X-LINKED PURE FAMILIAL SPASTIC PARAPARESIS - CHARACTERIZATION OF A LARGE KINDRED WITH MAGNETIC-RESONANCE-IMAGING STUDIES

Objective: Families with pure X-linked familial spastic paraparesis ar e rare. We describe a large kindred with the ''pure'' form of X-linked familial spastic paraparesis with seven clinically affected males. Th e current study was designed to identify the presence of nuclear magne tic resonance imaging (MRI) abnormalities in the affected individuals. Patients and Methods: Twenty-three individuals were examined, and MRI s of the brain were obtained in all seven affected males and two femal es. Results: The disease is characterized by spastic gait and increase d reflexes without Other associated neurologic signs. No male-to-male transmission has been documented in this pedigree. Magnetic resonance images of the brain in affected individuals demonstrate discrete white matter lesions in the periatrial regions, more prominent posteriorly. Similar, although not as extensive, white matter lesions were detecte d in the brain of the single obligate female carrier studied with MRI. Conclusions: We report previously undescribed (to our knowledge) find ings of MRI in pure X-linked familial spastic paraparesis and discuss the use of MRI in the diagnosis of this disorder and as a possible scr eening study of potential carriers.