Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy

We have recently observed a large pedigree with a new rare autosomal domina nt spastic paraparesis. In three subsequent generations, 13 affected indivi duals presented with bilateral cataracts, gastroesophageal reflux with pers istent vomiting, and spastic paraparesis with amyotrophy. Bilateral catarac ts occurred in all affected individuals, with the exception of one patient who presented with a chorioretinal dystrophy, whereas clinical signs of spa stic paraparesis showed a variable expressivity. Using a genomewide mapping approach, we mapped the disorder to the long arm of chromosome 10 on band q23.3-q24.2, in a 12-cM chromosomal region where additional neurologic diso rders have been localized. The spectrum of phenotypic manifestations in thi s family is reminiscent of a smaller pedigree, reported recently, confirmin g the possibility of a new syndrome. Finally, the anticipation of symptoms suggests that an unstable trinucleotide repeat may be responsible for the c ondition.