Familial amyloidosis with polyneuropathy - Type 1 A NEUROPHYSIOLOGICAL STUDY OF PERIPHERAL NERVE FUNCTION

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Abstract
Consecutive patients (24) with familial amyloidosis and polyneuropathy (type 1), who were at different stages of the disease, were investigated. The electrophysiological features were reported and were compared with those found in other generalized neuropathies; 12 cases were familiar and 12 cases were sporadic. The diagnosis was confirmed by examining the occurrence of amyloid substance in rectal or skin biopsies, or both. Single fiber EMG [electromyography] with fiber density determination showed signs of collateral innervation, prominent in advanced cases, and a disturbance of neuromuscular function similar to that of progressive spinal motoneuron diseases. Action potentials from afferent fibers were not obtained in 91% of the nerves in the lower and 49% of the nerves in the upper extremities. When sensory or motor action potentials were obtained, the conduction velocities were normal or slightly subnormal. A symmetrical axonal degeneration, starting in the legs, was indicated. Familial amyloidosis with polyneuropathy should be suspected in cases of rapidly progressing polyneuropathy of axonal type with onset in middle age, irrespective of whether they are hereditary or not.