A Dutch family with autosomal dominant pure spastic paraparesis (Strümpell's disease)

Abstract

Families with "pure" hereditary spastic paraparesis of late onset have rarely been reported. Since the original article by Strümpell in 1880, many "complicated" forms of the disorder have been reported, and the question as to whether a "pure" form exists still arises from time to time. We present a Dutch family with "pure" hereditary spastic paraparesis, involving 15 affected members in three generations. The mode of inheritance was autosomal dominant, with onset of clinical signs in the fourth or fifth decade. Severity of the disease was mild; only a few of them became chairbound in the end. There were no sensory symptoms. Mild sphincter disturbances were mentioned by six patients. A review of the reports on Dutch families is given and arguments in favour of the existence of "pure" hereditary spastic paraparesis are discussed.