Rinshō shinkeigaku = Clinical neurology
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Over the past decade, genome-wide association studies (GWASs) using common polymorphisms have been conducted to identify genetic risks associated with sporadic diseases. Although GWASs have successfully revealed numerous susceptibility genes for neurodegenerative diseases, the odds ratios associated with these risk alleles are generally low and account for only a small proportion of estimated familial clustering. ⋯ Using the clues provided by rare familial cases, we have recently identified strong genetic factors in Parkinson diseases and in multiple system atrophy based on the candidate gene approach. Focusing on the familial aggregation may be an efficient approach to identifying risk alleles of large effect sizes in apparently sporadic neurodegenerative diseases.
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A case of a small left pontine tegmental hemorrhage that presented as cheiro-oral syndrome with a bilateral perioral sensory disturbance is described. An 83-year-old man suddenly developed numbness in his bilateral perioral area and right hand. Head CT and MRI (T(2)*-weighted image) revealed a small left pontine tegmental hemorrhage. ⋯ The hematoma located in the left pontine tegmentum impaired the sensory fibers from the contralateral medial lemniscus (from the right hand) and the ventral trigeminothalamic tract (from the right perioral region). In addition, the ipsilateral trigeminothalamic tract (from the left perioral region) was also impaired. It is important to know that a small unilateral lesion in the brainstem (especially the pons) can cause cheiro-oral syndrome with a bilateral perioral sensory disturbance, and a small brainstem hematoma is the most frequent etiology of this disease.
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Anti-glycine receptor (anti-GlyR) antibodies were first reported in 2008 in a case of progressive encephalomyelitis with myoclonus and rigidity (PERM), which is a variant of stiff-person syndrome (SPS). After that, the antibodies have been studied extensively. At least 40 patients have been reported or presented until May 2013. ⋯ Twenty-one patients (75%) treated with immunotherapy or thymectomy improved, but two of six patients without immunotherapy died or developed cardiac arrest. The clinical features suggested that antibody-mediated inhibition of the GlyR on the brainstem nuclei or spinal inhibitory interneurons may cause continuous firing of α motor neurons and paroxysmal excessive response to a variety of afferent impulses, leading to increased stiffness, brainstem signs, trismus, myoclonus, painful spasms or hyperekplexia. Phenotype associated with the anti-GlyR antibodies may be broader than previously thought, but among those PERM is the most common phenotype.
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By progression of the disease, motor neurons degenerate in patients with amyotrophic lateral sclerosis (ALS) eventually lose nearly all voluntary muscles in the body. They are awake and aware but cannot move or communicate (locked-in state). ⋯ In our system, we record electrocorticogram (ECoG) obtained with subudural electrodes during their motor imagery, decode it and determine the movement they intended. So far, one patient of ALS with severe paralysis, implanted with this electrodes, successfully operated the PC communication tool only by thinking.
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Neuroendovascular therapy is a rapidly evolving clinical subspecialty because of its minimal invasiveness and novel device development. In Japan, neurosurgeons perform a substantial portion of neuroendovascular procedures, however, the number of neurologists who certified by the Japanese Society for Neuroendovascular Therapy (interventional neurologist) is gradually increasing. Neurologists tend to deal with medical treatment in the acute stage and prevention of ischemic stroke, in addition, neuroendovascular procedures for ischemic cerebrovascular diseases performed by neurologists themselves, such as acute revascularization therapy for acute intracranial major artery occlusion or carotid artery stenting, might provide various benefits to ischemic stroke patients because of the smooth, seamless and close management from admission, to intervention, to discharge and after discharge. Because of insufficient number of interventionists to perform emergent neurointerventional procedures in the clinical setting of acute ischemic stroke in Japan, we wish that more neurologists get interested in and receive training in the neuroendovascular therapy.