Arch Neurol Chicago
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Arch Neurol Chicago · Aug 2007
Multicenter StudyPhenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes.
To describe the phenotypic spectrum of dysferlin (DYSF) gene mutations (which cause dysferlinopathies, autosomal recessive muscular dystrophies) in patients with a dysferlin protein deficiency. ⋯ In addition to typical Miyoshi myopathy and limb-girdle muscular dystrophy type 2B, dysferlinopathies are a clinically heterogeneous group of disorders ranging from asymptomatism to severe functional disability.
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Arch Neurol Chicago · Aug 2007
Determinants of disability in multiple sclerosis at various disease stages: a multiparametric magnetic resonance study.
To investigate whether diffusion-tensor magnetic resonance imaging and whole brain N-acetylaspartate (WBNAA) proton magnetic resonance spectroscopy can provide complementary pieces of information to achieve a better understanding of the factors associated with disability in multiple sclerosis (MS). ⋯ The accumulation of macroscopic lesions and normal-appearing white matter damage seems to occur mainly during the earliest clinical phases of MS, whereas pathological features of GM may be a hallmark of the late progressive stage of the disease. This supports the notion of MS as a "2-stage" disease.
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Arch Neurol Chicago · Aug 2007
Impact of abnormal diffusion-weighted imaging results on short-term outcome following transient ischemic attack.
To characterize short-term prognoses among patients with transient ischemic attack (TIA) and normal diffusion-weighted imaging (DWI) results, TIA patients with abnormal DWI results (transient symptoms associated with infarction [TSI]), and patients with completed ischemic stroke (IS). ⋯ Transient symptoms associated with infarction is associated with a greater rate of early recurrent TIA and stroke than both IS and TIA with normal DWI results. These data suggest that TSI may be a separate clinical entity with unique prognostic implications.