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[Diagnosis, pathomechanism and treatment of CADASIL].
We diagnosed 37 CADASIL cases genetically and identified three features common to Japanese cases. One is the wide distribution of onset age for clinical symptoms other than migraine, with the onset of symptoms being later than age 60 in 22% of cases. Second, the majority (65%) of Japanese CADASIL ca...
[Clinical features of predominantly sensory stroke due to brainstem infarction].
We report 13 patients presenting with predominantly sensory strokes due to brainstem infarction, without any other brainstem symptoms such as hemiparesis, dysarthria or vertigo. All of them had lacunar infarctions localized at the medial lemniscus and/or spinothalamic tract, at the pontine (12 patie...
[Japanese consortium for amyotrophic lateral sclerosis research (JaCALS)].
We constructed a multicenter registration and follow-up system called Japanese Consortium for Amyotrophic Lateral Sclerosis research (JaCALS). Genomic DNA samples of ALS patients were stored and linked to the clinical information. We designed a telephone survey system using a clinical research coord...
[How can be a favorable and effective instructional design (ID) for the future neurologist?].
We should hurry to create the authentic context in the educational design of Neurology, then construct the stepwise off-the-job training system honestly along with it, on which we should aim to increase familiarity of learning neurological diseases or skills for these younger people, the future neur...
[Regional disparities on medical care for neurological diseases in Aomori prefecture].
The population and the area of Aomori prefecture are 1,380 thousands and 9,644km2, respectively. Aomori prefecture geographically and economically forms an independent medical district. However, only 29 neurological specialists attended work in Aomori Prefecture. The numbers of neuro...
[Limb-girdle muscular dystrophy type 2M with adult-onset loss of ambulation. A case report].
We report a 29-year-old man with limb-girdle muscular dystrophy type 2M (LGMD2M) caused by a compound heterozygous mutation of 3-kb insertion in the 3'-untranslated region and c.1073A > C (p.Q358P) mutation in exon 9 in FKTN. He had been diagnosed since childhood as having Becker muscular dystrophy...
[An autopsy case of Ehlers-Danlos syndrome showing various types of cerebrovascular disease].
We report a 73-year-old woman with Ehlers-Danlos syndrome (EDS) and hypertension who had developed various types of cerebrovascular disease. She had suffered from cerebral hemorrhage of the left putamen at the age of 58, of the left parietal lobe at 64 and cerebral infarction of right internal capsu...
[A case of neuroleptic malignant syndrome associated with reversible leukoencephalopathy].
We report a case of neuroleptic malignant syndrome associated with reversible leukoencephalopathy. The patient was a 60-year-old woman. Soon after ingesting an antipsychotic drug, the patient developed neuroleptic symptoms. After hydration and dantrolene sodium were administered, muscular rigidity g...
[The clinical usefulness of MRI diffusion weighted images in herpes simplex encephalitis-like cases].
We examined the serial MRI diffusion weighted images (DWIs) in two patients with acute viral encephalitis similar to herpes simplex encephalitis (HSE). Patient 1. A 27-year-old woman was admitted to the psychiatry ward for her confusional state and convulsions. Because of abnormal CSF findings she w...
Electrophysiological studies of the corticomotoneuron in ALS.