What are the autosomal dominant cerebellar atrophy (ADCA) equivalents for olivopontocerebellar atrophy (OPCA)?

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

Finally, the question of how the OPCAs and SCAs fit with the 2 other systems of terminology is addressed: (1) the ADCAs and (2) the individual eponyms that honor the various physicians from the past who described the conditions that are now better (though still imperfectly) understood today.

Table 4 shows these correspondences. The first row consists of the SCAs because these represent the most accurate and finely divided category. The reader can then go down each column and find the ADCA number, the OPCAs, and the individual eponyms that are essentially equivalent.

In using this table, realize that all of these terms have been used inconsistently through the years. The SCAs are most closely linked to the actual genes involved. Although the ADCAs, with only 3 categories, represent a rather coarse division of these conditions, their phenotypic descriptions are rather simple and they have generally been used consistently in those cases in which they have been used. The use of the OPCA terms for diagnosis has been less consistent and it has been common to use the designation OPCA somewhat loosely. Finally, the eponyms have not been used very consistently, with the exception of Machado-Joseph disease (SCA-3) (which is not an OPCA). Thus, as one moves down the columns in the table, the names become less reliable.

The authors recommend against using the eponyms for fresh diagnoses. The ADCA and OPCA categories may be helpful for formulating ideas about the diagnosis, but one should try to think in terms of the SCA system in order to more readily connect the patient to a proper genetic diagnosis.

Table 4. Dominant Ataxia Nomenclature (Open Table in a new window)

SCAs

SCA-1

SCA-2

SCA-3

SCA types 8, 12, 17, 25, 27, 28, (13)

SCA-7

SCAs 4, 5, 6, 10, 11, 14, 15, 22, 26, (13)

OPCAs

OPCA-1, OPCA-IV

OPCA-2

No OPCA matching SCA-3

No OPCA matching above SCAs

OPCA-III

No OPCA matching above SCAs

ADCAs

ADCA-1

ADCA-1

ADCA-1

ADCA-1

ADCA-2

ADCA-3

Eponyms

Menzel type OPCA (or Menzel ataxia), Schut- Haymaker type OPCA, Dejerine-Thomas ataxia

Holguin type ataxia, Wadia-Swami syndrome, Dejerine-Thomas ataxia

Machado-Joseph disease, Dejerine-Thomas ataxia

Dejerine-Thomas ataxia

Sanger-Brown ataxia§, Dejerine-Thomas ataxia

Holmes ataxiall, ataxia of Marie, Foix, and Alajouanine, Marie ataxia, Nonne syndrome#

*SCA-13 is often said to not be part of ADCA classification. It is mainly a childhood mental retardation/ataxia syndrome. The ataxia is not accompanied by significant brainstem pathology, similar to ADCA-3. The mental retardation can be interpreted as a dementia, putting it in ADCA-1.

OPCA-IV (Schut-Haymaker OPCA) is now thought to be an SCA-1, which makes it OPCA-I (ie, strictly speaking, OPCA-IV no longer exists).

Menzel OPCA is sometimes taken much more broadly as virtually any OPCA except perhaps OPCA-III. Alternatively, it is taken as essentially the same as ADCA-1. In addition, it is sometimes applied to sporadic OPCAs that have similar presentations to any of the syndromes under ADCA-1.

§ Sanger-Brown ataxia is sometimes taken more broadly. As expansively defined, the term could be used for virtually any of these.

ll Holmes ataxia is sometimes applied to pure sporadic cerebellar ataxia of late onset.

This is sometimes used for most any of these syndromes, which seems to be the sense in which it was used in the original 1893 paper by Marie.

# This is a very obscure term. It is most commonly used for conditions fitting ADCA-3.

**The authors found no papers calling SCA-3 Dejerine-Thomas ataxia, but Dejerine-Thomas ataxia is so broadly defined, the term could possibly be applied to SCA-3.


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