Communicated by Francesco Giannelli
(NCV) were in the normal range, and there was no finding of nerve conduction block. His younger brother had also been affected by MND. He had developed muscle weakness of the right upper limb at age 52, followed by muscle weakness and atrophy of all limbs, and bulbar signs. The deep tendon reflex had decreased in all limbs, and plantar responses had been flexor. Although the needle EMG showed muscle denervation, both motor and sensory NCVs were also normal. His symptoms had rapidly progressed, and he died of respiratory failure about nine months after the onset. Because these two patients did not show any upper motor neuron signs through the course of the disease, they were clinically diagnosed as adult spinal muscular atrophy. Their father and mother died of disorders other than neurological diseases at age 84 and 49, respectively. The other relatives of the patients did not have similar neurological diseases. Because there were no affected females in this family, the diagnosis of X-linked spinal and bulbar muscular atrophy (SBMA) was not completely excluded. However, SBMA was ruled out in the proband from the result of DNA analysis on SBMA (La Spada et al., 1991).
Total RNA was extracted from peripheral blood leukocytes obtained from the proband with an informed consent. As our previous report (Ikeda et al., 1995), cDNA for the Cu/Zn SOD mRNA was synthesized with reverse transcriptase-polymerase chain