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Olivopontocerebellar Atrophy

Table of Contents

Olivopontocerebellar Atrophy

OPCA; Cerebellar Multiple System Atrophy; Multiple System Atrophy - Cerebellar Subtype; MSA-C; Olivopontocerebellar Degeneration

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. Explore symptoms, causes, and genetics of this rare condition.

Brain Highlighting Cerebellum

Image by TheVisualMD

Summary

Labeled brain

Image by My very own brain. fMRI at Mara, Bielefeld, Germany. Author: Christian R. Linder

Labeled brain

Image by My very own brain. fMRI at Mara, Bielefeld, Germany. Author: Christian R. Linder

What Is Olivopontocerebellar Atrophy?

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.

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). OPCA may also occur in people with prion disorders and inheritedmetabolic diseases.

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.

There is no cure for OPCA, and management aims to treat symptoms and prevent complications.

Source: Genetic and Rare Diseases (GARD) Information Center

Additional Materials (2)

Human brainstem Sagittal view

Human brainstem. Sagittal view. The brainstem is divided rostrocaudally into midbrain (orange), metencephalon (green), and medulla oblongata (blue).

Image by Grinberg LT, Rueb U and Heinsen H/Wikimedia

Brain bulbar region

The corticobulbar (or corticonuclear) tract is a white matter pathway connecting the cerebral cortex to the brainstem (the term "bulbar" referring to the brainstem). The 'bulb' is an archaic term for the medulla oblongata. In clinical usage, it includes the pons as well. See also [1] for reference.

Image by /Wikimedia

Human brainstem Sagittal view

Grinberg LT, Rueb U and Heinsen H/Wikimedia

Brain bulbar region

/Wikimedia

Causes

Mutation

Image by National Human Genome Research Institute (NHGRI)

Mutation

A mutation is a change in a DNA sequence. Mutations can result from DNA copying mistakes made during cell division, exposure to ionizing radiation, exposure to chemicals called mutagens, or infection by viruses.

Image by National Human Genome Research Institute (NHGRI)

What Causes Olivopontocerebellar Atrophy?

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. Sporadic OPCA refers to disorders for which there is not yet evidence of a hereditary component or genetic cause.

Source: Genetic and Rare Diseases (GARD) Information Center

Inheritance

Inheritance

Image by TheVisualMD

Inheritance

Infant and his chromosomes

Image by TheVisualMD

Is Olivopontocerebellar Atrophy Inherited?

Genetic forms of OPCA may be inherited in an autosomal dominant, autosomal recessive, or X-linked manner. 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. Most types of inherited OPCA are associated with spinocerebellar ataxias that follow autosomal dominant inheritance.

Sporadic OPCA refers to when the condition occurs for unknown reasons, or when there is no evidence of a genetic basis. Some people with sporadic OPCA will eventually develop multiple system atrophy (MSA).

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.

Source: Genetic and Rare Diseases (GARD) Information Center

Additional Materials (1)

Inheritance

Multifactorial Inheritance - A pattern of inheritance of a trait that includes the contributions from more than one gene. Inheritance Patterns - The different ways GENES and their ALLELES interact during the transmission of genetic traits that effect the outcome of GENE EXPRESSION. (NCBI/NLM/NIH)

Image by Thomas Shafee / TheVisualMD

Inheritance

Thomas Shafee / TheVisualMD

Diagnosis

Ataxia - Brain MRI images of the younger patient (II-14) at age 25 years old, showing cerebellar atrophy

Image by Nicolaou et al.

Ataxia - Brain MRI images of the younger patient (II-14) at age 25 years old, showing cerebellar atrophy

Brain MRI images of the younger patient (II-14) at age 25 years old, showing cerebellar atrophy

Image by Nicolaou et al.

How Is Olivopontocerebellar Atrophy Diagnosed?

MRI of the brain may show characteristics of OPCA, such as specific changes in the size of affected parts of the brain. 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).

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. Sporadic OPCA may be diagnosed if hereditary forms of OPCA, and other conditions associated with OPCA, have been ruled out.

Source: Genetic and Rare Diseases (GARD) Information Center

Related HealthJournals

Multiple System Atrophy

Multiple system atrophy (MSA) is a progressive brain disorder that affects movement and balance and disrupts the function of the autonomic nervous system. Learn what are the common symptoms and how it is treated.

Neurons

Neurons are the cells that make up nervous tissue. They are responsible for the chemical and electrical signals that communicate information about sensations, that produce movements, and induce thought processes within the brain. Learn more about neurons and how they work.

Ataxia

Ataxia often occurs when parts of the nervous system that control movement are damaged. People with ataxia experience a failure of muscle control in their arms and legs, resulting in a lack of balance and coordination or a disturbance of gait. Learn more about ataxia, its causes, and treatment.

Cerebellar Disorders

Cerebellar disorders are problems with the cerebellum, an area of the brain that controls coordination and balance. Ataxias is one of these disorders.

Cerebellum

The cerebellum, as the name suggests, is the “little brain.” The cerebellum is largely responsible for comparing information from the cerebrum with sensory feedback from the periphery through the spinal cord. It accounts for approximately 10 percent of the mass of the brain.

Rare Diseases

A rare disease is generally considered to be a disease that affects fewer than 200,000 people in the United States at any given time. There are more than 10,000 rare diseases. Many rare conditions are life-threatening and most do not have treatments. Learn more about rare diseases.

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Olivopontocerebellar Atrophy

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. Explore symptoms, causes, and genetics of this rare condition.

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