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X‐linked olivopontocerebellar atrophy
Author(s) -
Lutz R.,
Bodensteiner J.,
Schaffer B.,
Gay C.
Publication year - 1989
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1989.tb02966.x
Subject(s) - olivopontocerebellar atrophy , cerebellar ataxia , ataxia , degeneration (medical) , allele , cerebellar degeneration , pathology , parkinsonism , inheritance (genetic algorithm) , cerebellum , genetics , neuroscience , degenerative disease , biology , medicine , disease , gene
We present a kindred with a relatively pure cerebellar degeneration that demonstrates X‐linked recessive inheritance. The unique clinical picture of affected patients in our kindred is characterized by an infantile onset of ataxia; very slow rate of progression; normal strength, reflexes, and sensation; and cerebellar degeneration with involvement of the olive and pons demonstrated by neuroimaging techniques. The distinction between this and other reported olivopontocerebellar degenerations is made on the basis of the clinical features and mode of inheritance. It is not clear if the distinct clinical pattern in this kindred represents variable expression of a previously reported condition, allelic variance of previously reported kindreds, or a separate clinical entity. Molecular analysis, currently underway, may help settle the issue.