Progressive poliodystrophy (alpers') disease) with a defect in cytochrome in muscle: a report of two unrelated patients

Oxidative Phosphorylation Diseases

“…Early development is normal, with symptoms beginning in childhood (Hart et al, 1977;Montagna et al, 1988;Ichiki et al, 1988;Yoda et al, 1984;Kobayashi et al, 1986Kobayashi et al, , 1987bBogousslavsky et al, 1982; Pavlakis et al, 1984;Rowland, 1983), adolescence (Skoglund, 1979; M. Yamamoto et al, 1987;Goda et al, 1987a,b;Hasuo et al, 1987; Kobayashi et al, 1982;Hayes et al, 1985;Prick et al, 1983), or adulthood (Driscoll et al, 1987; T. Yamamoto et al, 1984;Ishitsu et al, 1987;Hasuo et al, 1987).…”

“…Yamamoto et al, 1987;Berkovic et al, 1987a), several informative pedigrees have characteristics that are compatible with an mtDNA mutation. Although the size of these pedigrees precludes exclusion of Mendelian inheritance, the female transmission of the syndrome and variable disease expression in the pedigrees argue for maternal transmission of a heteroplasmic mtDNA mutation (Montagna et al, 1988;Ishitsu et al, 1987;Driscoll et al, 1987;Prick et al, 1983;T. Yamamoto et al, 1984;Hart et al, 1977) (Fig.…”

“…Alpers' disease is diagnosed by characteristic neuropathologic lesions accompanied by spongiform or microcystic cerebral degeneration (Prick et al, 1981(Prick et al, , 1983Gabreels et al, 1984). Both Leigh's and Alpers' disease have CNS lesions with gliosis, spongiosis, necrosis, or capillary proliferation (Pincus, 1972;Montpetit et al, 1971;Jellinger and Seitelberger, 1970;Greenhouse and Neubuerger, 1964;Egger et al, 1987;Sandbank and Lerman, 1972).…”

“…The prominent myoclonus in this disorder emphasizes the extensive cortical involvement. Biochemical abnormalities identified for this disorder include decreased NADH utilization (Fischer et al, 1986;Gabreels et al, 1984), decreased pyruvate utilization (Gabreels et al, 1984), and decreased cytochrome aa3 (Prick et al, 1983;Gabreels et al, 1984).…”

Fatal infantile mitochondrial myopathy and renal dysfunction caused by cytochrome c oxidase deficiency: Immunological studies in a new patient

“…, 291 or as progessive sclerosing poliodystrophy (Alper's disease) [23], and partial defects have been seen in cases of progressive external ophthalmoplegia [13,18,20) and in 2 patients with encephalomyopathy and peripheral neuropathy 12 1 ]. Immunological and immunocytochemical studies using antibodies against purified human cytochrome c oxidase may help clarify the different molecular defects underlying the various phenotypes.…”