Research Topics
Genomes and Genes
| N HattoriSummaryAffiliation: Juntendo University School of Medicine Country: Japan Publications
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Detail Information
Publications
Clinical heterogeneity of alpha-synuclein gene duplication in Parkinson's diseaseKenya Nishioka
Department of Neurology, Juntendo University School of Medicine, Hongo, Tokyo, Japan
Ann Neurol 59:298-309. 2006..The objective of this study was to assess the frequency of SNCA multiplications among autosomal dominant hereditary Parkinson's disease (ADPD)...
Toxic effects of dopamine metabolism in Parkinson's diseaseNobutaka Hattoria
Department of Neurology, Juntendo University School of Medicine, 2 1 1 Hongo, Bunkyo, Tokyo 113 8421, Japan
Parkinsonism Relat Disord 15:S35-8. 2009..In addition, HNE can modify alpha-synuclein (SNCA). Subsequently, this modification may trigger the aggregation of this protein. At a minimum, this modification could be associated with oligomer formation or fibrillation of SNCA...
Autosomal recessive juvenile parkinsonism: a key to understanding nigral degeneration in sporadic Parkinson's diseaseN Hattori
Department of Neurology, Juntendo University School of Medicine, Bunkyo, Tokyo, Japan
Neuropathology 20:S85-90. 2000..Our findings should enhance the exploration of the mechanisms of neuronal death in PD as well as other neurodegenerative disorders of which variable inclusion bodies are observed...
Animal models of Parkinson's disease: similarities and differences between the disease and modelsNobutaka Hattori
Department of Neurology, Juntendo University, School of Medicine, Tokyo, Japan
Neuropathology 27:479-83. 2007..Moreover, new PD models using neurotoxins have been reported. In this review, the similarities between human PD and PD models such as genetic mice and Drosophila models are reviewed...
Appropriate dosing of pergolide in monotherapy and adjunctive therapy in Parkinson's diseaseNobutaka Hattori
Department of Neurology, Juntendo University School of Medicine, Japan
Curr Opin Neurol 16:S21-5. 2003....
Familial Parkinson's disease: a hint to elucidate the mechanisms of nigral degenerationNobutaka Hattori
Department of Neurology, Juntendo University School of Medicine, 2 1 1 Hongo, Bunkyo, 113 0033, Tokyo, Japan
J Neurol 250:III2-10. 2003..Thus, identification and elucidation of the causative genes should enhance our understanding of the pathogenesis of not only familial PD, but also sporadic PD...
Point mutations (Thr240Arg and Gln311Stop) [correction of Thr240Arg and Ala311Stop] in the Parkin geneN Hattori
Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan
Biochem Biophys Res Commun 249:754-8. 1998..Identification of its mutation provides an important clue as to the role of the Parkin protein in degeneration of the substantia nigra in the brain of AR-JP patients...
Pathogenetic mechanisms of parkin in Parkinson's diseaseNobutaka Hattori
Department of Neurology, Juntendo University School of Medicine, Tokyo 113 8421, Japan
Lancet 364:722-4. 2004..Identification of the causative genes for familial Parkinson's diseases allow study of the pathogenesis of the disease at the molecular level...
Genotype in the 24-kDa subunit gene (NDUFV2) of mitochondrial complex I and susceptibility to Parkinson diseaseN Hattori
Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan
Genomics 49:52-8. 1998..40 (95% CI: 1.18-4.88). NDUFV2 constitutes one genetic risk factor for PD, and the mutation may well be a cause of complex I deficiency in this disease...
Mutations in the parkin gene cause autosomal recessive juvenile parkinsonismT Kitada
Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan
Nature 392:605-8. 1998..Mutations in the newly identified gene appear to be responsible for the pathogenesis of AR-JP, and we have therefore named the protein product 'Parkin'...
Protective role of hematopoietic prostaglandin D synthase in transient focal cerebral ischemia in miceM Liu
Research Institute for Disease of Old Age, Juntendo University School of Medicine, 2 1 1 Hongo, Bunkyo ku, Tokyo 113 8421, Japan
Neuroscience 163:296-307. 2009..Our results demonstrated that the neuroprotective effects of HPGDS in our model are mediated by suppression of activation and infiltration of inflammatory cells...
Age associated axonal features in HNPP with 17p11.2 deletion in JapanH Koike
Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya 466-8550, Japan
J Neurol Neurosurg Psychiatry 76:1109-14. 2005..Unlike Charcot-Marie-Tooth disease type 1A, age associated axonal damage may not occur unless the nerves are subjected to compression...
Expression of glial cell line-derived neurotrophic factor and GDNFR-alpha mRNAs in human peripheral neuropathiesM Yamamoto
Department of Neurology, Nagoya University School of Medicine, Japan
Brain Res 809:175-81. 1998..The GDNF and GDNFR-alpha expression in the diseased human nerves is regulated by an underlying pathology-related process, and could play a role in peripheral nerve repair...
Colocalization of Bcl-2 and 4-hydroxynonenal modified proteins in microglial cells and neurons of rat brain following transient focal ischemiaT Urabe
Department of Neurology, Juntendo University School of Medicine, Bunkyo, Tokyo, Japan
Neurosci Lett 247:159-62. 1998..Bcl-2 may play an important role in the antioxidant system promoting survival of the neurons and activated microglia following reperfusion injury...
Ataxic vs painful form of paraneoplastic neuropathyY Oki
Department of Neurology, Nagoya University, Graduate School of Medicine, Nagoya, Japan
Neurology 69:564-72. 2007..To characterize the clinicopathologic features of ataxic and painful forms of paraneoplastic neuropathy...
Pathology of early- vs late-onset TTR Met30 familial amyloid polyneuropathyH Koike
Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan
Neurology 63:129-38. 2004..CONCLUSION: The pathology of early- and late-onset FAP TTR Met30 correlated well with differences in clinical findings...
Developmental changes in the expression of parkin and UbcR7, a parkin-interacting and ubiquitin-conjugating enzyme, in rat brainM Wang
Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan
J Neurochem 77:1561-8. 2001..Co-expression of UbcR7 with parkin suggests that UbcR7 may interact with parkin in vivo for ubiquitination of yet unidentified target protein(s)...
Clinicogenetic study of PINK1 mutations in autosomal recessive early-onset parkinsonismY Li
Department of Neurology, Juntendo University School of Medicine, 2 1 1 Hongo, Bunkyo, Tokyo 113 0033, Japan
Neurology 64:1955-7. 2005..Clinically, the patients with the deletion had dementia. Thus, early-onset PD with dementia may be considered PINK1-linked parkinsonism. Furthermore, patients with PINK1 mutations form 8.9% of parkin- and DJ-1-negative ARPD families...
Immunohistochemical and subcellular localization of Parkin protein: absence of protein in autosomal recessive juvenile parkinsonism patientsH Shimura
Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan
Ann Neurol 45:668-72. 1999..Parkin protein was not decreased in the brains of sporadic PD patients. Immunoreactivity was detected in a few Lewy bodies. Parkin protein was located in both the Golgi complex and cytosol...
Neuropathic pain correlates with myelinated fibre loss and cytokine profile in POEMS syndromeH Koike
Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan
J Neurol Neurosurg Psychiatry 79:1171-9. 2008..To reveal characteristic clinicopathological correlates of polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy and skin changes (POEMS) syndrome...
Single nucleotide polymorphism of TAG-1 influences IVIg responsiveness of Japanese patients with CIDPM Iijima
Department of Neurology, Nagoya University Graduate School of Medicine, Aichi, Japan
Neurology 73:1348-52. 2009..In this study, we examined whether particular genetic factors influence the therapeutic responsiveness of patients with CIDP...
Clinicopathologic features of nonsystemic vasculitic neuropathy and microscopic polyangiitis-associated neuropathy: a comparative studyM Sugiura
Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya 466-8550, Japan
J Neurol Sci 241:31-7. 2006..Further study is needed to clarify the pathogenesis of NSVN and its place in the vasculitic spectrum of diseases...
Familial Parkinson's disease. Alpha-synuclein and parkinY Mizuno
Department of Neurology, Juntendo University School of Medicine, Tokyo 113-8421, Japan
Adv Neurol 86:13-21. 2001..In addition, in sporadic PD, normal alpha-synuclein shows an increased tendency to self-aggregate. Thus, altered axonal transport of presynaptic proteins appears to play a crucial role in neurodegeneration in PD...
Parkin and Parkinson's diseaseY Mizuno
Department of Neurology, Juntendo University School of Medicine, Bunkyo, Tokyo, Japan
Curr Opin Neurol 14:477-82. 2001..In this review article, we evaluate the developments in this area published since 1 February 2000...
Painful alcoholic polyneuropathy with predominant small-fiber loss and normal thiamine statusH Koike
Department of Neurology, Nagoya University School of Medicine, Japan
Neurology 56:1727-32. 2001..Sensory-dominant involvement with prominent neuropathic pain is characteristic of alcoholic neuropathy when thiamine deficiency is not involved, supporting the view of direct neurotoxic effect by alcohol or its metabolites...
Neuronal intranuclear hyaline inclusion disease showing motor-sensory and autonomic neuropathyJ Sone
Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya 466-8550, Japan
Neurology 65:1538-43. 2005..Intranuclear hyaline inclusions in Schwann cells and in the myenteric plexus may permit antemortem diagnosis of NIHID...
Postgastrectomy polyneuropathy with thiamine deficiencyH Koike
Department of Neurology, Nagoya University School of Medicine, Nagoya 466-8550, Japan
J Neurol Neurosurg Psychiatry 71:357-62. 2001..CONCLUSIONS: Various symptoms were seen in patients with postgastrectomy neuropathy. Thiamine deficiency should be considered in the differential diagnosis of motor-sensory polyneuropathy after gastrectomy...
PAL31 expression in rat trophoblast giant cellsM Oda
Laboratory of Cellular Biochemistry, Animal Resource Sciences/Veterinary Medical Sciences, University of Tokyo, 1-1-1 Yayoi, Bunkyo-ku, Tokyo, 113-8657, Japan
Biochem Biophys Res Commun 287:721-6. 2001..PAL31 is suggested to play a role in the endoreduplication distinct from the usual DNA duplication...
Pathology-related differential expression regulation of NGF, GDNF, CNTF, and IL-6 mRNAs in human vasculitic neuropathyM Yamamoto
Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya 466-8550, Japan
Muscle Nerve 24:830-3. 2001..These findings indicate that these neurotrophic factors are differentially expressed temporally and spatially in the vasculitic nerve lesion by an underlying pathology-related process...
Parkin is associated with cellular vesiclesS I Kubo
Department of Neurology, Juntendo University School of Medicine, 2-1-1 Hongo, Bunkyo, Tokyo 113-8421, Japan
J Neurochem 78:42-54. 2001..We demonstrated the ability of parkin to bind to the membranes through a broad region except for the ubiquitin-like domain. The significance of SV localization of parkin is discussed...
Accumulation of 4-hydroxynonenal-modified proteins in hippocampal CA1 pyramidal neurons precedes delayed neuronal damage in the gerbil brainT Urabe
Department of Neurology, Juntendo University School of Medicine, 113 0033, Tokyo, Japan
Neuroscience 100:241-50. 2000..We conclude that 4-hydroxy-2-nonenal may be a key mediator of the oxidative stress-induced neuronal signaling pathway and may have an important role in modifying delayed neuronal death...
Age of onset influences clinical features of chronic inflammatory demyelinating polyneuropathyN Hattori
Department of Neurology, Nagoya University School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466-8550, Japan
J Neurol Sci 184:57-63. 2001..Clinical features of CIDP differ by age of onset, which is a factor to consider in diagnosis, therapy, and prognosis...
Familial Parkinson disease gene product, parkin, is a ubiquitin-protein ligaseH Shimura
Department of Neurology, Juntendo University School of Medicine, Bunkyo ku, Tokyo, Japan
Nat Genet 25:302-5. 2000....
PARK6-linked autosomal recessive early-onset parkinsonism in Asian populationsY Hatano
Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan
Neurology 63:1482-5. 2004..88 at D1S2732. The results indicate worldwide distribution of PARK6-linked parkinsonism...
Crucial role for Ser133-phosphorylated form of cyclic AMP-responsive element binding protein signaling in the differentiation and survival of neural progenitors under chronic cerebral hypoperfusionN Miyamoto
Department of Neurology, Juntendo University School of Medicine, 2 1 1 Hongo, Bunkyo ku, Tokyo 113 0033, Japan
Neuroscience 162:525-36. 2009..Our results indicated that cAMP-responsive element binding protein signaling is a key mediator of neurogenesis after prolonged hypoperfusion and provide the basis for new regenerative therapies for ischemic brain injury...
PAL31, a nuclear protein required for progression to the S phaseW Sun
Laboratory of Cellular Biochemistry, Animal Resource Sciences Veterinary Medical Sciences, University of Tokyo, 1 1 1 Yayoi, Bunkyo ku, Tokyo, 113 8657, Japan
Biochem Biophys Res Commun 280:1048-54. 2001..Furthermore, the antisense oligonucleotide for PAL31 severely inhibited the proliferation of Nb2 cells by inhibiting cells progressing to the S phase. Thus, PAL31 is a nuclear protein associated with cell cycle progression...
Cilostazol attenuates ischemic brain injury and enhances neurogenesis in the subventricular zone of adult mice after transient focal cerebral ischemiaY Tanaka
Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan
Neuroscience 171:1367-76. 2010..The results indicated that cilostazol enhanced neural progenitor cell generation in both ipsilateral SVZ and peri-infarct area through CREB-mediated signaling pathway after focal ischemia...
Clinical and electrophysiologic correlates of IVIg responsiveness in CIDPM Iijima
Department of Neurology, Nagoya University Graduate School of Medicine, Tsurumai, Nagoya, Japan
Neurology 64:1471-5. 2005..Male gender, longer disease duration, and slow progression of symptoms were also associated with IVIg unresponsiveness. Features suggesting axonal dysfunction in peripheral nerves indicated IVIg unresponsiveness in CIDP...
DNA methylation variation in cloned miceJ Ohgane
Cellular Biochemistry, Animal Resource Sciences/Veterinary Medical Sciences, The University of Tokyo, Tokyo, Japan
Genesis 30:45-50. 2001..Individual cloned animals have different methylation aberrations. In other words, cloned animals are by no means perfect copies of the original animals as far as the methylation status of genomic DNA is concerned...
Intravenous immunoglobulin therapy markedly ameliorates muscle weakness and severe pain in proximal diabetic neuropathyY Kawagashira
Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya 466 8550, Japan
J Neurol Neurosurg Psychiatry 78:899-901. 2007..The present case suggests that IVIg therapy may be effective for the relief of pain in PDN...
Prevalence and incidence rates of chronic inflammatory demyelinating polyneuropathy in the Japanese populationM Iijima
Department of Neurology, Nagoya University Graduate School of Medicine, 65 Tsurumai Cho, Showa Ku, 466 8550 Nagoya, Japan
J Neurol Neurosurg Psychiatry 79:1040-3. 2008..To characterise the epidemiological features of chronic inflammatory demyelinating polyneuropathy (CIDP) in the Japanese population, this study performed a nationwide assessment of the prevalence and incidence rates in Japan...
A microdeletion of D6S305 in a family of autosomal recessive juvenile parkinsonism (PARK2)H Matsumine
Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan
Genomics 49:143-6. 1998..An exon search in a deleted segment or in the relatively small-sized genomic clones harboring D6S305 may enormously facilitate the cloning procedure of the ARJP gene...
Phenotypic spectrum of patients with PLA2G6 mutation and PARK14-linked parkinsonismH Yoshino
Research Institute for Diseases of Old Age, Juntendo University School of Medicine, Tokyo, Japan
Neurology 75:1356-61. 2010..Recently, PLA2G6 was also reported as the causative gene for early-onset PARK14-linked dystonia-parkinsonism...
PARK9-linked parkinsonism in eastern Asia: mutation detection in ATP13A2 and clinical phenotypeY P Ning
Department of Neurology, Juntendo University School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo 113-8421, Japan
Neurology 70:1491-3. 2008
A novel missense mutation in the early growth response 2 gene associated with late-onset Charcot--Marie--Tooth disease type 1T Yoshihara
Department of Neurology, Nagoya University School of Medicine, Nagoya 466, Japan
J Neurol Sci 184:149-53. 2001..This report suggests that the EGR2 mutation represents divergent phenotypes at codon 381, which may be a mutation hotspot...
[Parkin gene and its function; a key to understand nigral degeneration]N Hattori
Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan
Rinsho Shinkeigaku 39:1259-61. 1999..Parkin protein was located in both Golgi complex and cytosol. Taken together, the Parkin protein may play a role in vesicular transport system in association with the Golgi complex...
Wide range of lineages of cells expressing nerve growth factor mRNA in the nerve lesions of patients with vasculitic neuropathy: an implication of endoneurial macrophage for nerve regenerationN Mitsuma
Department of Neurology, Nagoya University Graduate School of Medicine, 65 Tsurumai, Showa-ku, Nagoya 466-8550, Japan
Neuroscience 129:109-17. 2004....
Clinicopathologic study of a SNCA gene duplication patient with Parkinson disease and dementiaT Obi
Department of Neurology, Shizuoka Institute of Epilepsy and Neurological Disorders, Tokyo, Japan
Neurology 70:238-41. 2008
An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val)K Misu
Department of Neurology, Nagoya University School of Medicine, 65 Tsurumai cho Showa ku Nagoya 466 8550, Japan
J Neurol Neurosurg Psychiatry 69:806-11. 2000..Seven families were studied with an axonal form of Charcot-Marie-Tooth disease (CMT) associated with mutations in the peripheral myelin protein zero (MPZ) gene-Thr124Met or Asp75Val...
Edaravone attenuates white matter lesions through endothelial protection in a rat chronic hypoperfusion modelY Ueno
Department of Neurology, Juntendo University School of Medicine, 2 1 1 Hongo, Bunkyo ku, Tokyo, 113 8421, Japan
Neuroscience 162:317-27. 2009....
Expression of mRNAs for ciliary neurotrophic factor (CNTF), leukemia inhibitory factor (LIF), interleukin-6 (IL-6), and their receptors (CNTFR alpha, LIFR beta, IL-6R alpha, and gp130) in human peripheral neuropathiesY Ito
Department of Neurology, Nagoya University School of Medicine, Japan
Neurochem Res 26:51-8. 2001....
Sjögren's syndrome associated painful sensory neuropathy without sensory ataxiaK Mori
Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan
J Neurol Neurosurg Psychiatry 74:1320-2. 2003
Intravenous immunoglobulin treatment in painful sensory neuropathy without sensory ataxia associated with Sjögren's syndromeM Kizawa
Department of Neurology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho Showa-ku, Nagoya 466-8550, Japan
J Neurol Neurosurg Psychiatry 77:967-9. 2006..Other patients with painful sensory neuropathy associated with Sjögren's syndrome may also be candidates for intravenous Ig treatment...
Structural organization and chromosomal localization of the human nuclear gene (NDUFV2) for the 24-kDa iron-sulfur subunit of complex I in mitochondrial respiratory chainN Hattori
Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan
Biochem Biophys Res Commun 216:771-7. 1995..The sequences matching completely with the NRF-1 binding site and Mt elements were not identified in the flanking region. This gene was assigned to human chromosome 18 at region p11.3, by fluorescent in situ hybridization...
[A 64-year-old man with parkinsonism as an initial symptom followed by dementia associated with marked abnormal behaviours]A Suzuki
Department of Neurology, Juntendo University School of Medicine, 2-1-1 Hongo, Bunkyo, Tokyo 113-8421, Japan
No To Shinkei 53:1075-87. 2001..However, the inferior olivary nucleus was intact...
Prognosis of Parkinson's disease: time to stage III, IV, V, and to motor fluctuationsKenichi Sato
Department of Neurology, Juntendo University School of Medicine, Bunkyo, Tokyo, Japan
Mov Disord 21:1384-95. 2006..Not many studies are available in the literature on the long-term outcome of PD, and our data would be useful as a reference...
Recessive Parkinson's diseaseShin-ichiro Kubo
Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan
Mov Disord 21:885-93. 2006..Here, we review recent advances in knowledge about genes associated with recessive PD, including parkin, PINK1, and DJ-1...
Haploinsufficiency at the alpha-synuclein gene underlies phenotypic severity in familial Parkinson's diseaseHirokazu Kobayashi
Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan
Brain 126:32-42. 2003..Furthermore, these findings suggest that haploinsufficiency of alpha-synuclein mutations may contribute to disease progression in these forms of familial Parkinson's disease...
Mutations for Gaucher disease confer high susceptibility to Parkinson diseaseJun Mitsui
Department of Neurology, University of Tokyo Graduate School of Medicine, 7 3 1 Hongo, Bunkyo ku, Tokyo 113 8655, Japan
Arch Neurol 66:571-6. 2009..Increased frequency of pathogenic variants in GBA, the causative gene for Gaucher disease, has been suggested to be associated with Parkinson disease (PD)...
Familial Parkinsonism with digenic parkin and PINK1 mutationsManabu Funayama
Research Institute for Diseases of Old Age, Juntendo University School of Medicine, Bunkyo ku, Tokyo, Japan
Mov Disord 23:1461-5. 2008..These findings indicate that PINK1 mutation might modify parkin mutation-positive Parkinsonism, and PINK1 mutations might be associated with psychiatric disorders...
Mutation analysis for DJ-1 in sporadic and familial parkinsonism: screening strategy in parkinsonismHiroyuki Tomiyama
Department of Neurology, Juntendo University School of Medicine, 2 1 1 Hongo, Bunkyo, Tokyo, Japan
Neurosci Lett 455:159-61. 2009....
Correlation between levels of pigment epithelium-derived factor and vascular endothelial growth factor in the striatum of patients with Parkinson's diseaseToru Yasuda
Research Institute for Diseases of Old Ages, Juntendo University, Japan
Exp Neurol 206:308-17. 2007..The correlation between PEDF and VEGF striatal levels in PD patients suggests that concerted neurotrophic functions of these factors or structural changes in blood vessel walls play an important role in the pathophysiology of PD...
Pharmacokinetics and effect of food after oral administration of prolonged-release tablets of ropinirole hydrochloride in Japanese patients with Parkinson's diseaseN Hattori
Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan
J Clin Pharm Ther 37:571-7. 2012....
DNA methylation regulates placental lactogen I gene expressionJ H Cho
Laboratory of Cellular Biochemistry, Animal Resource Sciences/Veterinary Medical Sciences, University of Tokyo, 1-1-1 Yayoi, Bunkyo-ku, Tokyo, 113-8657, Japan
Endocrinology 142:3389-96. 2001..These results provide evidence that change in DNA methylation is the fundamental mechanism regulating the tissue-specific expression of the rat placental lactogen I gene...
Unmet needs of patients with Parkinson's disease: interview survey of patients and caregiversT Hatano
Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan
J Int Med Res 37:717-26. 2009....
ABO-incompatible auxiliary partial orthotopic liver transplant for late-onset familial amyloid polyneuropathyH Watanabe
Department of Neurology, Nagoya University Graduate School of Medicine, 466-8550, Nagoya, Japan
J Neurol Sci 195:63-6. 2002..APOLT was chosen so the residual liver could sustain the patient in the event of hyperacute rejection. OLT is applicable to late-onset FAP transthyretin Met30, and APOLT can be considered in ABO-incompatible cases...
Prevalence of GJB2 causing recessive profound non-syndromic deafness in Japanese childrenChieri Hayashi
Department of Otorhinolaryngology, Juntendo University School of Medicine, 2 1 1 Hongo, Bunkyo ku, Tokyo 113 8421, Japan
Int J Pediatr Otorhinolaryngol 75:211-4. 2011..To clarify the relation between profound non-syndromic deafness and GJB2 mutation in Japanese children, we performed genetic testing for GJB2...
Isolated proximal leg paresis due to a small cortical infarctionKazuyuki Noda
Department of Neurology, Juntendo University Shizuoka Hospital, Izunokuni
Intern Med 49:1633-6. 2010..It is clinically important to pay close attention to the contralateral top of the motor cortex when examining pure motor monoparesis of a proximal part of a lower extremity...
Posterior hypoperfusion in Parkinson's disease with and without dementia measured with arterial spin labeling MRIKoji Kamagata
Department of Radiology, Juntendo University School of Medicine, Tokyo, Japan
J Magn Reson Imaging 33:803-7. 2011..To determine whether quantitative arterial spin labeling (ASL) can be used to evaluate regional cerebral blood flow in Parkinson's disease with dementia (PDD) and without dementia (PD)...
Visual impairment in Parkinson's disease treated with amantadine: case report and review of the literatureShin Ichiro Kubo
Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan
Parkinsonism Relat Disord 14:166-9. 2008..The present report alerts neurologists and physicians in general to the peculiar ophthalmologic side effect of amantadine...
The frequency of cardiac valvular regurgitation in Parkinson's diseaseKazuo Yamashiro
Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan
Mov Disord 23:935-41. 2008..None of our patients showed severe regurgitation or was operated for valvular heart disease. The question as to whether or not longer duration of low dose dopamine agonist treatment would yield the same results needs further studies...
Mobile aortic plaques are a cause of multiple brain infarcts seen on diffusion-weighted imagingYuji Ueno
Stroke Center, Department of Stroke Medicine, Kawasaki Medical School, Okayama, Japan
Stroke 38:2470-6. 2007..Recently, mobile aortic plaques (MAPs) have been proposed as embolic sources. However, the clinical characteristics of patients with MAPs are unclear...
Prevalence of abnormal glucose metabolism and insulin resistance among subtypes of ischemic stroke in Japanese patientsTakao Urabe
Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan
Stroke 40:1289-95. 2009..The purpose was to assess the prevalence of disorders of glucose metabolism and insulin resistance in Japanese ischemic stroke patients with no history of diabetes by performing 75-gram oral glucose tolerance test (OGTT)...
[Molecular genetics of PINK1]Manabu Funayama
Research Institute eases of Old Ages, Juntendo University School of Medicine, 2 1 1 Hongo, Bunkyo ku, Tokyo 113 8421, Japan
Brain Nerve 59:831-8. 2007..In the other word, the mitochondrion is a good target for elucidating the pathogenesis of not only sporadic form but also monogenic form of PD...
Parkinson's disease with and without REM sleep behaviour disorder: are there any clinical differences?Asako Yoritaka
Department of Neurology, Juntendo Urayasu Hospital, Tokyo, Japan
Eur Neurol 61:164-70. 2009..In the early stage, RBD and autonomic system dysfunction are important factors in the progression of PD...
Progress in the pathogenesis and genetics of Parkinson's diseaseYoshikuni Mizuno
Department of Neurology, Juntendo University School of Medicine, 2 1 1 Hongo Bunkyo, Tokyo 113, Japan
Philos Trans R Soc Lond B Biol Sci 363:2215-27. 2008..Studies on the molecular mechanisms of nigral neuronal death in familial forms of PD will contribute further on the understanding of the pathogenesis of sporadic PD...
Extensive hemispheric lesions with radiological evidence of blood-brain barrier integrity in a patient with neuromyelitis opticaShinji Saiki
Department of Neurology, Juntendo University School of Medicine, 2 1 1 Hongo, Bunkyo ku, Tokyo, 113 8421, Japan
J Neurol Sci 284:217-9. 2009..The findings suggest possible involvement of deficient water elimination associated with seropositivity to NMO-IgG in the induction of vasogenic edema even in the presence of intact and functional BBB...
Genotype-phenotype correlation: familial Parkinson diseaseHideo Mori
Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan
Neuropathology 23:90-4. 2003..Investigations of these genes in familial PD have expanded their clinical and pathological phenotypes. However, to clarify the effect of mutations on these phenotypes, additional post-mortem neuropathological studies are required...
Pseudo-autosomal dominant inheritance of PARK2: two families with parkin gene mutationsTomonori Kobayashi
Department of Neurology, Juntendo University School of Medicine, 2 1 1, Hongo, Bunkyo, Tokyo 113 8421, Japan
J Neurol Sci 207:11-7. 2003..We conclude that PARK2 cannot be excluded even if the mode of inheritance appears as autosomal dominant, when the affected patients are young...
Geographic and ethnic differences in frequencies of two polymorphisms (D/N394 and L/I272) of the parkin gene in sporadic Parkinson's diseaseXiaobing Li
Department of Neurology, Juntendo University School of Medicine, 2 1 1 Hongo, Bunkyo, 113 8421, Tokyo, Japan
Parkinsonism Relat Disord 11:485-91. 2005..Our results suggest that the frequencies of parkin polymorphisms are different among Asians and Caucasians...
Polymorphism of the lipoprotein lipase gene and risk of atherothrombotic cerebral infarction in the JapaneseY Shimo-Nakanishi
Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan
Stroke 32:1481-6. 2001..We investigated whether these polymorphisms are associated with increased risk of ischemic cerebrovascular disease (CVD)...
Induction and selective accumulation of mutant ubiquitin in CA1 pyramidal neurons after transient global ischemiaK Yamashiro
Department of Neurology, Juntendo University School of Medicine, 2 1 1 Hongo, Bunkyo ku, Tokyo 113 0033, Japan
Neuroscience 147:71-9. 2007..Our results indicate induction and selective accumulation of UBB(+1) protein in dying neurons of the CA1 region and suggest that UBB(+1) expression may be induced by proteasomal dysfunction after transient global ischemia...
Focal cerebral ischemia/reperfusion injury in mice induces hematopoietic prostaglandin D synthase in microglia and macrophagesM Liu
Department of Neurology, Juntendo University School of Medicine 2 1 1, Hongo, Bunkyo ku, Tokyo 113 0033, Japan
Neuroscience 145:520-9. 2007..We speculate that hematopoietic prostaglandin D synthase in the brain has different functions during early and late phases of ischemia...
A case of epidermolysis bullosa simplex with a newly found missense mutation and polymorphism in the highly conserved helix termination motif among type I keratins, which was previously reported as a pathogenic missense mutationN Hattori
Department of Dermatology, Fraternity Memorial Hospital, Tokyo, Japan
Br J Dermatol 155:1062-3. 2006
Accumulation of somatic mutation in mitochondrial DNA extracted from peripheral blood cells in diabetic patientsT Nomiyama
Department of Medicine, Metabolism and Endocrinology, School of Medicine, Juntendo University, Tokyo, Japan
Diabetologia 45:1577-83. 2002..This somatic mutation could possibly be a new marker for estimating the duration of diabetes...
Chronic inflammatory demyelinating polyneuropathy presenting with features of GBSK Mori
Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan
Neurology 58:979-82. 2002..Patients with apparent GBS who show persistent symptoms may benefit from corticosteroids or other treatment that is beneficial in the management of CIDP...
Leucine-rich repeat kinase 2 G2385R variant is a risk factor for Parkinson disease in Asian populationManabu Funayama
Research Institute for Diseases of Old Age, Department of Neurology, Juntendo University School of Medicine, Bunkyo ku, Tokyo, and Department of Neurology, Kagawa Prefectural Central Hospital, Takamatsu, Japan
Neuroreport 18:273-5. 2007..24x10(-4), odds ratio 2.63, 95% confidence interval 1.56-4.35). Our results suggest that the G2385R variant is a risk factor for sporadic Parkinson disease in the Asian population...
Effects of UCH-L1 on alpha-synuclein over-expression mouse model of Parkinson's diseaseToru Yasuda
Research Institute for Diseases of Old Age, Juntendo University, Tokyo, Japan
J Neurochem 108:932-44. 2009..Our results support the hypothesis that PARK5 is caused by a gain-of-toxic-function of UCH-L1(Ile93Met) mutant, and suggest that regulation of UCH-L1 in nigral DA cells could be a future target for treatment of PD...
Mutation analyses in amyotrophic lateral sclerosis/parkinsonism-dementia complex of the Kii peninsula, JapanHiroyuki Tomiyama
Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan
Mov Disord 23:2344-8. 2008..However, the familial aggregation and lack of any environment factors suggest that Kii ALS/PDC is caused by other yet unidentified genetic factors...
Clinicogenetic study of mutations in LRRK2 exon 41 in Parkinson's disease patients from 18 countriesHiroyuki Tomiyama
Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan
Mov Disord 21:1102-8. 2006..Clinical phenotypes including psychosis, dementia, and MIBG ratios are also heterogeneous, similar to neuropathology, in PD associated with LRRK2 mutations...
Expanding the clinical phenotype of SNCA duplication carriersKenya Nishioka
Department of Neurology, Juntendo University School of Medicine, Bunkyo ku, Tokyo, Japan
Mov Disord 24:1811-9. 2009..Further studies of SNCA duplication carriers will help identify disease-modifiers and may open novel avenues for future treatment...
Patent foramen ovale with atrial septal aneurysm may contribute to white matter lesions in stroke patientsYuji Ueno
Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan
Cerebrovasc Dis 30:15-22. 2010..The purpose of the present study was to assess the contribution of embolic etiologies, patent foramen ovale (PFO) and atrial septal aneurysm (ASA), to cerebral white matter lesions (WMLs) in ischemic stroke patients...
Novel PINK1 mutations in early-onset parkinsonismYasuko Hatano
Department of Neurology, Juntendo University School of Medicine, Tokyo
Ann Neurol 56:424-7. 2004..All sites of mutations were novel, suggesting that PINK1 may be the second most common causative gene next to parkin in parkinsonism with the recessive mode of inheritance...
Correlation between depressive symptoms and nocturnal disturbances in Japanese patients with Parkinson's diseaseKeisuke Suzuki
Department of Neurology, Dokkyo Medical University, 880 Kitakobayashi, Mibu, Tochigi 321 0293, Japan
Parkinsonism Relat Disord 15:15-9. 2009....
Excessive daytime sleepiness and sleep episodes in Japanese patients with Parkinson's diseaseKeisuke Suzuki
Department of Neurology, Dokkyo Medical University, 880 Kitakobayashi, Mibu, Tochigi 321 0293, Japan
J Neurol Sci 271:47-52. 2008..ESS score of >or=10 had 75% sensitivity and 82.4% specificity for sleep episodes. These results suggest that sleepiness in PD is dependent on disease itself and dopaminergic treatment rather than nocturnal disturbances...
LRRK2 P755L variant in sporadic Parkinson's diseaseHiroyuki Tomiyama
Department of Neurology, Juntendo University School of Medicine, 2 1 1 Hongo, Bunkyo ku, Tokyo 113 8421, Japan
J Hum Genet 53:1012-5. 2008..80, chi(2) = 0.064). No other variants were found in exon 19. Together with previous reports, our extended case-controlled study of large sample size suggests that LRRK2 P755L is a non-disease-associated polymorphism in PD patients...
Accumulation of somatic mutation in mitochondrial DNA and atherosclerosis in diabetic patientsTakashi Nomiyama
Department of Medicine, Metabolism and Endocrinology, Juntendo University School of Medicine, Tokyo, Japan
Ann N Y Acad Sci 1011:193-204. 2004..In conclusion, diabetes accelerates the accumulation of the somatic A3243G mutation in mitochondrial DNA, and this somatic mutation may be a marker for the duration of diabetes and atherosclerosis...
Age at onset influences on wide-ranged clinical features of sporadic amyotrophic lateral sclerosisNaoki Atsuta
Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan
J Neurol Sci 276:163-9. 2009..To profile the detailed clinical features of sporadic amyotrophic lateral sclerosis (ALS) on large-scale samples in Japan...
[Parkin gene: its mutations and function]Nobutaka Hattori
Department of Neurology, Juntendo University School of Medicine
Rinsho Shinkeigaku 42:1077-81. 2002..The question is accumulation of which substrates are responsible for the nigral neuronal death in Park 2 linked brain...
No evidence for pathogenic role of GIGYF2 mutation in Parkinson disease in Japanese patientsLin Li
Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan
Neurosci Lett 479:245-8. 2010..In summary, we found no evidence for PD-associated roles of GIGYF2 mutations. Our data suggest that GIGYF2 is unlikely to play a major role in PD in Japanese patients, similar to other populations...
Programmed cell death-2 isoform1 is ubiquitinated by parkin and increased in the substantia nigra of patients with autosomal recessive Parkinson's diseaseJiro Fukae
Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan
FEBS Lett 583:521-5. 2009..Furthermore, accumulation of PDCD2-1 was found in the SN of ARPD as well as in sporadic PD, suggesting that common failure of the ubiquitin-proteasome system is associated with neuronal death in both ARPD and sporadic PD...
