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X‐linked cerebellar ataxia
Author(s) -
Shokeir M. H. K.
Publication year - 1970
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.1399-0004.1970.tb01639.x
Subject(s) - ataxia , cerebellar ataxia , cerebellum , autosomal recessive inheritance , cerebellar diseases , inheritance (genetic algorithm) , medicine , intellectual disability , pediatrics , neuroscience , psychology , genetics , biology , psychiatry , gene
Three independent families showing X‐linked recessive inheritance of a rare form of cerebellar ataxia are presented. The disease is clinically distinct from both Friedreich and Marie ataxias. The age of onset is between 16–21 years and the course is progressive until the age of 30 when further deterioration is arrested. The manifestations are predominantly cerebellar with minimal pyramidal and no posterior column affection. Intellectual functions remain unimpaired. A case of female Turner's who is also a victim of this disorder is presented.