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Ataxia—ocular motor aprilaxia: A syndrome mimicking ataxia‐telangiectasia
Author(s) -
Aicardi Jean,
Barbosa Célia,
Andermann Eva,
Andermann Frederick,
Morcos Rami,
Ghanem Qais,
Fukuyama Yukio,
Awaya Yutaka,
Moe Paul
Publication year - 1988
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410240404
Subject(s) - ataxia telangiectasia , choreoathetosis , ataxia , medicine , pathology , telangiectasia , dermatology , dystonia , genetics , biology , dna , dna damage , psychiatry
We report 14 patients with a slowly progressive syndrome featuring ataxia, choreoathetosis, and ocular motor Aprilaxia in both the horizontal and vertical planes. Although the neurological signs were indistinguishable from those of ataxia‐telangiectasia, the onset tended to be later and none of the patients had evidence of multisystemic involvement. Specifically, there was no tendency to frequent infections, and immunoglobulins, α‐fetoprotein, T‐ and B‐lymphocyte Marchkers, and chromosomes 7 and 14 were normal in all tested patients. The simultaneous absence of telangiectasias and of other nonneurological manifestations made ataxia‐telangiectasia an unlikely diagnosis. We suggest that these patients suffer from an unusual type of spinocerebellar degeneration. This syndrome has been observed in different populations from three continents, with a genetic pattern suggesting recessive autosomal inheritance.