Paroxysmal kinesigenic dyskinesia and myotonia congenita in the same family：coexistence of a PRRT2 mutation and two CLCN1 mutations

Paroxysmal kinesigenic dyskinesia（PKD） and myotonia congenita（MC） are independent disorders that share some clinical features. We aimed to investigate the sequences of PRRT2 and CLCN1 in a proband diagnosed with PKD and suspected MC. Clinical evaluation and auxiliary examinations were performed. Direct sequencing of the entire coding regions of the PRRT2 and CLCN1 genes was conducted. Haplotype analysis confirmed the relationships among the family members. The proband suffered choreoathetosis attacks triggered by sudden movements, and lower-limb weakness a n d s t i ff n e s s t h a t w o r s e n e d i n c o l d w e a t h e r. Carbamazepine monotherapy completely controlled his choreoathetosis and significantly relieved his limb weakness and stiffness. His father, when young, had similar limb stiffness, while his mother and brother were asymptomatic. Genetic analysis revealed that the proband and his father harbored a PRRT2 c.649 dup C mutation, and CLCN1 c.1723C〉T and c.2492A〉G mutations. His brother carried only the two CLCN1 mutations. None of these mutations were identified in his mother and 150 unrelated controls. This is the first report showing the coexistence ofPRRT2 and CLCN1 mutations. Our results also indicate that both the PRRT2 and CLCN1 genes need to be screened if we fail to identify PRRT2 mutations in PKD patients or CLCN1 mutations in MC patients.     

Complications of microvascular decompression in hemifaciai spasm treatment：Retrospective analysis of 156 cases

BACKGROUND： Microvascular decompression has become a well-accepted, safe method in the treatment of hemifacial spasms. However, postoperative complications exist and influence the prognosis of the disease. OBJECTIVE： This study aimed to analyze, by case review, the characteristics and regularity of microvascular decompression complications in the treatment of hemifacial spasm. DESIGN： Retrospective analysis. SETTING： Beijing General Group Hospital of the Chinese People＇s Armed Police Forces. PARTICIPANTS： A total of 156 patients with hemifacial spasm were admitted to the Department of Neurosurgery, Beijing General Group Hospital of the Chinese People＇s Armed Police Forces from June 2004 to June 2006 and recruited for this study. The patients, 57 males and 99 females, averaged 46 years of age （range 17-68-years old）. All suffered from facial innervated muscular paroxysmal and recurrent contraction, which could not be controlled by consciousness. Electromyogram demonstrated waves of fibrillation and fasciculation. Prior to admission, all patients had received other treatments. Written informed consents for treatment were obtained from all patients. This protocol was approved by the Hospital＇s Ethics Committee. METHODS： After anesthesia, a cranial bone pore was drilled below the connection of the lateral sinus and sigmoid sinus. Dura mater was dissected at the ＂⊥＂ shape and held in the air. Under microscopy, the flocculus cerebelli was lifted slightly up for convenient observation of the cerebellopontine angle. The mucous membrane was sharply separated. Corresponding vessels were identified at the root of the facial nerves and subsequently liberated and disassociated from the root exit zone. Suitably sized Teflon cotton was placed between the corresponding vessels and brain stem. MAIN OUTCOME MEASURES： Complications of microvascular decompression. RESULTS： All 156 patients participated in the final analysis. （1） Postoperatively, 66 （42%） patients presented with obvious headach     

Smoking and Alzheimer’s disease among Mongolian and Han Chinese aged 55 years and over living in the Inner Mongolia farming area of China

Residents aged 55 years or older from 27 communities and two settlements in Xilingol League of Inner Mongolia were selected for participation in an Alzheimer’s disease epidemiological investigation from June 2008 to June 2009,including 3 259 Mongolians and 5 887 Han Chinese.The Mongolian subjects in the Alzheimer’s disease group were at age of 55 years or older(on average),and more of them were male,illiterate and/or had a history of coronary artery disease and/or diabetes compared with the Mongolian subjects in the non-Alzheimer’s disease group.The Han Chinese subjects in the Alzheimer’s disease group were at age of 55 years or older(on average) and more of them were women,illiterate and/or had a history of coronary artery disease,and less of them had a history of alcohol consumption compared with the non-Alzheimer’s disease group.Non-conditional multivariate stepwise logistic regression identified that male gender,increasing age and having a history of diabetes and/or coronary heart disease were associated with higher odds of Alzheimer’s disease among Mongolians while having an educational background was associated with lower odds(OR = 0.259,95%CI 0.174-0.386).Among the Han Chinese subjects,male gender,increasing age and having a history of coronary heart disease and/or hypertension was associated with higher odds of Alzheimer’s disease,while having an educational background was associated lower odds(OR = 0.271,95%CI 0.192-0.381).The results also indicated that extremely heavy smoking may be a risk factor for Alzheimer’s disease in Mongolian males aged over 55 years.There was no significant difference in smoking habits between the Mongolian and Han Chinese subjects with Alzheimer’s disease.