Clinical, myopathological and genetic research of a patient with distal myopathy caused by caveolin-3 deficiency / 中华神经科杂志

Objective To report the clinical,myopathological and genetic features of a patient with distal myopathy caused by caveolin-3 (CAV3) deficiency.Methods The patient was a 27-year-old female.She had an onset symptom of asymmetric lower extremities weakness.The proximal limb-girdle muscles were involved subsequently.Clinical data of this patient were collected.The leg muscle magnetic resonance imaging (MRI) and an open biopsy of left tibialis anterior muscle were performed.In addition to histological,enzyme histochemical staining and ultrastructural examination,immunohistochemical staining with antibody against CAV3 was done.CAV3 gene was analyzed in the patient and her parents.Results Tl-weighted enhanced skeletal muscle MRI of the lower limbs showed the abnormal signal in distal and proximal muscles.Muscle biopsy showed moderate dystrophic changes and immunostaining for CAV3 showed reduced plasmalemma in the muscle fibers.Gene analysis disclosed a heterozygous c.136G ＞ A (p.Ala46Thr)mutation in the CAV3 gene,and the patient's parents did not have this mutation.Conclusions We report a distal myopathy case caused by c.136G ＞ A (p.Ala46Thr) mutation in the CAV3 gene,who had an onset symptom of asymmetric lower extremities weakness.The proximal limb-girdal muscles were also involved.This would help clinical doctors to know more about this rare myopathy.

The clinical and genetical characteristic of one dentatorubral-pallidoluysian atrophy pedigree with an onset of cognitive impairment / 中华神经科杂志

Objective To report the clinical and genetic characteristics of a dentatorubralpallidoluysian atrophy (DRPLA) pedigree with an onset of cognitive impairment.Methods Clinical data of this pedigree was collected.The numbers of CAG repeats in the exon 5 of atrophin-1 (ATN1) gene were analysed in the proband and the other 4 healthy family individuals.The polymerase chain reaction (PCR) products of the proband underwent cloning-sequencing using an original TA cloning kit.Results There were 5 patients in this family,4 with onset in adult and one in childhood.The proband had an onset manifestation of cognitive impairment,while the other 3 adult patients presented with ataxia.The two-year-old child in the pedigree had myoclonic epilepsy.The proband had 61 CAG repeats in the exon 5 of ATN1 gene.After TA cloning-sequencing of the proband ' s PCR products,there were 2 different numbers of CAG repeats,including 61 and 64.Conclusions The clinical manifestations of DRPLA can have obvious heterogeneity in one family.Some patients present with cognitive impairment.It is very important to test the numbers of CAG repeats of ATN1 gen for DRPLA diagnosis.Somatic mosaicism may be also observed in Chinese DRPLA patients.

Advances in thrombolytic therapy of acute ischemic stroke / 国际脑血管病杂志

Acute ischemic stroke is characterized by high morbidity,high mortality,and high disability.At present,thrombolytic therapy is the only treatment that can improve the prognosis of patients in acute phase.This article reviews the choice of time window,the primary means of thrombolytic therapy and medications,and the complications of recanalization after thrombolytic therapy.

The Use of Fluoxetine in Neurologic Disease / 医药导报

Objective:To introduce the use of fluoxetine in neurologic disease,especially in epilepsy.Method:We used fluoxetine as a supplement antiepileptic drug in 25 patients who couldnt be controlled yet by routine antiepileptics. A long term follow-up with these cases was carried out.Results:Most patients got better outcome.Conclusion:Fluoxetine would be an important supplement antiepileptic drug and have value for further clinical and experimental research.