Ataxia, Hereditary, Autosomal Dominant

Ataxia, Hereditary, Autosomal Dominant

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report Ataxia, Hereditary, Autosomal Dominant is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • SCA
  • dentato-rubro-pallido-luysian atrophy
  • episodic ataxia
  • progressive cerebellar ataxia, familial
  • spinocerebellar staxia

Disorder Subdivisions

  • Marie's ataxia

General Discussion

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 SCA31. 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.



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.

Symptoms

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 spine. 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



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 mental retardation, short stature



SCA14: Slow progression of disease



SCA15: Very slow worsening of the walk or gait



SCA16: Head tremor



SCA17: Mental function declines



SCA19: Mild ataxia, spasms (myoclonus), mental deterioration and tremor



SCA21: Mild mental deterioration



SCA22: Slow worsening of the walk or gait



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



SCA31: Normal sensation



DRPLA: Rapid, sudden involuntary movements (chorea), seizures, dementia, shocklike spasms (myoclonus)



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



SAX1: Progressive leg spasticity

Causes

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 site of the faulty gene is known or the actual involved gene has been identified. These are listed below for autosomal dominant hereditary ataxias.



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; SCA16SCA17: 6q27; TBP

SCA18: IFRD1

SCA19: SCA19

SCA20: 11q12.2-11q12.3

SCA21: 7p21-p15; SCA21SCA22: 1p21-q23

SCA23: PDYN

SCA25: 2p15-21; SCA25

SCA26: 19p13.3

SCA27: FGF14

SCA28: AFG3L2

SCA29: 3p26

SCA30: 4q34.3-q35.1

SCA31: BEAN1



DRPLA: 12p13.31; ATN1



EA1: 12p13; KCNA1

EA2: 19p13; CACNA1A

2q22-q23; CACNB4

EA3: 1q42

EA5: CACNB4

EA6: SLC1A3



SAX1: 12p13



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.



All individuals carry a few abnormal genes but they cause no problems because they are only present in single copies. Parents who are close relatives (consanguineous) have a higher chance than unrelated parents to both carry the same abnormal gene, which increases the risk to have children with a recessive genetic disorder.



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 sex 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.

Affected Populations

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.

Standard Therapies

Diagnosis

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 specific ones, 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.

Investigational Therapies

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).



National Ataxia Registry (NAR)

A patient registry for individuals in the United States with any type of ataxia or who are at risk for ataxia. Go to www.nationalataxiaregistry.org to register. If you have questions or encounter problems please contact the Research Coordinator by email at nationalataxiaregistry@neurology.ufl.edu or leave a voicemail message with your name and phone number at (352) 273-9195



Clinical and Molecular Correlation in Spinocerebellar Ataxia Type 10 (SCA10)

In this study, blood will be collected from members of families with autosomal dominant hereditary ataxias for detailed molecular genetic analysis. This trial is being conducted in cooperation with Baylor College of Medicine and will take place at the University of Texas Medical Branch at Galveston, Texas.



For further information please contact:



Tetsuo Ashizawa, MD

Baylor College of Medicine

Tel: 409-772-2466



Study ID Numbers are: 199/11796; BCM-H4499





Phenotype/Genotype Correlations in Movement Disorders

This observational study is designed to establish accurate clinical diagnosis of inherited movement disorders in families using the newest technological means in order to study the underlying molecular processes. Patients with good genealogical records are especially desired for this study. If a patient presents with disease about which the molecular basis is well known, then the clinical presentation (phenotype) will be correlated with known chromosomal and molecular characteristics (genotype).



For further information please contact:



Patient Recruitment and Public Liaison Office

National Institute of Neurological Disorders and Stroke (NINDS)

9000 Rockville Pike

Bethesda, MD 20892



Tel: 800-411-1222

e-mail: prpl@mail.cc.nih.gov



Study ID numbers are: 010206; 01-N-0206





Study of Inherited Neurological Disorders

This study is designed to learn more about the natural history of inherited neurological disorders and the role of hereditary in their development. Children and adults may be eligible for this study.



For further information please contact:



Patient Recruitment and Public Liaison Office

National Institute of Neurological Disorders and Stroke (NINDS)

9000 Rockville Pike

Bethesda, MD 30892



Tel: 800-411-1222

e-mail: prpl@mail.cc.nih.gov



Study ID numbers are: 000043; 00-N-0043





RISCA : Prospective Study of Individuals at Risk for SCA1, SCA2, SCA3, SCA6, SCA7

The spinocerebellar ataxias (SCAs) are a clinically and genetically heterogeneous group of autosomal dominantly inherited progressive ataxia disorders. It is estimated that there are 30,000 individuals in the European Community that directly descend from individuals affected by a SCA disorder and thus carry a 50% risk of having inherited an SCA mutation. These at risk individuals provide a unique research opportunity to prospectively study the presymptomatic phase of SCA disorders and to identify the earliest and most sensitive clinical signs and biological markers that herald the onset of the illness. This information is of critical importance for the development of future therapeutic interventions aimed at postponing the clinical onset of ataxia.

Sponsor: Institut National de la Santé Et de la Recherche Médicale, France

Pitié Salpêtrière Hospital; Paris, France, 75013

Contact: Alexandra Durr, MD, PHD alexandra.durr@upmc.fr



Study ID Numbers: NCT01037777





Efficacy of Riluzole in Hereditary Cerebellar Ataxia

The hereditary cerebellar ataxias include diverse neurodegenerative disorders. Hereditary ataxias can be divided into autosomal dominant ataxias (ADCAs), autosomal recessive ataxias (ARCAs), X-linked, and mitochondrial ataxias on the basis of mode of inheritance. The key feature in all these disorders is ataxia typically characterized by poor balance, hand incoordination, postural or kinetic tremor, dysarthria and dysphagia.



The present protocol is aimed at verifying the safety and efficacy of riluzole administration for a longer period, in a larger sample size of patients, with more stringent diagnostic criteria (hereditary cerebellar ataxia), respect to the above pilot study. Sixty patients will be enrolled in a double-blind, placebo-controlled trial. By central randomisation, patients will take 50 mg of riluzole or placebo twice daily for 12 months. Treatment effects will be assessed by comparing the ICARS and Scale for the Assessment and Rating of Ataxia (SARA) before treatment and during therapy at months 3, 6, 9 ,12.



Center for Experimental Neurological Therapies (CENTERS), S. Andrea Hospital, II Faculty of Medicine, "Sapienza" University of Rome Rome, Italy, 00139

Contact: Giovanni Ristori, MD +390633776044 giovanni.ristori@uniroma1.it Contact: Silvia Romano, MD, PhD +390633776044 silvia.romano@uniroma1.it



Study ID Numbers: NCT01104649





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: prpl@cc.nih.gov



For information about clinical trials sponsored by private sources, contact:

www.centerwatch.com

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Resources

WE MOVE (Worldwide Education and Awareness for Movement Disorders)

5731 Mosholu Avenue

Bronx, NY 10471

USA

Tel: (347)843-6132

Fax: (718)601-5112

Email: wemove@wemove.org

Internet: http://www.wemove.org



National Ataxia Foundation

2600 Fernbrook Lane Suite 119

Minneapolis, MN 55447

USA

Tel: (763)553-0020

Fax: (763)553-0167

Email: naf@ataxia.org

Internet: http://www.ataxia.org



NIH/National Institute of Neurological Disorders and Stroke

P.O. Box 5801

Bethesda, MD 20824

Tel: (301)496-5751

Fax: (301)402-2186

Tel: (800)352-9424

TDD: (301)468-5981

Internet: http://www.ninds.nih.gov/



Canadian Association for Familial Ataxias - Claude St-Jean Foundation

3800 Radisson Street Office 110

Montreal

Quebec, H1M 1X6

Canada

Tel: 5143218684

Tel: 8553218684

Email: ataxie@lacaf.org

Internet: http://www.lacaf.org



Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

TDD: (888)205-3223

Internet: http://rarediseases.info.nih.gov/GARD/



Movement Disorder Society

555 E. Wells Street

Suite 1100

Milwaukee, WI 53202-3823

Tel: (414)276-2145

Fax: (414)276-3349

Email: info@movementdisorders.org

Internet: http://www.movementdisorders.org



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc.® (NORD). Cigna members can access the complete report by logging into myCigna.com. For non-Cigna members, a copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html.

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