ATYPICAL ATAXIA-TELANGIECTASIA WITH EARLY-CHILDHOOD LOWER MOTOR-NEURON DEGENERATION - A CLINICOPATHOLOGICAL OBSERVATION IN 3 SIBLINGS

We report three brothers belonging to a consanguineous family and suff ering from ataxia telangiectasia with severe early neurogenic amyotrop hy, Pathological examination of the brain and spinal cord in one of th em showed Purkinje cell loss with empty baskets and numerous axonal sp heroids, dorsal column demyelination with astrocytic proliferation and severe anterior horn cell degeneration. We consider these pathologica l findings to be related to Louis-Bar disease. Anterior horn cell chan ges may be one of the early pathological features in ataxia telangiect asia.