1156.
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The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).
View reportOrphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.
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