What is olivopontocerebellar atrophy (OPCA)?

Updated: Dec 17, 2018
  • Author: Sombat Muengtaweepongsa, MD, MSc; Chief Editor: Selim R Benbadis, MD  more...
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Answer

Olivopontocerebellar atrophy (OPCA) is a neurodegenerative syndrome characterized by prominent cerebellar and extrapyramidal signs, dysarthria, and dysphagia. Those who study OPCA quickly learn that it is not a single entity, and that its nosology can be confusing. The umbrella term of OPCA includes common sporadic forms and uncommon genetic forms. In the genetic subgroup, all 3 major inheritance patterns (autosomal dominant, autosomal recessive, and X-linked) have been described. The classification scheme for autosomal dominant OPCA overlaps with that of autosomal dominant spinocerebellar atrophies (SCAs) and autosomal dominant cerebellar atrophies (ADCAs). In the sporadic type of OPCA, at least some of the cases are a subset of multiple system atrophy (MSA).

While the classification is seemingly convoluted, there is good reasoning behind the complexity. The study of neurodegenerative ataxias draws from the interplay between clinical observations, neuropathological analysis, and biochemistry and molecular genetics. Historically, however, one had to rely solely on the combination of clinical observation and neuropathology to describe the disorders. Because of this, the recognition of the OPCA as its own entity has evolved over time.

The first named ataxia to emerge as a clinical entity was not an OPCA, but Friedreich ataxia, which Nicolaus Friedreich (1825-1882) managed to separate from numerous other conditions, the most prominent being multiple sclerosis (then called disseminated sclerosis) and neurosyphilis. [1, 2] Thirty years later, Pierre Marie described another grouping of hereditary cerebellar ataxias. [3] Essentially, he proposed a classification to include all the non-Friedreich ataxia cases and suggested the name heredoataxia cerebelleuse. Some of these cases would now be termed OPCAs.

In 1907, Holmes described a family with a purely cerebellar form of ataxia, and the terms Holmes ataxia and ataxia of Holmes stuck to this category for decades. In 1922, Marie, Foix, and Alajouanine reported a similar family that probably had the same disease. [4] Thus, both Holmes ataxia and the ataxia of Marie, Foix, and Alajouanine (sometimes called Marie ataxia) are purely cerebellar ataxias. Neither would be considered a type of OPCA.

In 1900, Dejerine and Thomas identified cases that combined purely cerebellar problems with evidence of brainstem pathology. [5] They coined the term olivopontocerebellar atrophy. The neurologic community accepted this name and collected many cases under this rubric. Gradually, researchers realized that both sporadic and hereditary (mostly autosomal dominant) cases comprised this group, and that, broadly speaking, these cases all had similar neuropathologic features that are described later in this article. Menzel (1890) also had described a similar case. Throughout the years, both Dejerine-Thomas ataxia and Menzel ataxia have been used as terms for certain cases of either hereditary or sporadic OPCA.

Disputes in the clinic, on paper, and in conferences have occurred about the usage of these terms, such as fine distinctions between Menzel ataxia and ataxia of Dejerine-Thomas, but they are mainly now of historical interest only. OPCA type 1 (OPCA-I) is synonymous with SCA type 1 (SCA-1) and is sometimes referred to as Menzel-type ataxia. Dejerine-Thomas ataxia might be used for any of the 6 major phenotypic OPCAs, which are better defined below. However, the authors recommend against applying either of these terms to any new case of ataxia. These terms are mentioned here only so the reader may understand where they came from if they are encountered in other literature.


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