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Genetics Home Reference: your guide to understanding genetic conditions
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Autosomal recessive cerebellar ataxia type 1

(often shortened to ARCA1)
Reviewed October 2010

What is ARCA1?

Autosomal recessive cerebellar ataxia type 1 (ARCA1) is a condition characterized by progressive problems with movement. Signs and symptoms of the disorder first appear in early to mid-adulthood. People with this condition initially experience impaired speech (dysarthria), problems with coordination and balance (ataxia), or both. They may also have difficulty with movements that involve judging distance or scale (dysmetria). Other features of ARCA1 include abnormal eye movements (nystagmus) and problems following the movements of objects with their eyes. The movement problems are slowly progressive, often resulting in the need for a cane, walker, or wheelchair.

How common is ARCA1?

More than 60 people have been diagnosed with ARCA1. Most of these individuals are from the Beauce and Bas-Saint-Laurent regions of Quebec, Canada.

What genes are related to ARCA1?

Mutations in the SYNE1 gene cause ARCA1. The SYNE1 gene provides instructions for making a protein called Syne-1 that is found in many tissues, but it seems to be especially critical in the brain. Within the brain, the Syne-1 protein appears to play a role in the maintenance of the cerebellum, which is the part of the brain that coordinates movement. The Syne-1 protein is active (expressed) in Purkinje cells, which are located in the cerebellum and are involved in chemical signaling between nerve cells (neurons).

SYNE1 gene mutations that cause ARCA1 result in an abnormally short, dysfunctional version of the Syne-1 protein. The defective protein is thought to impair Purkinje cell function and disrupt signaling between neurons in the cerebellum. The loss of brain cells in the cerebellum causes the movement problems characteristic of ARCA1, but it is unclear how this cell loss is related to impaired Purkinje cell function.

Related Gene(s)

Changes in this gene are associated with autosomal recessive cerebellar ataxia type 1.

  • SYNE1

How do people inherit ARCA1?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Where can I find information about diagnosis or management of ARCA1?

These resources address the diagnosis or management of ARCA1 and may include treatment providers.

  • Gene Review: SYNE1-Related Autosomal Recessive Cerebellar Ataxia (http://www.ncbi.nlm.nih.gov/books/NBK1379)
  • Genetic Testing Registry: Spinocerebellar ataxia, autosomal recessive 8 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1853116)
  • Johns Hopkins Medicine Department of Neurology and Neurosurgery: What is Ataxia? (http://www.hopkinsmedicine.org/neurology_neurosurgery/centers_clinics/movement_disorders/ataxia/conditions/index.html)
  • MedlinePlus Encyclopedia: Dysarthria--Care (http://www.nlm.nih.gov/medlineplus/ency/patientinstructions/000033.htm)

You might also find information on the diagnosis or management of ARCA1 in Educational resources (http://www.ghr.nlm.nih.gov/condition/autosomal-recessive-cerebellar-ataxia-type-1/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/autosomal-recessive-cerebellar-ataxia-type-1/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about ARCA1?

You may find the following resources about ARCA1 helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for ARCA1?

  • autosomal recessive spinocerebellar ataxia 8
  • recessive ataxia of Beauce

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about ARCA1?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding ARCA1?

ataxia ; autosomal ; autosomal recessive ; cell ; cerebellum ; dysarthria ; dysmetria ; expressed ; gene ; inherited ; nystagmus ; protein ; Purkinje cells ; recessive

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Dupré N, Gros-Louis F, Chrestian N, Verreault S, Brunet D, de Verteuil D, Brais B, Bouchard JP, Rouleau GA. Clinical and genetic study of autosomal recessive cerebellar ataxia type 1. Ann Neurol. 2007 Jul;62(1):93-8. (http://www.ncbi.nlm.nih.gov/pubmed/17503513?dopt=Abstract)
  • Gene Review: SYNE1-Related Autosomal Recessive Cerebellar Ataxia (http://www.ncbi.nlm.nih.gov/books/NBK1379)
  • Gros-Louis F, Dupré N, Dion P, Fox MA, Laurent S, Verreault S, Sanes JR, Bouchard JP, Rouleau GA. Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia. Nat Genet. 2007 Jan;39(1):80-5. Epub 2006 Dec 10. (http://www.ncbi.nlm.nih.gov/pubmed/17159980?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: October 2010
Published: September 29, 2014