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Several patients with beta-propeller protein-associated neurodegeneration (BPAN)/static encephalopathy with neurodegeneration in adulthood have been reported to present Rett syndrome (RTT)-like features. This report presents an individual with BPAN showing clinical features of RTT. Psychomotor delay and epilepsy onset were noted at 1 year, and regression began at 4 years. Screening of the methyl-CpG binding protein 2 (MECP2) did not show variants. At 22 years, basal ganglia iron deposits were found on magnetic resonance imaging (MRI), and the WD-domain repeat 45 gene (WDR45) variant was identified. Review of the literature showed that BPAN with RTT-like features is associated with more epileptic seizures and less deceleration of head growth, breathing irregularities, and cold extremities than classic RTT with MECP2 variants. These clinical presentations may provide clues for differentiating between these two disorders. However, both WDR45 and MECP2 should be screened in patients presenting a clinical picture of RTT without specific MRI findings of BPAN.

Herein we report the case of a 6-year-old girl with autism spectrum disorder (ASD) and weakness in the distal portion of the right upper limb. Although difficult to perform, nerve conduction studies indicated demyelinating neuropathy. Magnetic resonance imaging (MRI) showed swelling a nd high-intensity signals in the right brachial plexus and cervical spinal roots. The symptoms recovered after a single course of i.v. immunoglobulin. Electrophysiological indices and MRI findings also improved after treatment. This case demonstrates the utility of neuroimaging in addition to electrophysiological assessments for the diagnosis of demyelinating neuropathy, particularly in young patients with ASD.

Joubert syndrome (JS) is rare recessive disorders characterized by the combination of hypoplasia/aplasia of the cerebellar vermis, thickened and elongated superior cerebellar peduncles, and a deep interpeduncular fossa which is defined by neuroimaging and is termed the 'molar tooth sign'. JS is genetically highly heterogeneous, with at least 29 disease genes being involved. To further understand the genetic causes of JS, we performed whole-exome sequencing in 24 newly recruited JS families. Together with six previously reported families, we identified causative mutations in 25 out of 30 (24 + 6) families (83.3%). We identified eight mutated genes in 27 (21 + 6) Japanese families, TMEM67 (7/27, 25.9%) and CEP290 (6/27, 22.2%) were the most commonly mutated. Interestingly, 9 of 12 CEP290 disease alleles were c.6012-12T>A (75.0%), an allele that has not been reported in non-Japanese populations. Therefore c.6012-12T>A is a common allele in the Japanese population. Importantly, one Japanese and one Omani families carried compound biallelic mutations in two distinct genes (TMEM67/RPGRIP1L and TMEM138/BBS1, respectively). BBS1 is the causative gene in Bardet-Biedl syndrome. These concomitant mutations led to severe and/or complex clinical features in the patients, suggesting combined effects of different mutant genes.

Background and Aim The Montreal Cognitive Assessment (MoCA) is the most suitable measure for screening cognitive impairment in Parkinson's disease (PD). However, the utility of the MoCA has not been documented sufficiently, especially in Asian populations. The present multicenter study included a large number of Japanese patients, and compared Mini-Mental State Examination (MMSE) and MoCA scores in PD patients. Methods We carried out a cross-sectional study. Idiopathic PD patients (n = 304; age 70.6 ± 8.3 years (mean ± SD); disease duration 6.6 ± 5.1 years; Hoehn and Yahr stage 2.7 ± 0.7) were registered at 13 participating hospitals, and their clinical/neurological/cognitive features were examined using Japanese versions of the MMSE and MoCA. Results The MMSE and MoCA scores were 26.3 ± 3.6 (range 12–30) and 20.9 ± 5.0 (range 5–30), respectively, and showed a strong correlation (R2 = 0.74, P

Objective: The aim of this work was to investigate the prevalence of camptocormia and the clinical characteristics of patients with camptocormia in a large population of PD patients. Background: Although camptocormia has been recognized as a prominent phenomenon in PD, the previous epidemiological reports were limited, especially in terms of sample size. Methods: We evaluated 531 PD patients (disease duration: 7.0 ± 5.5 years, mean ± standard deviation). We examined their clinical features and the prevalence of camptocormia. Results: Camptocormia was detected in 22 patients (4.1%) and found in patients who were older and had more severe motor symptoms and a higher levodopa (L-dopa) dose (P < 0.05), compared to the patients without camptocormia. Patients with camptocormia showed significantly higher frequencies of autonomic symptoms, such as constipation and urinary incontinence (P < 0.05). Conclusions: Camptocormia is uncommon in PD and is associated with disease severity, higher L-dopa dose and higher frequencies of autonomic symptoms. © 2011 Movement Disorder Society

Exposure to man-made electromagnetic fields has increased over the past century. As a result of exposure to these fields, concerns have been raised regarding the relationship between electromagnetic fields and human health. Interest in the biological and health effects of intermediate frequency (IF) magnetic fields has grown recently because of the increase in public concern. In order to investigate whether IF magnetic fields have biological effects, we have developed a 20 kHz (IF) magnetic field exposure system for in vivo studies. The exposure facility was designed to study the biological effects of IF magnetic field on laboratory animals. The facility consists of a 9 m × 9 m × 5 m high room containing seven separate rooms including a 5.3 m × 4.5 m × 3 m high specific-pathogen free exposure room. The dimensions of the exposure system are 1.6 m × 1.6 m × 1.616 m high located inside this exposure room. The system is designed to provide magnetic fields up to 200 µT at 20 kHz with the uniformity within ±5% over the space occupied by animals. After constructing the facility, performance tests were carried out. As a result, it was confirmed that our facility met requirements for evaluation of the biological effects of IF magnetic field on small animal experiments. In this paper, the design, construction, and results of evaluation of an animal exposure facility for the in vivo biological effects of an IF magnetic field are described. Bioelectromagnetics 30:36–44, 2009. © 2008 Wiley-Liss, Inc.

BACKGROUND Familial hemophagocytic lymphohistiocytosis HLH (FHL) is fatal, unless patients are rescued with hematopoietic stem cell transplantation (SCT). Although the molecular identification of FHL now is possible at least in part from perforin gene study, many cases escape detection or never are tested due to the lack of specific hallmarks, making diagnosis difficult. To the authors' knowledge, it remains to be determined whether persistently low natural killer cell (NK) activity and a high incidence of central nervous system (CNS) disease increase the probability of FHL. METHODS The authors analyzed 42 HLH patients age < 2 years, 13 of whom developed overt CNS disease and 5 of whom demonstrated persistently deficient NK activity (Group 1). The remaining 24 patients had no CNS disease and had NK activity of moderate decrease to within the normal range (Group 2). RESULTS In Group 1, CNS symptoms were detected in 6 cases within 1 month and between 4.5–9 months in 6 other patients. In these cases, spotty lesions demonstrating a high T2 signal in the white matter were noted on brain magnetic resonance imaging. The survival was significantly poor for patients in Group 1 unless they were rescued with SCT, which was performed in 5 of the 13 patients with CNS disease and in all 5 patients with persistent NK activity deficiency. SCT was successful in 9 patients, with no CNS sequelae reported after the transplantation. Conversely, the prognosis of the 24 patients in Group 2 was better and only 1 patient required SCT. CONCLUSIONS Very young HLH patients (age < 2 years) who are at high risk of fatal FHL with persistently deficient NK activity and/or overt CNS disease require appropriate SCT to reverse CNS disease and achieve a complete cure. Cancer 2002;94:3023–31. © 2002 American Cancer Society. DOI 10.1002/cncr.10515

The most frequent cause of stroke and transient ischemic attacks is cerebral embolism. Cardiogenic cerebral embolization is common among patients with any cause of atrial fibrillation (AF) but particularly in AF resulting from rheumatic and arteriosclerotic heart disease. Rare causes of cerebral embolism include fat entering the bloodstream after trauma, tumor cells arising from atrial myxomata, and gas embolism. Cerebral embolic infarctions and their sources of origin can now be confirmed during life by many invasive (I) and noninvasive (NI) procedures including computerized tomography (CT) scanning (NI), magnetic resonance imaging (MR) (NI), contrast angiography (I), digital subtraction angiography (I), magnetic resonance angiography (NI), carotid Doppler and transcranial Doppler (NI), and echocardiography (NI) without and with contrast. These tests visualize the following: embolic occlusions of small and large cerebral arteries, resultant cerebral infarctions in appropriate vascular territories, plaques within the aorta, subclavian, vertebral, and carotid arteries, and mural thrombi located within the heart and aortocephalic arteries. Transcranial Doppler monitoring of the middle cerebral artery detects both small (asymptomatic) and large (symptomatic) cerebral emboli, as well as transseptal cardiac shunting, which is a cause of paradoxical embolization. Holter monitoring detects episodic cardiac dysrhythmias not apparent during routine ECG. CT or MRI identify cerebral infarctions resulting from virtually all large cerebral emboli. Early recognition and identification of types of cerebral embolism are important because of the availability of effective prophylactic therapies. (ECHOCARDIOGRAPHY, Volume 13, September 1996)

Cenju-3 is a parallel computer in which up to 256 processing elements (PEs) are connected by a highspeed multistage interconnection network. In designing the system, the architecture is tuned for up to a 256 processor system. A VR4400 with 1 MB of secondary cache memory is implemented on a multi-chip-module to realize a compact and high-performance PE. The multistage network is implemented very compactly. The number of the cables is equal to the number of processors. The dedicated network interface hardware designed for the system achieves low latency and high throughput. This paper presents the machine architecture and its evaluation.