Louis‐Bar's syndrome (ataxia‐telangiectasia) Neuropathologic

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Abstract
Neuropathologic observations are presented in a case of Louis-Bar''s syndrome (ataxiatelangiectasia) inagirl dying at age 13 years and nine months. The predominant findings were a uniform cerebellar cortical atrophy, involving the Purkinje cell layer and internal granular layer, and demyelination of the posterior columns and dorsal spinocerebellar tracts of the spinal cord. There were no lesions in the cerebrum or brainstem. The findings are compared with those of previously autopsied patients. On the basis of the observed changes in the nervous system the neurologic aspects of the syndrome are considered as a form of spinpcerebellat atrophy. Although the relationship of the well-documented alterations in serum proteins and amtno acid excretion in this syndrome to the nervous system lesions has not been established, a reevaluation of the other forms or expressions of the spinocerebellar degenerations in terms of underlying or associated metabolic defects is suggested.

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