National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Olivopontocerebellar atrophy


Other Names:
OPCA
Categories:
Olivopontocerebellar atrophy (OPCA) is a term used for a progressive condition characterized by the degeneration of nerve cells (neurons) in specific areas of the brain.[1] OPCA can be viewed as a finding of  several diseases, and indicates a form of progressive ataxia (abnormal or uncontrolled movements) distinguished by characteristic findings in brain imaging studies and at autopsy (pontine flattening and cerebellar  atrophy). It was traditionally divided in hereditary or genetic OPCA and sporadic OPCA. Currently, most of the major forms of hereditary OPCA refer to disorders that overlap with spinocerebellar ataxia (SCA), which is a neurological disorder characterized by ataxia. The sporadic forms are considered now to be a form of multiple system atrophy (MSA).[1] OPCA may also occur in people with prion disorders and inherited metabolic diseases.[1] The main symptom is clumsiness that slowly gets worse. Other symptoms may include problems with balance; speech or swallowing problems; difficulty walking; abnormal eye movements; muscle spasms; and neuropathy. Whether OPCA is inherited (and the inheritance pattern) depends on the underlying cause, if known.[2] There is no cure for OPCA, and management aims to treat symptoms and prevent complications.[1][2][3]
Last updated: 1/11/2017
Olivopontocerebellar atrophy (OPCA) can occur in association with disorders caused by inherited genetic mutations (hereditary OPCA), or it can be sporadic. Many specific genes have been identified for the genetic forms, although exactly how each genetic abnormality leads to the specific symptoms of OPCA often is not known.[4] Sporadic OPCA refers to disorders for which there is not yet evidence of a hereditary component or genetic cause.[2]

The subtypes of hereditary OPCA and their genetic causes (when known) can be viewed in tables on Medscape Reference's website here by scrolling down or clicking on "Tables" in the left-hand menu.
Last updated: 1/10/2017
Olivopontocerebellar atrophy (OPCA) may be associated with conditions that are inherited (genetic), or it may occur sporadically.

Genetic forms of OPCA may be inherited in an autosomal dominant, autosomal recessive, or X-linked manner.[2][4] The inheritance pattern depends on the specific genetic cause. For example, OPCA associated with spinocerebellar ataxia 3 is caused by a mutation in the ATXN3 gene and is inherited in an autosomal dominant manner.[1] Most types of inherited OPCA are associated with spinocerebellar ataxias that follow autosomal dominant inheritance.[2]
 
Sporadic OPCA refers to when the condition occurs for unknown reasons, or when there is no evidence of a genetic basis.[2] Some people with sporadic OPCA will eventually develop multiple system atrophy (MSA).[2]

People with a personal or family history of OPCA are encouraged to speak with a genetic counselor or other genetics professional. A genetics professional can evaluate the family history; address questions and concerns; assess recurrence risks; and facilitate genetic testing if desired.
Last updated: 1/10/2017
A diagnosis of olivopontocerebellar atrophy (OPCA) may be based on a thorough medical exam; the presence of signs and symptoms; imaging studies; various laboratory tests; and an evaluation of the family history.[2][3]

MRI of the brain may show characteristics of OPCA, such as specific changes in the size of affected parts of the brain.[3] This is more likely as the disease progresses; it is possible to have OPCA and have a normal brain MRI (especially within the first year of symptom onset).[3][4]

Hereditary OPCA may be suspected based on having a family history, and may be diagnosed by genetic testing (when available) for the condition suspected or known to be present in the family.[2] Sporadic OPCA may be diagnosed if hereditary forms of OPCA, and other conditions associated with OPCA, have been ruled out.[2]
Last updated: 4/4/2016

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Olivopontocerebellar atrophy. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Olivopontocerebellar atrophy. Click on the link to view a sample search on this topic.

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  1. NINDS Olivopontocerebellar Atrophy Information Page. NINDS. April 16, 2014; http://www.ninds.nih.gov/disorders/opca/opca.htm.
  2. Olivopontocerebellar Atrophy. NORD. 2012; http://rarediseases.org/rare-diseases/olivopontocerebellar-atrophy/.
  3. Joseph V. Campellone. Olivopontocerebellar atrophy. MedlinePlus. July 27, 2014; http://www.nlm.nih.gov/medlineplus/ency/article/000758.htm.
  4. Christina J Azevedo. Olivopontocerebellar Atrophy. Medscape Reference. November 11, 2014; http://emedicine.medscape.com/article/1151013-overview.