A rare degenerative disease of the brain, predominantly involving the grey matter. It is characterised by acute onset of severe convulsions leading to rapid intellectual and bodily breakdown. Other characteristics are blindness and deafness, myoclonus, spasticity, choroathetosis, cerebellar ataxia, growth retardation, and terminal decortication. Manifests in early childhood and usually causes death within months. In its familial form, the disorder is transmitted as an autosomal recessive trait.
Alpers’ disease was first recognized by Alfons Maria Jakob (1884-1931), and accounts of this were published by three of his students, Souza (Madrid), Freedom (Baltimore), and Alpers in Philadelphia. The eponymic term Alper's disease was introduced by Blackwood, et al in 1963.
- B. J. Alpers:
Diffuse progressive degeneration of the grey matter of the cerebrum.
Archives of Neurology and Psychiatry, Chicago, 1931, 25: 469-505.
- E. Christensen, K. H. Krabbe:
Poliodystrophia cerebri progressiva (infantilis). Report of a case.
Archives of Neurology, Chicago, 1949, 61: 28-43.
- W. Blackwood, P. H. Buxton, J. N. Cumings, D. J. Robertson, S. M. Tucker:
Diffuse cerebral degeneration in infancy (Alpers' disease).
Archives of Disease in Childhood, London, 1963, 38: 193-204.
- E. Christensen, K. Højgaard:
Poliodystrophia cerebri progressiva infantilis.
Acta Neurologica Scandinavica, Copenhagen, 1964, 40: 21-40.