Yoshio Tsuboi

Summary

Affiliation: Fukuoka University
Country: Japan

Publications

  1. pmc Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17)
    Zbigniew K Wszolek
    Department of Neurology, Mayo Clinic, FL, USA
    Orphanet J Rare Dis 1:30. 2006
  2. pmc Alcohol drinking and risk of Parkinson's disease: a case-control study in Japan
    Wakaba Fukushima
    Department of Public Health, Osaka City University Graduate School of Medicine, Osaka, Japan
    BMC Neurol 10:111. 2010
  3. doi request reprint Continuous intraventricular infusion of pentosan polysulfate: clinical trial against prion diseases
    Yoshio Tsuboi
    Department of Neurology, Fukuoka University, Fukuoka, Japan
    Neuropathology 29:632-6. 2009
  4. doi request reprint Prevalence of restless legs syndrome in a Japanese elderly population
    Yoshio Tsuboi
    Department of Neurology, Fukuoka University, Fukuoka, Japan
    Parkinsonism Relat Disord 15:598-601. 2009
  5. ncbi request reprint Neuropathology of familial tauopathy
    Yoshio Tsuboi
    Fifth Department of Internal Medicine, Fukuoka University, 7 45 1 Nanakuma, Johnan ku, Fukuoka 814 0180, Japan
    Neuropathology 26:471-4. 2006
  6. ncbi request reprint Diffusion-weighted MRI in familial Creutzfeldt-Jakob disease with the codon 200 mutation in the prion protein gene
    Yoshio Tsuboi
    Fifth Department of Internal Medicine, Fukuoka University School of Medicine, 7 45 1 Nanakuma, Fukuoka 814 0180, Japan
    J Neurol Sci 232:45-9. 2005
  7. ncbi request reprint Neurodegeneration involving putative respiratory neurons in Perry syndrome
    Yoshio Tsuboi
    Department of Neurology, Fukuoka University, Fukuoka, Japan
    Acta Neuropathol 115:263-8. 2008
  8. doi request reprint Lack of association between BST1 polymorphisms and sporadic Parkinson's disease in a Japanese population
    Yoshihiro Miyake
    Department of Preventive Medicine and Public Health, Faculty of Medicine, Fukuoka University, Japan
    J Neurol Sci 323:162-6. 2012
  9. doi request reprint SNCA polymorphisms, smoking, and sporadic Parkinson's disease in Japanese
    Yoshihiro Miyake
    Department of Preventive Medicine and Public Health, Faculty of Medicine, Fukuoka University, Fukuoka 814 0180, Japan
    Parkinsonism Relat Disord 18:557-61. 2012
  10. pmc Genetic polymorphisms involved in dopaminergic neurotransmission and risk for Parkinson's disease in a Japanese population
    Chikako Kiyohara
    Department of Preventive Medicine, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan
    BMC Neurol 11:89. 2011

Detail Information

Publications63

  1. pmc Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17)
    Zbigniew K Wszolek
    Department of Neurology, Mayo Clinic, FL, USA
    Orphanet J Rare Dis 1:30. 2006
    ..The prognosis and rate of the disease's progression vary considerably among individual patients and genetic kindreds, ranging from life expectancies of several months to several years, and, in exceptional cases, as long as two decades...
  2. pmc Alcohol drinking and risk of Parkinson's disease: a case-control study in Japan
    Wakaba Fukushima
    Department of Public Health, Osaka City University Graduate School of Medicine, Osaka, Japan
    BMC Neurol 10:111. 2010
    ..We examined the relationship between alcohol intake and PD among Japanese subjects using data from a case-control study...
  3. doi request reprint Continuous intraventricular infusion of pentosan polysulfate: clinical trial against prion diseases
    Yoshio Tsuboi
    Department of Neurology, Fukuoka University, Fukuoka, Japan
    Neuropathology 29:632-6. 2009
    ....
  4. doi request reprint Prevalence of restless legs syndrome in a Japanese elderly population
    Yoshio Tsuboi
    Department of Neurology, Fukuoka University, Fukuoka, Japan
    Parkinsonism Relat Disord 15:598-601. 2009
    ..To estimate the prevalence of restless leg syndrome (RLS) in elderly Japanese people by means of a population-based survey of subjects aged > or = 65 years...
  5. ncbi request reprint Neuropathology of familial tauopathy
    Yoshio Tsuboi
    Fifth Department of Internal Medicine, Fukuoka University, 7 45 1 Nanakuma, Johnan ku, Fukuoka 814 0180, Japan
    Neuropathology 26:471-4. 2006
    ..Correlations between genetic mutations and the heterogeneity of clinical and neuropathologic features remain unclear...
  6. ncbi request reprint Diffusion-weighted MRI in familial Creutzfeldt-Jakob disease with the codon 200 mutation in the prion protein gene
    Yoshio Tsuboi
    Fifth Department of Internal Medicine, Fukuoka University School of Medicine, 7 45 1 Nanakuma, Fukuoka 814 0180, Japan
    J Neurol Sci 232:45-9. 2005
    ..DWI abnormalities may be characteristic features that should be considered in the diagnosis of familial as well as of sporadic CJD...
  7. ncbi request reprint Neurodegeneration involving putative respiratory neurons in Perry syndrome
    Yoshio Tsuboi
    Department of Neurology, Fukuoka University, Fukuoka, Japan
    Acta Neuropathol 115:263-8. 2008
    ....
  8. doi request reprint Lack of association between BST1 polymorphisms and sporadic Parkinson's disease in a Japanese population
    Yoshihiro Miyake
    Department of Preventive Medicine and Public Health, Faculty of Medicine, Fukuoka University, Japan
    J Neurol Sci 323:162-6. 2012
    ..We do not find evidence for interactions between smoking or caffeine intake and SNP rs11724635 affecting sporadic PD...
  9. doi request reprint SNCA polymorphisms, smoking, and sporadic Parkinson's disease in Japanese
    Yoshihiro Miyake
    Department of Preventive Medicine and Public Health, Faculty of Medicine, Fukuoka University, Fukuoka 814 0180, Japan
    Parkinsonism Relat Disord 18:557-61. 2012
    ..We also present new evidence for biological interactions between SNPs rs356219 and rs356220 and smoking that affect sporadic PD...
  10. pmc Genetic polymorphisms involved in dopaminergic neurotransmission and risk for Parkinson's disease in a Japanese population
    Chikako Kiyohara
    Department of Preventive Medicine, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan
    BMC Neurol 11:89. 2011
    ..Parkinson's disease (PD) is characterized by alterations in dopaminergic neurotransmission. Genetic polymorphisms involved in dopaminergic neurotransmission may influence susceptibility to PD...
  11. doi request reprint Case-control study of risk of Parkinson's disease in relation to hypertension, hypercholesterolemia, and diabetes in Japan
    Yoshihiro Miyake
    Department of Public Health, Faculty of Medicine, Fukuoka University, Jonan ku, Fukuoka, Japan
    J Neurol Sci 293:82-6. 2010
    ..Further well-designed investigations of the association of vascular risk factors with the risk of PD are needed, particularly large-scale prospective studies in Asia...
  12. doi request reprint Dietary intake of metals and risk of Parkinson's disease: a case-control study in Japan
    Yoshihiro Miyake
    Department of Public Health, Faculty of Medicine, Fukuoka University, Fukuoka, Japan
    J Neurol Sci 306:98-102. 2011
    ..50 (95% CI: 0.26-0.95, P for trend=0.055) for zinc. There were no relationships between the intake of copper or manganese and the risk of PD. Higher intake of iron, magnesium, and zinc may be protective against PD...
  13. pmc UCHL1 S18Y variant is a risk factor for Parkinson's disease in Japan
    Yoshihiro Miyake
    Department of Preventive Medicine and Public Health, Faculty of Medicine, Fukuoka University, Fukuoka, Japan
    BMC Neurol 12:62. 2012
    ..We examined the relationship between UCHL1 S18Y single nucleotide polymorphism (SNP) and sporadic PD in Japan...
  14. doi request reprint APOE and CYP2E1 polymorphisms, alcohol consumption, and Parkinson's disease in a Japanese population
    Chikako Kiyohara
    Department of Preventive Medicine, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan
    J Neural Transm 118:1335-44. 2011
    ....
  15. doi request reprint Intake of Japanese and Chinese teas reduces risk of Parkinson's disease
    Keiko Tanaka
    Department of Public Health, Faculty of Medicine, Fukuoka University, Fukuoka 814 0180, Japan
    Parkinsonism Relat Disord 17:446-50. 2011
    ..We confirmed that the intake of coffee and caffeine reduced the risk of PD. Furthermore, this is the first study to show a significant inverse relationship between the intake of Japanese and Chinese teas and the risk of PD...
  16. pmc Occupational risk factors for Parkinson's disease: a case-control study in Japan
    Keiko Tanaka
    Department of Preventive Medicine and Public Health, Fukuoka University, Fukuoka, Japan
    BMC Neurol 11:83. 2011
    ..The evidence for associations between occupational factors and the risk of Parkinson's disease (PD) is inconsistent. We assessed the risk of PD associated with various occupational factors in Japan...
  17. doi request reprint LRRK2 Gly2385Arg polymorphism, cigarette smoking, and risk of sporadic Parkinson's disease: a case-control study in Japan
    Yoshihiro Miyake
    Department of Public Health, Faculty of Medicine, Fukuoka University, Fukuoka, Japan
    J Neurol Sci 297:15-8. 2010
    ..In addition, we provide new evidence for the biological interaction between the polymorphism and smoking with regard to the risk of sporadic PD...
  18. ncbi request reprint MDR1 C3435T polymorphism and interaction with environmental factors in risk of Parkinson's disease: a case-control study in Japan
    Chikako Kiyohara
    Department of Preventive Medicine, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan
    Drug Metab Pharmacokinet 28:138-43. 2013
    ..Our results suggest that the C3435T polymorphism may not play an important role in PD susceptibility in Japanese. Evidence of an interaction between the C3435T polymorphism and alcohol consumption was suggested...
  19. ncbi request reprint [Primary central nervous system lymphoma: a case report and evaluation of the diagnostic value of IL-10 level in the cerebrospinal fluid]
    Takayasu Mishima
    Department of Neurology, Fukuoka University Faculty of Medicine, Johnan ku, Fukuoka, Japan
    Brain Nerve 64:1347-51. 2012
    ..Visual impairment has been suggested as a feature of PCNSL, and an elevated IL-10 level in the CSF may be a useful marker for diagnosing PCNSL...
  20. ncbi request reprint [A case of anti-aquaporin 4 antibody-positive Sjögren syndrome associated with a relapsed myelitis in pregnancy]
    Jun Tsugawa
    Department of Neurology, Fukuoka University
    Rinsho Shinkeigaku 50:27-30. 2010
    ..Intravenous steroid administration seems safe and effective against relapse of NMO during pregnancy...
  21. ncbi request reprint [Garcin syndrome in a patient with rhinocerebral mucormycosis]
    Kazuo Mutsukura
    5th Department of Internal Medicine, Fukuoka University School of Medicine, 7 45 1 Nanakuma, Johnan ku, Fukuoka 814 0180, Japan
    No To Shinkei 56:231-5. 2004
    ..It is suggested that mucormycosis should be considered in case of Garcin syndrome without osteolysis in the skull base...
  22. ncbi request reprint [Primary clivus diffuse large B cell lymphoma presenting with posterior neck pain and bilateral abducens nerve palsy]
    Akira Yokote
    Department of Neurology, Fukuoka University
    Rinsho Shinkeigaku 52:245-50. 2012
    ..It is suggested that the clivus tumor affected the petroclival segment of abducent nerve in our case...
  23. doi request reprint Aseptic meningitis as initial presentation of acute disseminated encephalomyelitis
    Fujio Fujiki
    Department of Neurology, Hara Sanshin Hospital, Fukuoka, Japan
    J Neurol Sci 272:129-31. 2008
    ..However, it is less well known that aseptic meningitis may be an initial manifestation of ADEM...
  24. ncbi request reprint Acute motor sensory axonal neuropathy associated with Henoch-Schönlein purpura
    Kazuo Mutsukura
    Fifth Department of Internal Medicine, Fukuoka University School of Medicine, Fukuoka, Japan
    J Neurol Sci 263:169-73. 2007
    ..The present case is the first report in Japan of HSP associated clinically and electrophysiologically with confirmed acute motor sensory axonal neuropathy. Common pathogenesis might have a role for development for two distinct disorders...
  25. ncbi request reprint Neuropathology of Parkinson's disease dementia and dementia with Lewy bodies with reference to striatal pathology
    Yoshio Tsuboi
    Fifth Department of Internal Medicine, Fukuoka University, Fukuoka, Japan
    Parkinsonism Relat Disord 13:S221-4. 2007
    ..There are few pathologic differences between PDD and DLB, despite differences in their clinical course...
  26. ncbi request reprint [A case of intravascular malignant lymphomatosis presenting with epicornus syndrome and diagnosed by bone marrow biopsy]
    Jun Tsugawa
    Department of Pathology, Faculty of Medicine, Fukuoka University, 7 45 1 Nanakuma, Johnan ku, Fukuoka 814 0180, Japan
    Brain Nerve 62:269-72. 2010
    ..There have been a few reports of IVL presenting with lower lumbar spinal cord and conus medullaris. It should be noted that IVL can cause unidentified progressive ascending myelopathy without positive MRI findings...
  27. ncbi request reprint [Clinical, genetic and pathological aspects of frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17)]
    Yoshio Tsuboi
    Fifth Department of Internal Medicine, Fukuoka University
    Rinsho Shinkeigaku 44:875-8. 2004
    ..Mutations in exons 1, 10 and intron following exon 10 are associated with neuronal and glial tau deposition. Mutations in exons 9, 11, 12 and 13 lead to deposits of tau filaments predominantly in neurons...
  28. ncbi request reprint Contrasting genotypes of the tau gene in two phenotypically distinct patients with P301L mutation of frontotemporal dementia and parkinsonism linked to chromosome 17
    Tomonori Kobayashi
    Department of Neurology, Juntendo University School of Medicine, 2 1 1 Hongo, Bunkyo ku, Tokyo 113 8421, Japan
    J Neurol 249:669-75. 2002
    ..Accumulation of information as to phenotype-genotype association will settle this hypothesis...
  29. ncbi request reprint Role of video-assisted thoracic surgery for the treatment of myasthenia gravis: extended thymectomy by median sternotomy versus the thoracoscopic approach with sternal lifting
    Masafumi Hiratsuka
    Second Department of Surgery, Fukuoka University School of Medicine, Japan
    Int Surg 91:44-51. 2006
    ..VATS thymectomy should be considered a valid alternative to the established approaches aimed at achieving a "curative thymectomy" in patients with MG...
  30. ncbi request reprint [Reversible posterior leukoencephalopathy syndrome (RPLS) associated with Wegener's granulomatosis: a case report and review of the literature]
    Rieko Onozawa
    Department of Neurology, Fukuoka University School of Medicine
    Rinsho Shinkeigaku 52:567-70. 2012
    ..It is possible that RPLS in our patient might be a manifestation related to Wegener's granulomatosis-mediated vascular endothelial injury...
  31. ncbi request reprint [Diazepam-responsive malignant catatonia in a patient with an initial clinical diagnosis of neuroleptic malignant syndrome: a case report]
    Takayasu Mishima
    Department of Neurology, Fukuoka University, Johnan ku, Fukuoka, Japan
    Brain Nerve 63:503-7. 2011
    ..Indeed, some authors have described NMS as a variant of malignant catatonia. If treatment is refractory in cases of NMS, malignant catatonia may be suspected, and changing treatment to diazepam administration may be useful...
  32. ncbi request reprint [Recurrent syncope due to sick sinus syndrome in a patient with myasthenia gravis associated with thymoma]
    Jun Tsugawa
    Department of Neurology, Fukuoka University School of Medicine
    Rinsho Shinkeigaku 51:32-4. 2011
    ..To prevent fatal complication of arrhythmia, appropriate examination and therapy against cardiomyopathy associated with myasthenia gravis should be considered...
  33. ncbi request reprint [A small cortical infarction showing dysarthria and left hypoglossal paresis]
    Jun Tsugawa
    Department of Neurology, Fukuoka University Faculty of Medicine, Japan
    Brain Nerve 59:1373-6. 2007
    ..This case indicate that cortical infarction in the primary motor cortex may produce isolated hypoglossal nerve paresis and dysarthria due to disruption of the corticolingual tract...
  34. ncbi request reprint [Thyrotoxic encephalopathy showing reversible diffusion-weighted imaging abnormalities]
    Fujio Fujiki
    Fifth Department of Internal Medicine, School of Medicine, Fukuoka University, 7 45 1 Nanakuma, Jonan ku, Fukuoka 814 0180, Japan
    No To Shinkei 56:1017-23. 2004
    ..This case was thought to be a thyrotoxic encephalopathy with beneficial response to corticosteroid therapy. Abnormalities seen in DWI and EEG were normalized ten days later...
  35. doi request reprint Dietary fat intake and risk of Parkinson's disease: a case-control study in Japan
    Yoshihiro Miyake
    Department of Public Health, Faculty of Medicine, Fukuoka University, 7 45 1 Nanakuma, Jonan ku, Fukuoka 814 0180, Japan
    J Neurol Sci 288:117-22. 2010
    ..Higher consumption of arachidonic acid and cholesterol may be related to an increased risk of PD...
  36. doi request reprint Refractory acute disseminated encephalomyelitis with anti-galactocerebroside antibody
    Makoto Samukawa
    Department of Neurology, Sakai Hospital, Kinki University Faculty of Medicine, Osaka, Japan
    Neurosci Res 74:284-9. 2012
    ....
  37. ncbi request reprint Increased tau burden in the cortices of progressive supranuclear palsy presenting with corticobasal syndrome
    Yoshio Tsuboi
    Department of Neurology, Fukoka University, Fukoka, Japan
    Mov Disord 20:982-8. 2005
    ....
  38. ncbi request reprint Dementia with Lewy bodies and Parkinson's disease with dementia: are they different?
    Yoshio Tsuboi
    Fifth Department of Internal Medicine, Fukuoka University, Japan
    Parkinsonism Relat Disord 11:S47-51. 2005
    ..Further clinicopathologic studies are needed to define other pathologic differences between DLB and PDD and to explore the role of neuritic, basal forebrain and striatal pathology in these clinical syndromes...
  39. ncbi request reprint [A case of pseudo Tolosa-Hunt syndrome with bacterial infection and literature review]
    Nobuhiro Saitoh
    Fifth Department of Internal Medicine, Fukuoka University, 7 45 1 Nanakuma, Johnan ku, Fukuoka 814 0180, Japan
    No To Shinkei 57:1079-82. 2005
    ..It is speculated that bacterial infection might cause clinical features mimicking Tolosa-Hunt syndrome in our case...
  40. ncbi request reprint Cardiac papillary fibroelastoma as a cause of recurrent ischemic strokes: the diagnostic value of serial transesophageal echocardiography
    Yasuhiko Baba
    Department of 5th Internal Medicine, Fukuoka University, Fukuoka, Japan
    Cerebrovasc Dis 14:256-9. 2002
  41. ncbi request reprint POPC/apoA-I discs as a potent lipoprotein modulator in Tangier disease
    Yoshinari Uehara
    Department of Neurology and Healthcare, Fukuoka University Hospital, 7 45 1 Nanakuma, Jonan ku, 814 0180 Fukuoka, Japan
    Atherosclerosis 197:283-9. 2008
    ..In conclusion, POPC/apoA-I discs not only have beneficial effects on cholesterol efflux, but also have potential as a lipoprotein modulator in patients with TD...
  42. ncbi request reprint [Cheiromegaly and podomegaly associated with primary progressive multiple sclerosis: a case report]
    Kazuo Mutsukura
    5th Department of Internal Medicine, Fukuoka University School of Medicine, 7 45 1 Nanakuma, Johnan ku, Fukuoka 814 0180, Japan
    No To Shinkei 55:1047-51. 2003
    ..It is suggested that cheiromegaly/podomegaly in present case may be caused by chronic cervical cord injury affecting descending central sympathetic tract associated with primary progressive multiple sclerosis...
  43. pmc Changes in phospholipid composition of erythrocyte membrane in Alzheimer's disease
    Shinji Oma
    Department of Neurology, Fukuoka University School of Medicine, Fukuoka, Japan
    Dement Geriatr Cogn Dis Extra 2:298-303. 2012
    ..The present study aimed to examine the composition of erythrocyte phospholipids including pl-PE in patients with AD...
  44. doi request reprint Impaired food transportation in Parkinson's disease related to lingual bradykinesia
    George Umemoto
    Department of Oral and Maxillofacial Surgery, Faculty of Medicine, Fukuoka University, 7 45 1 Nanakuma, Jonan ku, Fukuoka 814 0180, Japan
    Dysphagia 26:250-5. 2011
    ..527). Prolonged mealtimes and the ejection of insufficiently masticated food from the oral cavity into oropharynx were associated with PD progression. These results indicate the importance of the oral phase of swallowing in PD patients...
  45. ncbi request reprint [Clinical, pathological, and genetic characteristics of frontotemporal dementia and parkinsonism linked to chromosome 17 with mutations in the MAPT and PGRN]
    Yoshio Tsuboi
    Department of Neurology, Fukuoka University, 7 45 1 Nanakuma, Johnan ku, Fukuoka, 814 0180, Japan
    Brain Nerve 61:1285-91. 2009
    ....
  46. doi request reprint Autonomic failures in Perry syndrome with DCTN1 mutation
    Sachiko Ohshima
    Department of Neurology, Kokura Memorial Hospital, Fukuoka, Japan
    Parkinsonism Relat Disord 16:612-4. 2010
    ..Because of central hypoventilation, all affected members need ventilation assistance, which is thought beneficial for prolongation of survival time as well as improving quality of life in this syndrome...
  47. ncbi request reprint [Hypersomnia as a presentation of paraneoplastic limbic encephalitis in a patient with adult T cell leukemia/lymphoma]
    Hiroo Katsuya
    Department of Oncology, Fukuoka University School of Medicine, Fukuoka
    Nihon Naika Gakkai Zasshi 97:410-2. 2008
  48. ncbi request reprint Physiologic assessment of autonomic dysfunction in pallidopontonigral degeneration with N279K mutation in the tau gene on chromosome 17
    William P Cheshire
    Department of Neurology, Mayo Clinic, 4500 San Pablo Rd, Jacksonville, FL 32224, USA
    Auton Neurosci 102:71-7. 2002
    ..The degree of autonomic dysfunction correlated significantly with disease duration and with indices of disease severity. In conclusion, there is evidence in PPND of a disturbance in the central autonomic network...
  49. ncbi request reprint Apolipoprotein E epsilon 4 is a determinant for Alzheimer-type pathologic features in tauopathies, synucleinopathies, and frontotemporal degeneration
    Keith A Josephs
    Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA
    Arch Neurol 61:1579-84. 2004
    ....
  50. ncbi request reprint Effect of MAPT and APOE on prognosis of progressive supranuclear palsy
    Yasuhiko Baba
    Department of Neurology, Mayo Clinic, Jacksonville, FL 32224, USA
    Neurosci Lett 405:116-9. 2006
    ..These results support the assertion that the H1/H1 genotype may contribute to the earlier occurrence of clinical symptoms...
  51. ncbi request reprint The effect of tau genotype on clinical features in FTDP-17
    Yasuhiko Baba
    Department of Neurology, Mayo Clinic, 4500 San Pablo Road, Jacksonville, FL 32224, USA
    Parkinsonism Relat Disord 11:205-8. 2005
    ..7; 95% confidence interval, 1.4-98.7; P=0.008). Our results suggest that tau genotype does not influence the disease course. However, it may predispose to a specific clinical sign in the early stage of FTDP-17...
  52. ncbi request reprint Haplotype-phenotype correlations in kindreds with the N279K mutation in the tau gene
    Bryan K Woodruff
    Arch Neurol 61:1327; author reply 1327. 2004
  53. pmc Co-localization of tau and alpha-synuclein in the olfactory bulb in Alzheimer's disease with amygdala Lewy bodies
    Hiroshige Fujishiro
    Department of Neuroscience, Mayo Clinic College of Medicine, 4500 San Pablo Road, Jacksonville, FL, 32224, USA
    Acta Neuropathol 116:17-24. 2008
    ..The present study shows that in AD/ALB, the olfactory bulb is nearly equally vulnerable to tau and alpha-synuclein pathology as the amygdala and suggests that neurodegeneration in these two anatomical regions is linked...
  54. ncbi request reprint Clinical features and disease haplotypes of individuals with the N279K tau gene mutation: a comparison of the pallidopontonigral degeneration kindred and a French family
    Yoshio Tsuboi
    Department of Neurology, Mayo Clinic, 4500 San Pablo Rd, Jacksonville, FL 32224, USA
    Arch Neurol 59:943-50. 2002
    ..An N279K missense mutation in exon 10 of the tau gene reported in an American family with pallidopontonigral degeneration (PPND family) was recently found in members of a French kindred with dementia and supranuclear palsy...
  55. ncbi request reprint Clinical-pathologic study of biomarkers in FTDP-17 (PPND family with N279K tau mutation)
    Zoe Arvanitakis
    Department of Neurology, Mayo Clinic, Jacksonville, FL, USA
    Parkinsonism Relat Disord 13:230-9. 2007
    ..Autopsy of six affected subjects showed frontotemporal degeneration with extensive tauopathy. Further studies of FTDP-17 patients are needed to replicate these findings...
  56. ncbi request reprint Hereditary tauopathies and parkinsonism
    Zbigniew K Wszolek
    Department of Neurology, Mayo Clinic, Jacksonville, Florida, USA
    Adv Neurol 91:153-63. 2003
  57. ncbi request reprint Clinical-electrophysiological correlation of tremor and myoclonus in a kindred with the N279K tau mutation
    John N Caviness
    Department of Neurology, Parkinson s Disease and Movement Disorders Center, Mayo Clinic Scottsdale, 13400 East Shea Boulevard, Scottsdale, AZ 85259, USA
    Parkinsonism Relat Disord 9:151-7. 2003
    ..Electrophysiology yielded remarkable findings in those asymptomatic at-risk individuals that carried the N279K tau mutation...
  58. ncbi request reprint APOE E4 is a determinant for Alzheimer type pathology in progressive supranuclear palsy
    Yoshio Tsuboi
    Department of Neurology, Mayo Clinic, Jacksonville, FL, USA
    Neurology 60:240-5. 2003
    ..To assess demographic and genetic determinants of Alzheimer type pathology in progressive supranuclear palsy (PSP)...
  59. ncbi request reprint Two large Polish kindreds with levodopa-responsive Parkinsonism not linked to known Parkinsonian genes and loci
    Anna Krygowska-Wajs
    Department of Neurology, Collegium Medicum, Jagiellonian University, Cracow, Poland
    Parkinsonism Relat Disord 9:193-200. 2003
    ..We describe two newly discovered large Polish families with Parkinsonism, PL-Krakow 1 and PL-Krakow 2...
  60. ncbi request reprint [Japanese contribution to the understanding of frontotemporal dementia and parkinsonism linked to chromosome 17(FTDP-17)]
    Yoshio Tsuboi
    Mayo Clinic Jacksonville, Department of Neurology, 4500 San Pablo Road, Jacksonville, Florida 32224, USA
    No To Shinkei 55:107-19. 2003
    ..It is hoped that future studies of these families will also lead to finding the curative treatments for the tauopathies...
  61. ncbi request reprint CHIP and Hsp70 regulate tau ubiquitination, degradation and aggregation
    Leonard Petrucelli
    Mayo Clinic, Jacksonville, FL 32224, USA
    Hum Mol Genet 13:703-14. 2004
    ..Hsp70/CHIP may therefore play an important role in the pathogenesis of tauopathies and also represents a potential therapeutic target...
  62. ncbi request reprint Profile of families with parkinsonism-predominant spinocerebellar ataxia type 2 (SCA2)
    Sarah Furtado
    Department of Clinical Neurosciences, University of Calgary, Calgary, Alberta, Canada
    Mov Disord 19:622-9. 2004
    ..This review emphasizes the importance of testing for SCA2 in patients with parkinsonism and a family history of neurodegenerative disorders. Testing for SCA2 is also important in studies of inherited parkinsonism...
  63. ncbi request reprint Identifying genetic factors in Parkinson disease
    Matt Farrer
    JAMA 287:715-6. 2002