A new spinocerebellar degenerative syndrome has been described in 14 patients from 10 families and reported from the Hopital des Enfants Malades, Paris, France; Montreal Neurological Institute, Canada; Rashid Hospital, Dubai, UAE; Tokyo Women's Medical College, Japan; and University of Colorado Medical School, Boulder, CO. Six of the cases had been reported previously in the Japanese literature and in abstracts. The clinical features included onset between 2 and 7 years of age, ataxia, ocular motor apraxia, choreoathetosis, depressed or absent deep tendon reflexes, dysarthria, masklike facies, intention tremor, and mildly subnormal intellectual function in one half the patients. CT was normal in 6 and showed mild vermal atrophy in 1. None had conjunctival telangiectasia or abnormal immunoglobulins and a diagnosis of ataxia telangiectasia was considered unlikely. The syndrome was probably genetically determined with an autosomal mode of inheritance; it involved both sexes with consanguinity in 6 of 10 sibships. [1]

COMMENT. The differential diagnosis includes Cogan's ocular motor apraxia and ataxia telangiectasia. The authors, of whom 4 are already distinguished by eponymous syndromes (Aicardi J, Andermann E and F, and Fukuyama Y), report a specific neurodegenerative syndrome of genetic origin with patients originating from widely separate geographical areas and from different ethnic backgrounds. Ataxia, areflexia, and ocular muscle paralyses are also featured in the Fisher syndrome.