Objective To investigate the clinical presentation,laboratory features,imaging findings and CYP27A1 gene mutations of cerebrotendinous xanthomatosis (CTX) for improving the recognition and the early diagnosis and treatment of the disease.Methods Medical records and 8 months follow-up data of one patient who had been clinical diagnosed as CTX were collected and the pedigree and gene mutation analysis of the patient were carried out.Meanwhile,the clinical characters of CTX were analyzed according to the data from our patient and the review of the literature. Results Patient was a 36 years old male manifested with mental retardation, bilateral corticospinal tract and corticonuclear tract impairment,cerebellar lesions and peripheral neuropathy; head MRI indicated symmetric abnormal signals of bilateral basal ganglia,cerebellar dentate nucleus softening and calcification lesions; Achilles tendon MRI indicated markedly thickened Achilles tendon; gene mutation analysis showed sterol-27-hydroxylase gene( CPY27A1 )C→T homozygous mutation in 1016 nucleotide of exon 5.Ursodesoxycholic acid was given as treatment.In 8 months of follow up,for the first 6 months,the patient took medicine regularly and the illness condition was stable.But for the nearly 2 months,the patient voluntarily stopped medicine and the illness condition was worse.Conclusions CPY27A1 gene C→T homozygous mutation in 1016 nucleotide of exon 5 leads to CTX in the patient, which conforms to the characteristic of autosomal recessive disorder. CTX has some characteristic clinical manifestations,such as Achilles tendon thickening,intelligent declining and so on.But lack of specificity of early radiographic examination makes CTX easy to be delayed diagnosis and treatment.CYP27A1 gene mutation analysis has an important significance for early diagnosis of CTX,which should be paid more attention,while the early application of chenodeoxycholicacid treatment can delay the progression of the disease.

AIM: To observe the effects of different doses of L-dopa on the rotational behavior and amounts of cells expressing D_2 receptors in striatum in hemiparkinsonian rats.METHODS: A hemiparkinsonian model was established in rats by pretreatment with 6-hydroxydopamine.The D_2 receptor expression were detected by immunohistochemical staining.The numbers of rotations induced by apomorphine was counted within 30 min before and after L-dopa(10 mg?kg~(-1)?d~(-1),50 mg?kg~(-1)?d~(-1) or 100 mg?kg~(-1)?d~(-1),ip) was introduced to Parkinson's disease(PD) model rats for 15 days.RESULTS: In successful PD model rats,the increased percentage of D_2 receptor in lesioned side compared with intact side was associated linearly with the numbers of rotations within 30 min(r=0.927,P

AIM: By Applying magnetic resonance spectroscopy(MRS) to distinguish delayed neuronal death and reactive glial proliferation in ipsilateral hippocampus of MCAO reperfusion rats.METHODS: Sixteen adult Wistar rats with MCA occlusion for 1 h then perfusion through remove the embolus were used in the experiment.10 pseudooperaton rats were served as control.MRS and pathologic examination were performed six weeks after operation.The hippocampus modality,cell density and immunohistochemical results with N-acetylaspartate,creatine and myo-inositol changes were compared.RESULTS: The values of NAA,Cr and NAA/Cr ratio of ipsilateral hippocampus lesion in MCAO reperfusion rats(2.05?0.33,2.42?0.41 and 0.86?0.10) were decreased distinctly than those in opposite side(3.45?0.58,3.10?0.93,1.18?0.32) and control group(3.42?0.43,3.57?0.47,0.98?0.14).MI value and mI/Cr ratio in ischemic hippocampus(1.47,1.30) were visible increased than those in control group(0.15,0.15).CONCLUSIONS: MRS is a perfect technique for observing the cellular metabolic changes in CA1 region.Decrease in NAA resulted from neuron delayed injury and increase in mI resulted from reactive astrocytes proliferation can be matched respectively.However,the decrease in NAA is not perfectly corresponded to the degree of neuron lost.This change has closed correlation with reactive astrocytes proliferation.