Naoto Jingami

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The diagnosis of idiopathic normal pressure hydrocephalus (iNPH) is sometimes complicated by concomitant Alzheimer's disease (AD) pathology. The purpose of the present study is to identify an iNPH-specific cerebrospinal fluid (CSF) biomarker dynamics and to assess its ability to differentiate iNPH from AD. Total tau (t-tau), tau phosphorylated at threonine(More)
We recently reported clinical anticipation in Japanese families with benign adult familial myoclonus epilepsy (BAFME). However, it remains unknown whether clinical anticipation is predominantly associated with paternal or maternal transmission. We investigated the relationship between gender of the transmitting parent and clinical anticipation in nine BAFME(More)
Idiopathic normal pressure hydrocephalus (iNPH) is a treatable cause of dementia, gait disturbance, and urinary incontinence in elderly patients with ventriculomegaly. Its unique morphological feature, called disproportionately enlarged subarachnoid-space hydrocephalus (DESH), may also be a diagnostic feature. Lipocalin-type prostaglandin D synthase(More)
A 40-year-old man was referred to our hospital because of vertical supranuclear gaze palsy, frequent sudden loss of muscle tonus and ataxia for several years. He had a history of prolonged neonatal jaundice. He was given a diagnosis of autism in his childhood, followed by a diagnosis of schizophrenia in his teenage. He also developed a savant skill of(More)
Generalised (genetic) epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome with various phenotypes. The majority of individuals with GEFS+ have generalised seizure types, in addition to febrile seizures (FS) or febrile seizures plus (FS+), defined as either continued FS after 6 years of age or afebrile seizures following FS. A(More)
OBJECTIVE The study aim was to assess the influence of presurgical clinical symptom severity and disease duration on outcomes of shunt surgery in patients with idiopathic normal-pressure hydrocephalus (iNPH). The authors also evaluated the cerebrospinal fluid tap test as a predictor of improvements following shunt surgery. METHODS Eighty-three patients (45(More)
Brain dysfunction in Japanese benign adult familial myoclonus epilepsy (BAFME) has not been elucidated. To clarify diffuse brain dysfunction as indicated by posterior dominant rhythm (PDR) slowing in patients with BAFME. The frequency of PDR on EEG was studied in 19 BAFME patients (50.6±15.7 years) and 38 age-matched control subjects (50.1±14.5 years). We(More)
Patient 1 was a 40-year-old man, who suffered from right leg myoclonus 1 week after an episode of fever and headache. Myoclonus disappeared 4 months after administration of clonazepam. Patient 2 was a 42-year-old man, who suffered from right leg myoclonus, attacks of speech arrest and a generalized tonic-clonic seizure. His symptoms disappeared after(More)
Even now, only a portion of leukodystrophy patients are correctly diagnosed, though various causative genes have been identified. In the present report, we describe a case of adult-onset leukodystrophy in a woman with ovarian failure. By whole-exome sequencing, a compound heterozygous mutation consisting of NM_020745.3 (AARS2_v001):c.1145C>A and NM_020745.3(More)
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