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Condition

Olivopontocerebellar Atrophy

Condition 101

What is the definition of 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 o ...

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What are the alternative names for Olivopontocerebellar Atrophy?

  • OPCA

What are the causes for 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.

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.

How is Olivopontocerebellar Atrophy diagnosed?

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.

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.

Is Olivopontocerebellar Atrophy an inherited disorder?

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. 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.

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Latest Research

Latest Advance
Study
  • Condition: Hereditary Spinocerebellar Ataxia
  • Journal: Rehabilitacion
  • Treatment Used: Physical Rehabilitation
  • Number of Patients: 0
  • Published —
The study researched the effects of physical rehabilitation in patients with hereditary spinocerebellar ataxia.
Latest Advance
Study
  • Condition: Spinocerebellar Ataxia Type 38 (SCA38)
  • Journal: Journal of neurology
  • Treatment Used: Oral 26-Week Dietary DHA Supplementation, 650 mg/day
  • Number of Patients: 5
  • Published —
This study reported clinical and ancillary findings in a kindred with spinocerebellar ataxia 38 (gait abnormality; SCA38) treated with oral 26-week dietary DHA supplementation, 650 mg/day.
Latest Advance
Study
  • Condition: Esotropic Patients with Spinocerebellar Ataxia (SCA)
  • Journal: Journal of pediatric ophthalmology and strabismus
  • Treatment Used: Bilateral Medial Rectus (BMR) Recession
  • Number of Patients: 15
  • Published —
This study evaluated the safety and effectiveness of bilateral medial rectus (BMR) recession (weakening of eye muscle during strabismus surgery) for the treatment of patients with spinocerebellar ataxia (SCA).
Latest Advance
Study
  • Condition: Neurological Disorders
  • Journal: American journal of physical medicine & rehabilitation
  • Treatment Used: Whole-Body Vibration
  • Number of Patients: 16
  • Published —
This study investigated whether whole-body vibration could treat motor impairments in patients with neurological disorders.

Clinical Trials

Clinical Trial
Other
  • Status: Recruiting
  • Study Type: Other
  • Participants: 100
  • Start Date: September 15, 2020
Genetic Mechanism of Conserved Ancestral Haplotype in SCA10
Clinical Trial
Procedure
  • Status: Recruiting
  • Study Type: Procedure
  • Participants: 40
  • Start Date: May 28, 2020
Integrated Functional Evaluation of the Cerebellum
Clinical Trial
Dietary Supplement
  • Status: Recruiting
  • Study Type: Dietary Supplement
  • Participants: 40
  • Start Date: February 24, 2020
A Randomised Controlled Trial on the Clinical Efficacy of Oral Trehalose in Patients With Spinocerebellar Ataxia 3: Clinical & FMRI Correlation
Clinical Trial
Behavioral
  • Status: Recruiting
  • Study Type: Behavioral
  • Participants: 32
  • Start Date: January 13, 2020
Effects of Aerobic Exercise Verse Balance Training on Degenerative Cerebellar Disease Using MRI and Gait Analysis