[Familial form of bulbo-spinal amyotrophy in the adult]

Three siblings, a male and two females, respectively 47, 51 and 60 years-old, were investigated, since they had, like their father, labioglossopharyngeal paralysis, fasciculations and predominant cervico-facial muscular atrophy. No pyramidal signs were present. The disorder was fatal within 9, 5 and 14 months. In two cases the pathological examination showed a selective involvement of the peripheral motor neuron whereas the central motor neuron was normal. The main abnormalities consisted of abundant chromatolytic neurons and cell loss and were mostly present in the brain stem motor neurons. Immunocytochemical studies with antibodies against neurofilaments and protein-tau, and electron microscopic technics were performed on cervical motor neurons. Neurogenic muscular atrophy was massive in the tongue, less predominant in the diaphragm and psoas and were similar to lesions present in the peroneus brevis muscle. Transmission was autosomal dominant. We suggest that this clinico-pathological syndrome should be considered as a variety of the adult bulbo-spinal muscular atrophies.