XXXX . Clinicopathological study of a family.

@entity1 @entity17 @entity5108 @entity2537 @entity1897 @entity6011 @entity528
A family with @entity1897 ( @entity1897 ) type II is described in which 10 affected and 17 unaffected members in three generations were examined. The peak age of onset was in the second decade. In the youngest generation, the proportion of affected to unaffected individuals at risk significantly differed from the expected 50%. There was slight slowing of conduction velocities in 36% of nerves; however, only 3 out of 10 affected members had entirely normal conduction studies. The amplitude of the sensory potentials of median and peroneal nerves was almost uniformly reduced. In all affected @entity1 electromyography of anterior tibial muscles showed signs of @entity6011 . Histological study of two sural nerves and a sciatic nerve and its branches revealed @entity17 with a proximal-to-distal gradient in this fibre loss, clusters of small regenerating fibres, and @entity2537 . Postmortem study of the proband showed loss of anterior horn and dorsal root ganglion neurons in the lumbar and @entity528 . Morphometric evaluation of L5 ventral and dorsal roots revealed a normal number of myelinated fibres, diameter histograms being shifted to the left because of a significant loss of large myelinated fibres and regeneration. These anatomical findings are consistent with the hypothesis that @entity5108 represents a primary neuronopathy affecting motor and sensory neurons.
