ICD+
258300

CEREBELLAR ATAXIA AND ALBINISM


Alternative titles; symbols

OLIVOPONTOCEREBELLAR ATAXIA II, FICKLER-WINKLER TYPE
OPCA II, FICKLER-WINKLER TYPE


Clinical Synopsis
 

Neuro
- Cerebellar ataxia
- Dysarthria
- Head tremor
- Scanning speech
- Lack of involuntary movements
- No sensory loss
Skin
- Albinism in one kindred
Misc
- Onset of cerebellar signs about age 50 years
Radiology
- Olivopontocerebellar atrophy on CT scan
Inheritance
- Autosomal recessive
▲ Close

TEXT

▼ Clinical Features

Skre and Berg (1974) reported a family in which 4 of 11 sibs from a consanguineous mating had total albinism, impaired intellectual development, and adult-onset cerebellar ataxia, with nystagmus, dysarthria, unsteady gait, and incoordination. No sib had only one of the traits. Onset of cerebellar signs occurred at about age 50 years. The authors suggested the ataxia to be of the Dejerine and Thomas (1900) variety of olivopontocerebellar atrophy (Becker, 1966). Berg (1974) suggested that it may be cerebelloparenchymal disorder III, or Norman-type cerebellar hypoplasia (213200); however, that disorder shows onset of ataxia at birth. Skre and Berg (1974) discussed the possibility of the linkage of syndromes or pleiotropism.


▼ REFERENCES

  1. Becker, P. E. Typ Dejerine-Thomas der olivo-ponto-zerebellaren Atrophie. Humangenetik 2: 250-251, 1966.

  2. Berg, K. Personal Communication. Oslo, Norway 1974.

  3. Dejerine, J., Thomas, A. L'atrophie olivo-ponto-cerebelleuse. Nouv. Iconogr. Salpetr. 13: 330-370, 1900.

  4. Fickler, A. Klinische und pathologisch-anatomische Beitraege zu den Erkrankungen des Kleinhirns. Dtsch. Z. Nervenheilk. 41: 306-375, 1911.

  5. Skre, H., Berg, K. Cerebellar ataxia and total albinism: a kindred suggesting pleiotropism or linkage. Clin. Genet. 5: 196-204, 1974. [PubMed: 4838888, related citations] [Full Text]

  6. Winkler, C. A case of olivo-pontine cerebellar atrophy and our conceptions of neo- and palaio-cerebellum. Schweiz. Arch. Neurol. Psychiat. 13: 684-702, 1923.


Creation Date:
Victor A. McKusick : 6/4/1986
Edit History:
carol : 05/08/2021
carol : 05/07/2021
ckniffin : 07/06/2006
joanna : 3/18/2004
jason : 7/14/1994
davew : 7/6/1994
warfield : 4/19/1994
mimadm : 3/11/1994
supermim : 3/17/1992
supermim : 3/20/1990

258300

CEREBELLAR ATAXIA AND ALBINISM


Alternative titles; symbols

OLIVOPONTOCEREBELLAR ATAXIA II, FICKLER-WINKLER TYPE
OPCA II, FICKLER-WINKLER TYPE


MONDO: 0009778;  



TEXT

Clinical Features

Skre and Berg (1974) reported a family in which 4 of 11 sibs from a consanguineous mating had total albinism, impaired intellectual development, and adult-onset cerebellar ataxia, with nystagmus, dysarthria, unsteady gait, and incoordination. No sib had only one of the traits. Onset of cerebellar signs occurred at about age 50 years. The authors suggested the ataxia to be of the Dejerine and Thomas (1900) variety of olivopontocerebellar atrophy (Becker, 1966). Berg (1974) suggested that it may be cerebelloparenchymal disorder III, or Norman-type cerebellar hypoplasia (213200); however, that disorder shows onset of ataxia at birth. Skre and Berg (1974) discussed the possibility of the linkage of syndromes or pleiotropism.


See Also:

Fickler (1911); Winkler (1923)

REFERENCES

  1. Becker, P. E. Typ Dejerine-Thomas der olivo-ponto-zerebellaren Atrophie. Humangenetik 2: 250-251, 1966.

  2. Berg, K. Personal Communication. Oslo, Norway 1974.

  3. Dejerine, J., Thomas, A. L'atrophie olivo-ponto-cerebelleuse. Nouv. Iconogr. Salpetr. 13: 330-370, 1900.

  4. Fickler, A. Klinische und pathologisch-anatomische Beitraege zu den Erkrankungen des Kleinhirns. Dtsch. Z. Nervenheilk. 41: 306-375, 1911.

  5. Skre, H., Berg, K. Cerebellar ataxia and total albinism: a kindred suggesting pleiotropism or linkage. Clin. Genet. 5: 196-204, 1974. [PubMed: 4838888] [Full Text: https://doi.org/10.1111/j.1399-0004.1974.tb01682.x]

  6. Winkler, C. A case of olivo-pontine cerebellar atrophy and our conceptions of neo- and palaio-cerebellum. Schweiz. Arch. Neurol. Psychiat. 13: 684-702, 1923.


Creation Date:
Victor A. McKusick : 6/4/1986

Edit History:
carol : 05/08/2021
carol : 05/07/2021
ckniffin : 07/06/2006
joanna : 3/18/2004
jason : 7/14/1994
davew : 7/6/1994
warfield : 4/19/1994
mimadm : 3/11/1994
supermim : 3/17/1992
supermim : 3/20/1990



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OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2026 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2026 Johns Hopkins University.
Printed: Feb. 4, 2026