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BACKGROUND Multiple system atrophy (MSA) has been considered a sporadic disease, without patterns of inheritance. OBJECTIVE To describe the clinical features of 4 multiplex families with MSA, including clinical genetic aspects. DESIGN Clinical and genetic study. SETTING Four departments of neurology in Japan. Patients Eight patients in 4 families with(More)
We report of a woman aged 52 years born to consanguineous parents and seeking treatment for progressive dementia and delusion. Neurologic examination revealed dementia and emotional instability, indifference, and confabulation. There was also mild spasticity of the bilateral lower limbs. MRI revealed diffuse white matter hyperintensity on T2-weighted images(More)
Knee motion was measured with an instrumented spatial linkage (accuracy, linear +/-500 microns; angular, +/-0.5 degree) fixed with intracortical Kirschner wires in five healthy male volunteers (five knees, judged clinically to be normal). This technique allows an accurate description of the relative angular and linear movements between tibia and femur(More)
To elucidate the still unclear mechanism of delayed encephalopathy after carbon monoxide (CO) poisoning, we serially performed single-voxel proton magnetic resonance spectroscopy ((1)H-MRS) and diffusion tensor imaging (DTI) on a 3.0T system and intelligence tests in 2 patients, while they were undergoing hyperbaric oxygenation therapy. The chronological(More)
Neuronal growth cones migrate directionally under the control of axon guidance molecules, thereby forming synapses in the developing brain. The signal transduction system by which a growth cone detects surrounding guidance molecules, analyzes the detected signals, and then determines the overall behavior remains undetermined. In this study, we describe a(More)
BACKGROUND The mechanism underlying nocturnal sudden death in patients with MSA remains unclear. It may be explained by upper airway obstruction, such as vocal cord abductor paralysis; an impairment of the respiratory center, such as Cheyne-Stokes respiration; or an impaired hypoxemic ventilatory response. OBJECTIVE To investigate the mechanism of(More)
: The objective of this study was to measure three-dimensional knee motion during gait in patients with total knee replacements which either retained the posterior cruciate ligament (n = 11), or required sacrifice of the posterior cruciate ligament and replacement of its function with a posterior stabilizing articular surface (n = 9). Clinically meaningful(More)
The objective of this study was to evaluate the effect of muscle force and the posterior cruciate ligament on screw home motion in patients with total knee replacement in a posterior cruciate ligament retaining prosthesis (10 knees) and a posterior cruciate ligament substituting prosthesis (10 knees). Screw home motion was examined with only active(More)
A new algorithm for tractography based on diffusion tensor analysis (DTA) is presented. This method, called EZ-tracing, is based on a new algorithm for analyzing DTA data, lambda chart analysis (LCA), and effectively overcomes the main shortcomings of previous methods for tractography. EZ-tracing is written in MATLAB scripting language (MathWorks, Natick,(More)
In multiple system atrophy (MSA), symptoms associated with dysfunctions of the brainstem and autonomic nervous system are important prognostic factors. We investigated brainstem involvement in 12 patients with MSA with predominant cerebellar symptoms (MSA-C) (mean age, 56.3 +/- 9.9 years, median disease duration, 3 years), and 11 controls (57.6 +/- 12.0(More)