Document 0704
 DOCN  M95A0704
 TI    X-linked pure familial spastic paraparesis. Characterization of a large
       kindred with magnetic resonance imaging studies.
 DT    9510
 AU    Cambi F; Tartaglino L; Lublin F; McCarren D; Department of Neurology,
       Thomas Jefferson University,; Philadelphia, Pa., USA.
 SO    Arch Neurol. 1995 Jul;52(7):665-9. Unique Identifier : AIDSLINE
       MED/95344332
 AB    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.
 DE    Adolescence  Brain/PATHOLOGY  Child  Child, Preschool  Female  Human
       Magnetic Resonance Imaging  Male  Paraparesis, Tropical
       Spastic/*GENETICS/PATHOLOGY  Pedigree  *X Chromosome  JOURNAL ARTICLE

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