Journal of neurology
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Journal of neurology · Dec 2009
HLA class II alleles in patients with multiple sclerosis in the Biscay province (Basque Country, Spain).
Genetic susceptibility to multiple sclerosis (MS) is associated with genes of the major histocompatibility complex, particularly with the HLA DRB1*1501-DQA1*0102-DQB1*0602 haplotype in Caucasians. To investigate the association of DRB1, DQA1 and DQB1 alleles and haplotypes with MS in Biscay, Basque Country, northern Spain, we examined 197 patients and 200 regionally matched controls. High resolution HLA class II typing was performed by polymerase chain reaction followed by sequence-specific oligonucleotide probe hybridization. ⋯ On the other hand, several alleles showed lower frequencies in the MS group: DRB1*0101, DQA1*0101, DQB1*0303, and DQB1*0501, but only DRB1*0101 and DQB1*0303 maintained a negative association with the disease in the regression analysis. Three haplotypes were identified as potentially predisposing for MS in our population: DRB1*1501-DQA1*0102-DQB1*0602, DRB1*0402-DQA1*0301-DQB1*0302, and HLA-DRB1*013-DQA1*05-DQB1*0301. Additionally, three haplotypes associated with a lower risk for MS were identified, exhibiting DRB1*0101-DQA1*0101-DQB1*0501 the strongest negative association with MS [12% in controls vs. 3.8% in MS, Pc = 0.00047, OR = 0.290 (95% CI = 0.160–0.528)], and suggesting, therefore, a putative protective role for this haplotype in the population under study.
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Choreathetosis due to thyrotoxicosis is a rare movement disorder of acute onset. Here we present the first report of choreathetosis secondary to abuse of levothyroxine. A 35-year-old woman with autoimmune thyroiditis tripled her daily levothyroxine intake and lost 20 kg of weight during the following 6 months. ⋯ When levothyroxine was reduced to her usual dosage, all symptoms vanished in 7 days. The prompt effect of dose correction points towards a direct influence of levothyroxine on the basal ganglia; alternatively, the effects of levothyroxine might have been indirect and, possibly, autoimmune-mediated. Abuse of levothyroxine and related thyroid-tropic substances should be included into the differential diagnosis of acute choreathetosis.
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Journal of neurology · Oct 2009
Case ReportsNovel compound heterozygous mutations of the SPG11 gene in Korean families with hereditary spastic paraplegia with thin corpus callosum.
Hereditary spastic paraplegia with thin corpus callosum (HSP-TCC) is one of the most common complicated forms of autosomal recessive hereditary spastic paraplegia (HSP). Mutation in SPG11 gene, which is mapped to chromosome 15q21, was recently found to be a major cause of this variant form of HSP. The aim of this study is to investigate SPG11 mutations and clinical manifestations in two Korean families with HSP-TCC. ⋯ Both of our patients had impairments in frontal lobe functions. We present the first SPG11 mutations in Korean families, three of which are novel. SPG11 mutation should be suspected in Korean patients having HSP with TCC and executive dysfunction.
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Long-term survival of patients with histologically confirmed glioblastoma is a rare event with figures in the range of 2-3% for 5-year survival (Scott et al. in Ann Neurol 46:183-188, 1999; McLendon and Halperin in Cancer 98:1745-1748, 2003; Krex et al. in Brain 130:2596-2606, 2007). Prognosis and further clinical course of these patients beyond 5 years after diagnosis are in essence unknown with only anecdotal reports of patients surviving for 10 years or more (Salvati et al. ⋯ We here report on the extended follow-up (mean, 139.4 months) of a cohort of glioblastoma long-term survivors. Very late relapses occurred in many patients even after more than 10 years of progression-free survival.
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Journal of neurology · Oct 2009
Reduced levodopa-induced complications after 5 years of subthalamic stimulation in Parkinson's disease: a second honeymoon.
The purpose of this paper is to describe the effect of 5 years of subthalamic nucleus deep brain stimulation (STN DBS) on levodopa-induced complications, both in everyday life and during an acute challenge with levodopa. Thirty three patients were evaluated during an acute levodopa challenge before surgery and then 1 and 5 years afterwards (both off stim and on stim), using the UPDRS III scale and the CAPSIT-PD scales for dystonia and peak-dose dyskinesia. The UPDRS IV scale was used to assess motor complications in everyday life. ⋯ STN DBS decreases levodopa-induced motor complications over the long term. This phenomenon may be explained by (a) overall stabilization of the basal ganglia network and (b) striatal synaptic changes. Our results suggest that DBS leads to both qualitative and quantitative modulations in the corticostriatal loops.