Transmissible spongiform encephalopathies with P102L mutation of PRNP manifesting different phenotypes: Clinical, neuroimaging, and electrophysiological studies in Chinese kindred in Taiwan

Nai Fang Chi, Yi Chung Lee, Yi Chun Lu, Hsiu Mei Wu, Bing Wen Soong

研究成果: 雜誌貢獻文章

13 引文 (Scopus)

摘要

A P102L point mutation in the prion protein gene (PRNP) usually causes Gerstmann-Sträussler-Scheinker disease (GSS), which is a rare hereditary transmissible spongiform encephalopathy (TSE). The clinical features include ataxia in 50s age group with subsequent dementia, spastic paraparesis and extrapyramidal signs. Many families have been reported from the Caucasian population, but only one from the Chinese. We hereby report a large Chinese family with P102L mutation of PRNP whose clinical manifestations at onset were intriguingly heterogeneous, either rapidly progressive dementia with scanty other neurological features or slowly progressive ataxia followed by cognitive impairment. The four-generation pedigree included eight patients with a mean age at onset of 36.9 ± 12.9 (mean ± SD) years. Mean disease duration to death in the four patients was 5.5 ± 1.7 (mean ± SD) years. Molecular analysis revealed a P102L mutation and M129 polymorphism in the PRNP gene in all affected individuals. TSE with P102L mutation of PRNP appears to have a remarkably variable phenotypic expressivity that may change with time and does not appear related to the codon 129 polymorphism.

原文英語
頁(從 - 到)191-197
頁數7
期刊Journal of Neurology
257
發行號2
DOIs
出版狀態已發佈 - 二月 2010

指紋

Prion Diseases
Taiwan
Neuroimaging
Phenotype
Mutation
Genes
Ataxia
Dementia
Spastic Paraparesis
Pedigree
Age of Onset
Point Mutation
Codon
Age Groups
Prion Proteins
Population

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

引用此文

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abstract = "A P102L point mutation in the prion protein gene (PRNP) usually causes Gerstmann-Str{\"a}ussler-Scheinker disease (GSS), which is a rare hereditary transmissible spongiform encephalopathy (TSE). The clinical features include ataxia in 50s age group with subsequent dementia, spastic paraparesis and extrapyramidal signs. Many families have been reported from the Caucasian population, but only one from the Chinese. We hereby report a large Chinese family with P102L mutation of PRNP whose clinical manifestations at onset were intriguingly heterogeneous, either rapidly progressive dementia with scanty other neurological features or slowly progressive ataxia followed by cognitive impairment. The four-generation pedigree included eight patients with a mean age at onset of 36.9 ± 12.9 (mean ± SD) years. Mean disease duration to death in the four patients was 5.5 ± 1.7 (mean ± SD) years. Molecular analysis revealed a P102L mutation and M129 polymorphism in the PRNP gene in all affected individuals. TSE with P102L mutation of PRNP appears to have a remarkably variable phenotypic expressivity that may change with time and does not appear related to the codon 129 polymorphism.",
keywords = "Chinese, P102L mutation, Transmissible spongiform encephalopathies",
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T2 - Clinical, neuroimaging, and electrophysiological studies in Chinese kindred in Taiwan

AU - Chi, Nai Fang

AU - Lee, Yi Chung

AU - Lu, Yi Chun

AU - Wu, Hsiu Mei

AU - Soong, Bing Wen

PY - 2010/2

Y1 - 2010/2

N2 - A P102L point mutation in the prion protein gene (PRNP) usually causes Gerstmann-Sträussler-Scheinker disease (GSS), which is a rare hereditary transmissible spongiform encephalopathy (TSE). The clinical features include ataxia in 50s age group with subsequent dementia, spastic paraparesis and extrapyramidal signs. Many families have been reported from the Caucasian population, but only one from the Chinese. We hereby report a large Chinese family with P102L mutation of PRNP whose clinical manifestations at onset were intriguingly heterogeneous, either rapidly progressive dementia with scanty other neurological features or slowly progressive ataxia followed by cognitive impairment. The four-generation pedigree included eight patients with a mean age at onset of 36.9 ± 12.9 (mean ± SD) years. Mean disease duration to death in the four patients was 5.5 ± 1.7 (mean ± SD) years. Molecular analysis revealed a P102L mutation and M129 polymorphism in the PRNP gene in all affected individuals. TSE with P102L mutation of PRNP appears to have a remarkably variable phenotypic expressivity that may change with time and does not appear related to the codon 129 polymorphism.

AB - A P102L point mutation in the prion protein gene (PRNP) usually causes Gerstmann-Sträussler-Scheinker disease (GSS), which is a rare hereditary transmissible spongiform encephalopathy (TSE). The clinical features include ataxia in 50s age group with subsequent dementia, spastic paraparesis and extrapyramidal signs. Many families have been reported from the Caucasian population, but only one from the Chinese. We hereby report a large Chinese family with P102L mutation of PRNP whose clinical manifestations at onset were intriguingly heterogeneous, either rapidly progressive dementia with scanty other neurological features or slowly progressive ataxia followed by cognitive impairment. The four-generation pedigree included eight patients with a mean age at onset of 36.9 ± 12.9 (mean ± SD) years. Mean disease duration to death in the four patients was 5.5 ± 1.7 (mean ± SD) years. Molecular analysis revealed a P102L mutation and M129 polymorphism in the PRNP gene in all affected individuals. TSE with P102L mutation of PRNP appears to have a remarkably variable phenotypic expressivity that may change with time and does not appear related to the codon 129 polymorphism.

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