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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)
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)
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)
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)
BACKGROUND The aim of this study was to find biomarkers of disease severity in multiple system atrophy of cerebellar type by imaging disease specific regions using proton magnetic resonance spectroscopy on a 3.0 T system. METHODS We performed proton magnetic resonance spectroscopy separately in the pons and medulla on 12 multiple system atrophy of(More)
Laryngeal stridor is recognized as a characteristic clinical manifestation in patients with multiple system atrophy (MSA). However, the pathogenic mechanisms underlying this symptom are controversial. Neurogenic atrophy of the posterior cricoarytenoid muscle has been identified in cases of MSA, suggesting that laryngeal abductor weakness contributes to(More)
Patients with myotonic dystrophy type 1 (DM1) (n = 14) were compared with healthy controls (n = 13) using 3.0 T proton magnetic resonance spectroscopy ((1)H-MRS) to investigate brain pathophysiology. (1)H-MRS imaging revealed reduced N-acetylaspartate to creatine ratio (NAA/Cr) in multiple brain regions (average 24%), suggesting diffuse brain abnormalities(More)