Autosomal recessive non-progressive ataxia with an early childhood debut

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Abstract
The case histories and clinical studies were given of 7 consanguineous patients, 4 adults and 3 children, with a rather uniform clinical picture of nonprogressive cerebellar ataxia manifesting in early childhood. Most patients had in addition slight spastic signs, short stature and normal intelligence. There were no signs of other organ pathology, biochemical aberrations, endocrine- or immunopathology. CT [computed tomography]-scan and PEG [pneumoencephalography] show cerebellar atrophy. The pedigree analysis indicated an autosomal recessive mode of inheritance. The condition fell between the ataxic syndromes in the cerebral palsy range and the heredo-ataxias. Until now, no similar disorders seem to have been described.