X-linked pure familial spastic paraparesis. Characterization of a large kindred with magnetic resonance imaging studies

F. Cambi, L. Tartaglino, F. Lublin and D. McCarren
Department of Neurology, Thomas Jefferson University, Philadelphia, Pa., USA.

OBJECTIVE: Families with pure X-linked familial spastic paraparesis are rare. We describe a large kindred with the "pure" form of X-linked familial spastic paraparesis with seven clinically affected males. The current study was designed to identify the presence of nuclear magnetic resonance imaging (MRI) abnormalities in the affected individuals. PATIENTS AND METHODS: Twenty-three individuals were examined, and MRIs of the brain were obtained in all seven affected males and two females. RESULTS: The disease is characterized by spastic gait and increased 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 detected in the brain of the single obligate female carrier studied with MRI. CONCLUSIONS: We report previously undescribed (to our knowledge) findings 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 screening study of potential carriers.