Autosomal dominant adult amyotrophic lateral sclerosis. A six generation Dutch family.
A pedigree is reported in which adult autosomal dominant ALS with complete penetrance manifested in 18 individuals through 6 generations. The clinical and neuropathological details are analysed of 13 and 5 persons, respectively, from the 2nd generation onward. Onset was between the ages 19 and 46; duration of disease averaged 1.7 years. The clinical symptoms were predominantly those of initial shoulder girdle and ultimate partial bulbar muscle involvement. Neuropathological findings included, next to classical features, degeneration of various spinal tracts (as revealed most clearly with the Häggqvist procedure) and Purkinje cells loss. As accurate clinicopathological screening and the use of more than just routine staining methods indicate, presently available MND/ALS classifications accommodate actual data insufficiently.