What is the Konigsmark and Weiner classification of olivopontocerebellar atrophy (OPCA)?

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

Working on a somewhat separate but related track, in 1970, Konigsmark and Weiner attempted to bring some order to the heterogeneity found among the OPCAs. [8] The proposed classification was based on clinical, genetic, and anatomic factors, as follows:

  • OPCA-I (Menzel-type OPCA) - Autosomal dominant

  • OPCA type 2 (OPCA-II or Fickler-Winkler type OPCA) - Autosomal dominant

  • OPCA type 3 (OPCA-III or OPCA with retinal degeneration) - Autosomal recessive

  • OPCA type 4 (OPCA-IV or Schut-Haymaker type OPCA) - Autosomal dominant

  • OPCA type 5 (OPCA-V or OPCA with dementia and extrapyramidal signs - Likely autosomal dominant

  • OPCA type X (OPCA-X) - X-linked OPCAs (added to classification at later date)

These are detailed in Table 1 in Causes.

Table 1. Most Common OPCAs With Alternative Names (Open Table in a new window)

OMIM #

OPCA Names

Other Names

Genetic Pattern

Description

#164400

OPCA-1,

OPCA-I,

Menzel type OPCA

SCA-1,

SCA-I,

ADCA-1,

ADCA-I

Gene map locus 6p23 expanded (CAG)n trinucleotide repeat in the ataxin-1 gene (ATXN1; 601556); autosomal dominant; genetic test available

Onset 30-40 years; ataxia, spasticity, dysarthria, ophthalmoplegia, slow saccades, nystagmus, optic atrophy, pyramidal tract signs; rare extrapyramidal signs; some have dementia; neuropathy occurs late [19]

#183090

OPCA-2

SCA-2, ADCA-I

Gene map locus 12q24 expanded (CAG)n trinucleotide repeat in the gene encoding ataxin-2 (ATXN2; 601517); autosomal dominant; genetic test available

Onset in 30s; ataxia, dysarthria, muscle cramps; slow saccades; ophthalmoplegia; peripheral neuropathy; dementia (some); no pyramidal or extrapyramidal features [20]

%258300

OPCA-II, Fickler-Winkler type OPCA

Fickler-Winkler Syndrome

Gene/biochemistry not known; autosomal recessive

Adult-onset; cerebellar ataxia, albinism, impaired intellect; neurological impairments similar to OPCA-I but no involuntary movements or sensory loss [9, 21, 22]

#164500

OPCA-III, OPCA-3, OPCA with retinal degeneration

ADCA-II, SCA-7, OPCA with macular degeneration and external ophthalmoplegia

Gene locus 3p21.1-p12; expanded trinucleotide repeat in the gene encoding ataxin-7 (ATXN7; 607640); autosomal dominant; genetic test available

Onset in mid 20s; initially pigmentary retinal degeneration then ataxia, dysarthria, ophthalmoplegia, slow saccades, pyramidal tract signs [20]

^ 164600 Number now obsolete; considered the same as # 164400 (see first row above)

OPCA-IV, Schut-Haymaker type OPCA

 

Genetics unclear; glutamate dehydrogenase deficiency suspected in some; some cases may be linked to OPCA locus at chromosome 6p; may not be a pure genetic type; now thought to be same as OPCA-I (SCA-1)

Adult-onset ataxia with involvement of cranial nerves IX, X, and XII [23]

164700

OPCA-V, OPCA-5, OPCA with dementia and extrapyramidal signs

This may be the same as SCA-17

Autosomal dominant; genetic test available for SCA-17, but unclear if this is the same

Cerebellar ataxia, rigidity, dementia; neuronal loss in cerebellum, basal ganglia, substantia nigra, olivary nuclei, cerebral cortex [24, 8]

%302500

OPCA-X, OPCA X-linked-1

SCA-X1 (do not confuse this with SAX-1, the locus for hereditary (autosomal dominant) spastic ataxia [%108600])

X-linked, some cases linked to Xp11.21-q21.3; not homogenous; gene(s) not known

Onset in first or second decade and often bedbound by 20s; loss of cerebellar Purkinje cells, inferior olivary cells, myelin loss in spinocerebellar tracts, posterior columns, and corticospinal tracts; gait and limb ataxia, intention tremor, dysmetria, dysdiadochokinesia, dysarthria, and nystagmus; some have peripheral neuropathy [25, 26]


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