Mutations in the leucine- rich repeat kinase 2 (LRRK2)- gene have been shown to cause autosomal dominant Parkinson’ s disease. Few mutations in this gene have been identified. We investigated the frequency of a commo...Mutations in the leucine- rich repeat kinase 2 (LRRK2)- gene have been shown to cause autosomal dominant Parkinson’ s disease. Few mutations in this gene have been identified. We investigated the frequency of a common heterozygous mutation, 2877510 g→ A, which produces a glycine to serine aminoacid substitution at codon 2019 (Gly2019 ser), in idiopathic Parkinson’ s disease. We assessed 482 patients with the disorder, of whom 263 had pathologically confirmed disease, by direct sequencing for mutations in exon 41 of LRRK2. The mutation was present in eight (1.6% ) patients. We have shown that a common single Mendelian mutation is implicated in sporadic Parkinson’ s disease. We suggest that testing for this mutation will be important in the management and genetic counselling of patients with Parkinson’ s disease.展开更多
Once diagnosed with a refractory seizure disorder,patients often receive aggressive and escalating pharmacotherapy. However, a significant proportion of patients referred to neurologists do not have epilepsy. Toxic an...Once diagnosed with a refractory seizure disorder,patients often receive aggressive and escalating pharmacotherapy. However, a significant proportion of patients referred to neurologists do not have epilepsy. Toxic and metabolic causes of seizures should always be considered as they are potentially curable, and may be fatal if untreated. The following case report highlights the need for careful reassessment of all seizures that are atypical and refractory to medication.展开更多
文摘Mutations in the leucine- rich repeat kinase 2 (LRRK2)- gene have been shown to cause autosomal dominant Parkinson’ s disease. Few mutations in this gene have been identified. We investigated the frequency of a common heterozygous mutation, 2877510 g→ A, which produces a glycine to serine aminoacid substitution at codon 2019 (Gly2019 ser), in idiopathic Parkinson’ s disease. We assessed 482 patients with the disorder, of whom 263 had pathologically confirmed disease, by direct sequencing for mutations in exon 41 of LRRK2. The mutation was present in eight (1.6% ) patients. We have shown that a common single Mendelian mutation is implicated in sporadic Parkinson’ s disease. We suggest that testing for this mutation will be important in the management and genetic counselling of patients with Parkinson’ s disease.
文摘Once diagnosed with a refractory seizure disorder,patients often receive aggressive and escalating pharmacotherapy. However, a significant proportion of patients referred to neurologists do not have epilepsy. Toxic and metabolic causes of seizures should always be considered as they are potentially curable, and may be fatal if untreated. The following case report highlights the need for careful reassessment of all seizures that are atypical and refractory to medication.
