The Experts below are selected from a list of 291 Experts worldwide ranked by ideXlab platform

Shu-ichi Ikeda - One of the best experts on this subject based on the ideXlab platform.

  • amyloidogenic transthyretin val30met Homozygote showing unusually early onset familial amyloid polyneuropathy
    Muscle & Nerve, 2008
    Co-Authors: Kana Tojo, Ayako Tsuchiya, Kazuko Machida, Masahide Yazaki, Yoshiki Sekijima, Shu-ichi Ikeda
    Abstract:

    We report an amyloidogenic transthyretin (ATTR) Val30Met Homozygote showing extremely early-onset, severe familial amyloid polyneuropathy (FAP). Although Homozygotes have been reported to show late-onset and mild clinical manifestations, detailed analyses of the present and previously reported families suggest that Homozygotes have a slightly more severe clinical course than heterozygotes. This is the youngest reported patient with ATTR Val30Met FAP, a condition believed to be attributable to homozygosity of this mutation. The clinical severity is consistent with TTR protein instability. Muscle Nerve, 2008

  • Amyloidogenic transthyretin Val30Met Homozygote showing unusually early-onset familial amyloid polyneuropathy.
    Muscle & nerve, 2008
    Co-Authors: Kana Tojo, Ayako Tsuchiya, Kazuko Machida, Masahide Yazaki, Yoshiki Sekijima, Shu-ichi Ikeda
    Abstract:

    We report an amyloidogenic transthyretin (ATTR) Val30Met Homozygote showing extremely early-onset, severe familial amyloid polyneuropathy (FAP). Although Homozygotes have been reported to show late-onset and mild clinical manifestations, detailed analyses of the present and previously reported families suggest that Homozygotes have a slightly more severe clinical course than heterozygotes. This is the youngest reported patient with ATTR Val30Met FAP, a condition believed to be attributable to homozygosity of this mutation. The clinical severity is consistent with TTR protein instability.

Kana Tojo - One of the best experts on this subject based on the ideXlab platform.

  • amyloidogenic transthyretin val30met Homozygote showing unusually early onset familial amyloid polyneuropathy
    Muscle & Nerve, 2008
    Co-Authors: Kana Tojo, Ayako Tsuchiya, Kazuko Machida, Masahide Yazaki, Yoshiki Sekijima, Shu-ichi Ikeda
    Abstract:

    We report an amyloidogenic transthyretin (ATTR) Val30Met Homozygote showing extremely early-onset, severe familial amyloid polyneuropathy (FAP). Although Homozygotes have been reported to show late-onset and mild clinical manifestations, detailed analyses of the present and previously reported families suggest that Homozygotes have a slightly more severe clinical course than heterozygotes. This is the youngest reported patient with ATTR Val30Met FAP, a condition believed to be attributable to homozygosity of this mutation. The clinical severity is consistent with TTR protein instability. Muscle Nerve, 2008

  • Amyloidogenic transthyretin Val30Met Homozygote showing unusually early-onset familial amyloid polyneuropathy.
    Muscle & nerve, 2008
    Co-Authors: Kana Tojo, Ayako Tsuchiya, Kazuko Machida, Masahide Yazaki, Yoshiki Sekijima, Shu-ichi Ikeda
    Abstract:

    We report an amyloidogenic transthyretin (ATTR) Val30Met Homozygote showing extremely early-onset, severe familial amyloid polyneuropathy (FAP). Although Homozygotes have been reported to show late-onset and mild clinical manifestations, detailed analyses of the present and previously reported families suggest that Homozygotes have a slightly more severe clinical course than heterozygotes. This is the youngest reported patient with ATTR Val30Met FAP, a condition believed to be attributable to homozygosity of this mutation. The clinical severity is consistent with TTR protein instability.

James W. Ironside - One of the best experts on this subject based on the ideXlab platform.

  • clinicopathological phenotype of codon 129 valine Homozygote sporadic creutzfeldt jakob disease
    Neuropathology and Applied Neurobiology, 2000
    Co-Authors: Gabor G. Kovacs, Mark Head, Tristan J. R. Bunn, Lajos László, Robert G. Will, James W. Ironside
    Abstract:

    The naturally occurring polymorphism at codon 129 of the human prion protein gene (PRNP) influences susceptibility to sporadic Creutzfeldt-Jakob Disease (CJD); the majority of the patients are methionine Homozygotes at this locus, while valine Homozygotes represent only 10% of cases. The aim was to study the clinical and neuropathological phenotype of sporadic CJD in valine Homozygotes, to estimate the reliability of current clinical diagnostic criteria, and to identify any consistent and distinct features. Twelve cases of sporadic CJD with a codon 129 valine Homozygote genotype were identified at the National CJD Surveillance Unit in Edinburgh. In addition to a retrospective clinical analysis, tissue blocks were stained by conventional techniques and by immunocytochemistry for prion protein. Frozen brain tissue was available from five cases for Western blot analysis of PrP RES . which in all cases showed a type 2 mobility. The cases included four males and eight females, average age 63.6 years, with a mean duration of illness of 6 months. Eleven patients presented with ataxia, and none had the characteristic EEG changes found in sporadic CJD. The neuropathological phenotype comprised spongiform change and prion protein immunopositivity most marked in the subcortical grey matter and cerebellum, prion protein positive plaque-like deposits in all regions. laminar deposition of prion protein in the cerebral cortex, and hippocampal involvement (which is seldom reported in sporadic CJD). In conclusion, these cases exhibited a fairly uniform phenotype, which is relatively distinct from sporadic CJD in methionine Homozygotes, and thus diagnosis may be difficult using existing clinical criteria.

  • Clinicopathological phenotype of codon 129 valine Homozygote sporadic Creutzfeldt–Jakob disease
    Neuropathology and applied neurobiology, 2000
    Co-Authors: Gabor G. Kovacs, Mark Head, Tristan J. R. Bunn, Lajos László, Robert G. Will, James W. Ironside
    Abstract:

    The naturally occurring polymorphism at codon 129 of the human prion protein gene (PRNP) influences susceptibility to sporadic Creutzfeldt-Jakob Disease (CJD); the majority of the patients are methionine Homozygotes at this locus, while valine Homozygotes represent only 10% of cases. The aim was to study the clinical and neuropathological phenotype of sporadic CJD in valine Homozygotes, to estimate the reliability of current clinical diagnostic criteria, and to identify any consistent and distinct features. Twelve cases of sporadic CJD with a codon 129 valine Homozygote genotype were identified at the National CJD Surveillance Unit in Edinburgh. In addition to a retrospective clinical analysis, tissue blocks were stained by conventional techniques and by immunocytochemistry for prion protein. Frozen brain tissue was available from five cases for Western blot analysis of PrP RES . which in all cases showed a type 2 mobility. The cases included four males and eight females, average age 63.6 years, with a mean duration of illness of 6 months. Eleven patients presented with ataxia, and none had the characteristic EEG changes found in sporadic CJD. The neuropathological phenotype comprised spongiform change and prion protein immunopositivity most marked in the subcortical grey matter and cerebellum, prion protein positive plaque-like deposits in all regions. laminar deposition of prion protein in the cerebral cortex, and hippocampal involvement (which is seldom reported in sporadic CJD). In conclusion, these cases exhibited a fairly uniform phenotype, which is relatively distinct from sporadic CJD in methionine Homozygotes, and thus diagnosis may be difficult using existing clinical criteria.

Dong-jip Kim - One of the best experts on this subject based on the ideXlab platform.

  • systemic lupus erythematosus with nephritis is strongly associated with the tnfb 2 Homozygote in the korean population
    Human Immunology, 1996
    Co-Authors: Tai-gyu Kim, Ho-youn Kim, Sang-heon Lee, Chul-soo Cho, Sung-hwan Park, Hee-baeg Choi, Hoon Han, Dong-jip Kim
    Abstract:

    To evaluate the association of TNFB NcoI polymorphism with SLE in the Korean population, we investigated the frequencies of the TNFB and HLADRB1 alleles in 281 controls and 97 SLE patients, including 56 patients with nephritis and 41 patients without nephritis. The frequency of the TNFB*2 Homozygote in SLE was significantly increased over controls (43.3% vs 28.5%, RR = 1.9,p < 0.01). In SLE with nephritis, the TNFB*2 Homozygote was more significantly increased (57.1% vs 28.5%, RR = 3.4,p < 0.0001), whereas there was no significant difference between SLE without nephritis and controls. The study of HLA-DRB 1 alleles revealed the increased frequencies of DRB1*02 and *03 (30.9% vs 18.2%, RR = 2.0,p < 0.01; 8.2% vs 2.1%, RR = 4.1,p < 0.05). There was no significantly different distribution of HLA-DRB1 alleles between SLE patients with nephritis and without nephritis. We found positive LD between TNFB*1 and HLA-DR1B1*13, and between TNFB*2 and the particular DRB1 allele: *15, *04, and *07 in controls and/or in SLE patients. After stratification for each HLADRB1 allele, SLE with nephritis showed a higher frequency of TNFB*2 Homozygote compared with the corresponding controls in DRB1*15, *08, and *09 positives. Our results suggest that the TNFB*2 Homozygote may be a strong susceptibility gene of SLE with nephritis in the Korean population.

  • Systemic lupus erythematosus with nephritis is strongly associated with the TNFB*2 Homozygote in the Korean population.
    Human immunology, 1996
    Co-Authors: Tai-gyu Kim, Ho-youn Kim, Sang-heon Lee, Chul-soo Cho, Sung-hwan Park, Hee-baeg Choi, Hoon Han, Dong-jip Kim
    Abstract:

    To evaluate the association of TNFB NcoI polymorphism with SLE in the Korean population, we investigated the frequencies of the TNFB and HLADRB1 alleles in 281 controls and 97 SLE patients, including 56 patients with nephritis and 41 patients without nephritis. The frequency of the TNFB*2 Homozygote in SLE was significantly increased over controls (43.3% vs 28.5%, RR = 1.9,p < 0.01). In SLE with nephritis, the TNFB*2 Homozygote was more significantly increased (57.1% vs 28.5%, RR = 3.4,p < 0.0001), whereas there was no significant difference between SLE without nephritis and controls. The study of HLA-DRB 1 alleles revealed the increased frequencies of DRB1*02 and *03 (30.9% vs 18.2%, RR = 2.0,p < 0.01; 8.2% vs 2.1%, RR = 4.1,p < 0.05). There was no significantly different distribution of HLA-DRB1 alleles between SLE patients with nephritis and without nephritis. We found positive LD between TNFB*1 and HLA-DR1B1*13, and between TNFB*2 and the particular DRB1 allele: *15, *04, and *07 in controls and/or in SLE patients. After stratification for each HLADRB1 allele, SLE with nephritis showed a higher frequency of TNFB*2 Homozygote compared with the corresponding controls in DRB1*15, *08, and *09 positives. Our results suggest that the TNFB*2 Homozygote may be a strong susceptibility gene of SLE with nephritis in the Korean population.

Masahide Yazaki - One of the best experts on this subject based on the ideXlab platform.

  • amyloidogenic transthyretin val30met Homozygote showing unusually early onset familial amyloid polyneuropathy
    Muscle & Nerve, 2008
    Co-Authors: Kana Tojo, Ayako Tsuchiya, Kazuko Machida, Masahide Yazaki, Yoshiki Sekijima, Shu-ichi Ikeda
    Abstract:

    We report an amyloidogenic transthyretin (ATTR) Val30Met Homozygote showing extremely early-onset, severe familial amyloid polyneuropathy (FAP). Although Homozygotes have been reported to show late-onset and mild clinical manifestations, detailed analyses of the present and previously reported families suggest that Homozygotes have a slightly more severe clinical course than heterozygotes. This is the youngest reported patient with ATTR Val30Met FAP, a condition believed to be attributable to homozygosity of this mutation. The clinical severity is consistent with TTR protein instability. Muscle Nerve, 2008

  • Amyloidogenic transthyretin Val30Met Homozygote showing unusually early-onset familial amyloid polyneuropathy.
    Muscle & nerve, 2008
    Co-Authors: Kana Tojo, Ayako Tsuchiya, Kazuko Machida, Masahide Yazaki, Yoshiki Sekijima, Shu-ichi Ikeda
    Abstract:

    We report an amyloidogenic transthyretin (ATTR) Val30Met Homozygote showing extremely early-onset, severe familial amyloid polyneuropathy (FAP). Although Homozygotes have been reported to show late-onset and mild clinical manifestations, detailed analyses of the present and previously reported families suggest that Homozygotes have a slightly more severe clinical course than heterozygotes. This is the youngest reported patient with ATTR Val30Met FAP, a condition believed to be attributable to homozygosity of this mutation. The clinical severity is consistent with TTR protein instability.