Brain and nerve = Shinkei kenkyū no shinpo
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Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a single-gene disorder directly affecting the cerebral small blood vessels, that is caused by mutations in the HTRA1 gene encoding HtrA serine peptidase/protease 1 (HTRA1). CARASIL is the second known genetic form of ischemic, nonhypertensive, cerebral small-vessel diseases with an identified gene, following CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy). The exact prevalence of CARASIL is currently unknown, and so far about 50 patients have been reported, most of them from Japan and two from China. ⋯ CARASIL is a prototype single-gene disorder of cerebral small vessels, secondary to and distinct from CADASIL. CARASIL-associated mutant HTRA1s exhibited decreased protease activity and failed to repress transforming growth factor-β (TGF-β) family signaling, indicating that the increased TGF-β signaling causes arteriopathy in CARASIL. Therefore, HTRA1 represents another new gene to be considered in future studies of the mechanisms and therapeutic strategies of cerebral small-vessel diseases, as well as alopecia and degenerative vertebral/disk diseases.
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In this study, we reviewed the findings of diagnostic imaging of cerebral vascular anomalies classified as cerebral cavernous malformation (CCM)/hemangioma, developmental venous anomalies (DVAs)/venous malformation (VM), and capillary telangiectasia. In addition, we described the imaging findings of cavernous sinus hemangioma and orbital hemangioma/vascular anomaly. CCM has 2 forms: a sporadic form characterized by isolated lesions and a familial form characterized by multiple lesions with an autosomal dominant mode of inheritance. ⋯ SWI has improved the diagnosis of microbleeds, brain tumor, cerebrovascular disease, degenerative disease, etc. SWI is superior to GRE T2*-weighted imaging for determining hemosiderin, methohemoglobin, and deoxyhemoglobin contents. The sensitivity of SWI for determining the number of CCM lesions is significantly higher than that of GRE T2*-weighted imaging.
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Cavernous malformations (CMs) consist of dilated vascular channels that have a characteristic appearance on MRI. They can present with seizures, neurological deficits due to lesion hemorrhage, or as incidental findings on neuroradiological studies. Treatment options include conservative therapy; medical management of seizures; surgical intervention; and in selected cases, stereotactic radiosurgery. ⋯ We reviewed previously published papers on CMs with respect to hemorrhage rates, seizure control, and radiation-induced morbidity in order to better understand the balance of benefits and risks associated with the radiosurgical treatment for CMs. The data in this review provides convincing evidence that stereotactic radiosurgery is a relatively safe procedure with acceptable risks of morbidity and that its use could reduce the rebleeding rate and the frequency of seizures caused by for CMs located in the high-surgical-risk regions of the brain. We also present our experience of treating for 16 patients with CMs and show that our results were comparable to those previously reported.
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Gait disturbance, one of the axial symptoms, is caused by various disorders, including basal ganglia disease. Deep brain stimulation (DBS) has widened the spectrum of therapeutic options for patients with gait disturbance due to Parkinson disease and dystonia. In gait disturbance caused by basal ganglia disease, the main targets of DBS are the subthalamic nucleus (STN) and globus pallidus internus (GPi). ⋯ GPi DBS is effective for the treatment of primary segmental or generalized dystonia. The pedunculopontine tegmental nucleus (PPN), which is involved in locomotion, is one of the new targets for treating gait disturbance in Parkinson disease. We review DBS in the treatment of gait disturbance due to Parkinson disease and dystonia.
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Case Reports
[Formed visual hallucination after excision of the right temporo parietal cystic meningioma--a case report].
We report the case of a 64-year-old woman with cystic meningioma; this patients was otherwise healthy and experienced formed visual hallucinations after excision of the tumor. She experienced diplopia associated with metamorphopsia, which had persisted for 5 years only when she laid down and turned on her left side. ⋯ She experienced these hallucinations only when she closed her eyes; these hallucinations persisted for 3 days after the operation. The patient illustrated her observations with beautiful sketches, and the mechanism of visual hallucinations was studied.