Journal of the neurological sciences
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Hereditary spastic paraplegia with thin corpus callosum (HSP-TCC) is a clinically and genetically heterogeneous neurodegenerative disorder with genetic linkage to multi-loci. Recently pathogenic mutations in the KIAA1840 (now named SPG11) for SPG11, the major HSP-TCC locus, were identified; at least 42 different mutations have been detected. ⋯ This study widens the mutation spectrum of the SPG11 gene and the mutations in the SPG11 gene are also the major causative gene for HSP-TCC in the Chinese Hans. Screening of the whole gene is recommended in clinical practice.
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Multicenter Study Comparative Study Clinical Trial
Effects of admission glucose level on mortality after subarachnoid hemorrhage: a comparison between short-term and long-term mortality.
Admission hyperglycemia is associated with poor functional outcomes and risk of death in nondiabetic patients with acute ischemic stroke. However, there is still some debate about the effects of hyperglycemia in subarachnoid hemorrhage (SAH) patients. The purpose of this study was to assess whether the admission glucose level in patients with SAH is associated with short- and/or long-term mortality. ⋯ We demonstrated that admission hyperglycemia has a harmful effect on short-term mortality, but not with long-term mortality in SAH patients without diabetes. Our results may be used as further evidence to support a hypothesis of harmful effects of hyperglycemia in SAH patients.
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Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder. To determine predictors of survival, we studied different parameters in our ALS Database including 479 patients. The effects of individual prognostic factors of survival were studied using Kaplan-Meier life table. ⋯ However, age, site of onset, forced vital capacity, symptom duration and ALSFRS-R score at the first visit were independent prognostic factors in our population (log-rank p<0.01). The ratio of ALSFRS-R score between first symptom and first examination, during whole disease or within 100 days, correlates with survival time. We conclude that the ratio of ALSFRS-R score within 100 days is a useful parameter for clinical trials and daily clinical work in a tertiary ALS-clinic.