Roussy-Lévy Syndrome: Report of a Kindred and Discussion of the Nosology

The details of a clinical and laboratory investigation of a family in which ataxia was present in members of three generations are presented. The major features of this illness include the onset of gait disorder in the first two years of life, distal weakness, areflexia, impaired deep sensibility, tremor of the hands, pes cavus, and a slowly progressive course. The disease in this family appears to be transmitted by an autosomal dominant gene. All laboratory data, except for low levels of serum triglycerides, were normal and provided no insight into the biochemical defect present in this family. The clinical features of the illness in this family are almost identical to those of a previous family reported by Roussy and Lévy. A brief discussion of the relevant literature concerning the Roussy-Lévy syndrome is presented. The authors believe that the present family and certain other families recorded in the literature are sufficiently similar to each other and distinct from other heredo-familial ataxias to justify their nosological separation. A satisfactory classification of the various forms of hereditary ataxia can be established only by the determination of the basic biochemical defect at the molecular level in the case of each homogenous genetic disorder. Meanwhile, a classification based upon a careful study of the clinical, pathological and genetic similarities and differences existing between families with ataxia will provide the most meaningful data now available for genetic counseling and as a guideline for research activities.