272600
TAPETORETINAL DEGENERATION WITH ATAXIA


TEXT
There appear to be several types. In one variety the ataxia is of the Marie type. Although the inheritance is usually dominant, recessive pedigrees have been observed (Walsh, 1957). In a second form the ataxia is of Friedreich type (229300). The inheritance is recessive. Mixed or more complex types of neurologic involvement with ataxia occur in a third type. As one would expect, this is a heterogeneous category. Refsum disease (266500) and abetalipoproteinemia (200100) give this combination of findings. See also ophthalmoplegia-plus (530000) and olivopontocerebellar atrophy III (164500).

See Also:
Franceschetti et al. (1963)

REFERENCES
1. Franceschetti, A., Francois, J., Babel, J. Les heredo-degenerescences choroido-retiniennes (degenerescences tapeto-retiniennes). Paris: Masson (pub.) 2: 1963.

2. Walsh, F. B. Clinical Neuro-ophthalmology. Baltimore: Williams and Wilkins (pub.) (2nd ed.) : 1957. P. 620.

Creation Date: Victor A. McKusick : 6/4/1986
Edit History: terry : 05/12/2010
davew : 7/28/1994
mimadm : 4/29/1994
warfield : 3/11/1994
carol : 10/19/1992
supermim : 3/17/1992
supermim : 3/20/1990