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Objective-Autosomal recessive hereditary spastic paraplegia (ARHSP) with thin corpus callosum (TCC) is a common form of complex HSP. The genetic lesion underlying ARHSP-TCC was localized to chromosome 15q13-q15 and given the designation SPG11. Recently the gene encoding spatacsin (KIAA1840), has been shown to contain mutations that underlie the majority of ARHSP-TCC cases.Methods-Here we present a complete analysis of the 40 coding exons of this gene in patients with sporadic (n = 25) or familial (20 probands) complex hereditary spastic paraplegia with and without thinning of the corpus callosum.Results-We identified seven mutations, including deletions, insertions and nonsense mutations, which were all predicted to lead to premature truncation of the protein.Conclusion-We conclude that mutations on KIAA1840 are frequent in complex ARHSP but an infrequent cause of sporadic complex HSP.

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BackgroundEssential tremor (ET) is one of the most common neurologic disorders. Aside from underlying susceptibility genes, recent studies have also begun to focus on environmental toxic factors. Yet there remains a paucity of information on such factors, making studies of environmental factors important. A recent study in New York City found blood lead concentrations to be elevated in ET cases compared with matched controls. Chronic exposure to lead produces cerebellar damage, and this could predispose individuals to develop ET.ObjectiveThe aim of this study was to determine whether the elevation in blood lead concentrations observed in a single study in New York was similarly present in ET cases sampled from a completely different geographic region.MethodsBlood lead concentrations were measured in 105 ET cases and 105 controls at Mersin University, Mersin, Turkey.ResultsThe median blood lead concentration was 2.7 μg/dL in ET cases compared with 1.5 μg/dL in controls (p < 0.001). In an unadjusted logistic regression model, blood lead concentration was associated with diagnosis: odds ratio (OR) = 4.01; 95% confidence interval (CI), 2.53–6.37; p < 0.001 (i.e., each 1-μg/dL increase in blood lead concentration was associated with a 4-fold increased odds of ET). This association was more robust when cases were compared with a subsample of controls who did not share the same home environment (OR = 8.13; 95% CI, 3.05–21.65; p < 0.001). In adjusted models, results were similar.ConclusionsThese data replicate those of a previous study in New York and demonstrate an association between the environmental toxicant lead and a common neurologic disorder.

BD was found in 9.4% of patients in our VENOST series. Patients with BD were younger and showed a male predominance. The functional outcome of CVST in patients with BD was good; only 12% of patients presenting with cranial nerve involvement and altered consciousness at the beginning had a poor outcome (modified Rankin Score ⩾2).