Aichi Human Service Center

Kasugai, Japan

Aichi Human Service Center

Kasugai, Japan
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Chiba Y.,Institute for Developmental Research | Komori H.,Aichi Human Service Center | Takei S.,Institute for Developmental Research | Takei S.,Koshien University | And 11 more authors.
Neuropathology | Year: 2014

Niemann-Pick disease type C (NPC) is an autosomal recessive neurovisceral lipid storage disorder. Two disease-causing genes (NPC1 and NPC2) have been identified. NPC is characterized by neuronal and glial lipid storage and NFTs. Here, we report a man with juvenile-onset progressive neurological deficits, including pyramidal signs, ataxia, bulbar palsy, vertical supranuclear ophthalmoplegia, and psychiatric symptoms; death occurred at age 37 before definitive clinical diagnosis. Post mortem gross examination revealed a unique distribution of brain atrophy, predominantly in the frontal and temporal lobes. Microscopically, lipid storage in neurons and widely distributed NFTs were observed. Lipid storage cells appeared in systemic organs and filipin staining indicated intracellular cholesterol accumulation in hepatic macrophages. Electron microscopy revealed accumulation of lipids and characteristic oligolamellar inclusions. These findings suggested an NPC diagnosis. Neuronal loss and gliosis were frequently accompanied by NFTs and occurred in the frontal and temporal cortices, hippocampus, amygdala, basal forebrain, basal ganglia, thalamus, substantia nigra and brain stem nuclei. Lewy bodies (LBs) were observed in most, but not all, regions where NFTs were evident. In contrast, neuronal lipid storage occurred in more widespread areas, including the parietal and occipital cortices where neurodegeneration with either NFTs or LBs was minimal. Molecular genetic analysis demonstrated that the patient had compound heterozygous mutations in the cysteine-rich loop (A1017T and Y1088C) of the NPC1 gene. To our knowledge there has been no previous report of the A1017T mutation. The pathological features of this patient support the notion that NPC has an aspect of α-synucleinopathy, and long-term survivors of NPC may develop a frontotemporal-predominant distribution of brain atrophy. © 2013 Japanese Society of Neuropathology.


Nakamura M.,Institute for Developmental Research | Mizuno S.,Central Hospital | Kumagai T.,Aichi Human Service Center
No To Hattatsu | Year: 2010

Williams syndrome (WS) is known for its uneven cognitive abilities. Visuo-spatial cognition is more disturbed, whereas cognition of colors or shapes of objects is relatively preserved. This tendency is attributed to the greater deficits of functions in the dorsal pathway compared to those in the ventral pathway in the visual system. When patients with WS are asked to copy two dimensional figures, they often show difficulty in locating components of the figures to make global shapes. Similar findings are observed in copying kanji, Japanese semantic characters. Patients with WS often can copy only the components of a kanji character but can not locate the components properly and fail to make appropriate global shapes of the character even though they can read it. In order to ameliorate this difficulty, we rely on the preserved cognitive function, that is, the cognition of colors. Four participants with WS, who have difficulty copying two dimensional figures, joined the study. A kanji written on a square which is divided into four sections was used as a copy model. Each divided part of the square was colored red, green, yellow and blue, respectively. A similarly colored square was given to copy the kanji. This method was successful and made it easier for the participants with WS to copy a given kanji as it became easier to realize where to locate each component. Intervention using similar squares without colors or only with gray scaled back ground did not work. In addition, kanji with differently colored components was also presented to one of the participants as a model but it was not copied successfully. The similar difficulty in copying two dimensional objects and kanji was observed in a patient with Kabuki syndrome and the same interventional method with colored squares was effective for copying kanji.


Naiki M.,Institute for Developmental Research | Naiki M.,Nagoya University | Ochi N.,Aichi Prefectural Hospital and Habilitation Center for Disabled Children | Kato Y.S.,Tokushima Bunri University | And 9 more authors.
American Journal of Medical Genetics, Part A | Year: 2014

Mitochondrial trifunctional protein (MTP) is a hetero-octamer composed of four α- and four β-subunits that catalyzes the final three steps of mitochondrial β-oxidation of long chain fatty acids. HADHA and HADHB encode the α-subunit and the β-subunit of MTP, respectively. To date, only two cases with MTP deficiency have been reported to be associated with hypoparathyroidism and peripheral polyneuropathy. Here, we report on two siblings with autosomal recessive infantile onset hypoparathyroidism, peripheral polyneuropathy, and rhabdomyolysis. Sequence analysis of HADHA and HADHB in both siblings shows that they were homozygous for a mutation in exon 14 of HADHB (c.1175C>T, [p. A392V]) and the parents were heterozygous for the mutation. Biochemical analysis revealed that the patients had MTP deficiency. Structural analysis indicated that the A392V mutation identified in this study and the N389D mutation previously reported to be associated with hypoparathyroidism are both located near the active site of MTP and affect the conformation of the β-subunit. Thus, the present patients are the second and third cases of MTP deficiency associated with missense HADHB mutation and infantile onset hypoparathyroidism. Since MTP deficiency is a treatable disease, MTP deficiency should be considered when patients have hypoparathyroidism as the initial presenting feature in infancy. © 2014 Wiley Periodicals, Inc.


Fukushi D.,Institute for Developmental Research | Yamada K.,Institute for Developmental Research | Nomura N.,Institute for Developmental Research | Naiki M.,Institute for Developmental Research | And 7 more authors.
American Journal of Medical Genetics, Part A | Year: 2014

Xq28 duplication syndrome including MECP2 is a neurodevelopmental disorder characterized by axial hypotonia at infancy, severe intellectual disability, developmental delay, mild characteristic facial appearance, epilepsy, regression, and recurrent infections in males. We identified a Japanese family of Xq28 duplications, in which the patients presented with cerebellar ataxia, severe constipation, and small feet, in addition to the common clinical features. The 488-kb duplication spanned from L1CAM to EMD and contained 17 genes, two pseudo genes, and three microRNA-coding genes. FISH and nucleotide sequence analyses demonstrated that the duplication was tandem and in a forward orientation, and the duplication breakpoints were located in AluSc at the EMD side, with a 32-bp deletion, and LTR50 at the L1CAM side, with "tc" and "gc" microhomologies at the duplication breakpoints, respectively. The duplicated segment was completely segregated from the grandmother to the patients. These results suggest that the duplication was generated by fork-stalling and template-switching at the AluSc and LTR50 sites. This is the first report to determine the size and nucleotide sequences of the duplicated segments at Xq28 of three generations of a family and provides the genotype-phenotype correlation of the patients harboring the specific duplicated segment. © 2014 Wiley Periodicals, Inc.


Hayashi K.,Nagoya University | Hayashi K.,Kanazawa University | Ozaki N.,Kanazawa University | Kawakita K.,Meiji University of Integrative Medicine | And 8 more authors.
Journal of Pain | Year: 2011

Myofascial pain syndrome (MPS) is an important clinical condition characterized by chronic muscle pain and a myofascial trigger point (MTrP) located in a taut band (TB). However, its pathogenic mechanism is still unclear. We developed an animal model relevant to conditions of MPS, and analyzed the mechanism of the muscle pain in this model. We applied eccentric contraction (EC) to a rat's gastrocnemius muscle (GM) for 2 weeks, and examined the mechanical withdrawal thresholds, histological changes, and expressions and contents of nerve growth factor (NGF). The mechanical withdrawal threshold decreased significantly at the next day of first EC and continued up to 9 days after EC. TBs were palpable at 3 to 8 days after initiation of EC. In EC animals, necrotic and regenerating muscle cells were found significantly more than in control animals. In EC animals, NGF expressions in regenerating muscle cells and NGF contents of GM were significantly higher than control animals. Administration of NGF receptor (TrkA) inhibitor K252a showed significant suppression of mechanical hyperalgesia in EC animals. Repeated EC induced persistent mechanical muscle hyperalgesia associated with TB. NGF expressed in regenerating muscle cells may have an important role in persistent mechanical muscle hyperalgesia which might be relevant to pathogenesis of MPS. Perspective: The present study shows that NGF expressed in regenerating muscle cells is involved in persistent muscular mechanical hyperalgesia. NGF-TrkA signaling in primary muscle afferent neurons may be one of the most important and promising targets for MPS. © 2011 by the American Pain Society.


Hirokawa M.,University of Tsukuba | Funahashi A.,Aichi Human Service Center | Itoh Y.,Aichi Human Service Center | Suzuki K.,University of Tsukuba
Proceedings - IEEE International Workshop on Robot and Human Interactive Communication | Year: 2015

Recent studies on autism spectrum disorders (ASD) have reported that positive emotions can be a good incentive for children with ASD to perform spontaneous positive social behaviors. Based on this findings, we propose an affective robot-assisted activity (ARAA) for fostering social interaction and communication skills among children with ASD by promoting their positive emotional responses through interaction with a robot. As it has been termed spectrum, every child has different social and affective characteristics that should be taken into account. However, due to difficulties in programming the robot's behavior, conventional RAA systems did not allow the therapist to customize the activity according to the characteristics of each individual. To tackle this problem, we developed a comprehensive framework of ARAA that consists of (i) a robot tele-operation method that allows a therapist to improvise a robot's behavior in real-time and (ii) a quantitative measurement method to describe social interaction within both behavioral and affective aspects. © 2014 IEEE.


Ito H.,Aichi Human Service Center | Morishita R.,Aichi Human Service Center | Tabata H.,Aichi Human Service Center | Nagata K.,Aichi Human Service Center | Nagata K.,Nagoya University
Methods in Cell Biology | Year: 2016

Correct neuronal migration is crucial for the brain architecture and function. During brain development, excitatory and inhibitory neurons generated in the ventricular zone (VZ) of the dorsal telencephalon and ganglionic medial eminence, respectively, move to their final destinations in tightly regulated spatiotemporal manners. While a variety of morphological methods have been applied to neurobiology, in utero electroporation (IUE) technique is one of the most powerful tools for rapid gain- and loss-of-function studies of brain development. This method enables us to introduce genes of interest into VZ progenitor and stem cells of rodent embryos, and to observe resulting phenotypes such as proliferation, migration, and cell morphology at later stages. In this chapter, we first summarize basic immunohistochemistry methods that are foundations for any advanced methods and showed data on the distribution of Sept6, Sept9, and Sept14 as examples. Then, IUE method is described where functional analyses of Sept14 during brain development are used as examples. We subsequently refer to the in vivo electroporation (IVE)-mediated gene transfer, which is conceptually the same method as IUE, into granule cells of hippocampal dentate gyrus in neonatal mice. Finally, an IUE-based time-lapse imaging method is explained as an advanced technique for the analyses of cortical neuron migration. IUE and IVE methods and the application would contribute greatly to the morphological analyses of septins as well as other molecules to elucidate their neuronal functions and pathophysiological roles in various neurological and psychiatric disorders. © 2016 Elsevier Inc.


Hirokawa M.,University of Tsukuba | Funahashi A.,Aichi Human Service Center | Itoh Y.,Aichi Human Service Center | Suzuki K.,University of Tsukuba
ACM/IEEE International Conference on Human-Robot Interaction | Year: 2014

This paper introduces a doll-type interface for real-time tele-operation of a humanoid robot in Robot-Assisted Activity (RAA) for children with Autism Spectrum Disorders (ASD). We developed a prototype of the interface and verified its usability by conducting RAA sessions with children with ASD.


PubMed | Aichi Human Service Center
Type: Journal Article | Journal: Biochimica et biophysica acta | Year: 2013

We have recently found that the membrane-associated guanylate kinase with inverted organization-1 (MAGI-1) was enriched in rat nervous tissues such as the glomeruli in olfactory bulb of adult rats and dorsal root entry zone in spinal cord of embryonic rats. In addition, we revealed the localization of MAGI-1 in the growth cone of the primary cultured rat dorsal root ganglion cells. These results point out the possibility that MAGI-1 is involved in the regulation of neurite extension or guidance. In this study, we attempted to reveal the physiological role(s) of MAGI-1 in neurite extension. We found that RNA interference (RNAi)-mediated knockdown of MAGI-1 caused inhibition of nerve growth factor (NGF)-induced neurite outgrowth in PC12 rat pheochromocytoma cells. To clarify the involvement of MAGI-1 in NGF-mediated signal pathway, we tried to identify binding partners for MAGI-1 and identified p75 neurotrophin receptor (p75NTR), a low affinity NGF receptor, and Shc, a phosphotyrosine-binding adaptor. These three proteins formed an immunocomplex in PC12 cells. Knockdown as well as overexpression of MAGI-1 caused suppression of NGF-stimulated activation of the Shc-ERK pathway, which is supposed to play important roles in neurite outgrowth of PC12 cells. These results indicate that MAGI-1 may act as a scaffolding molecule for NGF receptor-mediated signaling pathway.

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