Neuropathological, clinical and molecular pathology in female fragile X premutation carriers with and without FXTAS
Fragile X‐associated tremor/ataxia syndrome (FXTAS) is an adult‐onset neurodegenerative disorder associated with premutation alleles of the fragile X mental retardation 1 (FMR1) gene. Approximately 40% of older male premutation carriers, and a smaller proportion of females, are affected by FXTAS; du...
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| Published in | Genes, brain and behavior Vol. 11; no. 5; pp. 577 - 585 |
|---|---|
| Main Authors | , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
Oxford, UK
Blackwell Publishing Ltd
01.07.2012
John Wiley & Sons, Inc |
| Subjects | |
| Online Access | Get full text |
| ISSN | 1601-1848 1601-183X 1601-183X |
| DOI | 10.1111/j.1601-183X.2012.00779.x |
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| Abstract | Fragile X‐associated tremor/ataxia syndrome (FXTAS) is an adult‐onset neurodegenerative disorder associated with premutation alleles of the fragile X mental retardation 1 (FMR1) gene. Approximately 40% of older male premutation carriers, and a smaller proportion of females, are affected by FXTAS; due to the lower penetrance the characterization of the disorder in females is much less detailed. Core clinical features of FXTAS include intention tremor, cerebellar gait ataxia and frequently parkinsonism, autonomic dysfunction and cognitive deficits progressing to dementia in up to 50% of males.
In this study, we report the clinical, molecular and neuropathological findings of eight female premutation carriers. Significantly, four of these women had dementia; of the four, three had FXTAS plus dementia. Post‐mortem examination showed the presence of intranuclear inclusions in all eight cases, which included one asymptomatic premutation carrier who died from cancer. Among the four subjects with dementia, three had sufficient number of cortical amyloid plaques and neurofibrillary tangles to make Alzheimer's disease a highly likely cause of dementia and a fourth case had dementia with cortical Lewy bodies. Dementia appears to be more common than originally reported in females with FXTAS. Although further studies are required, our observation suggests that in a portion of FXTAS cases there is Alzheimer pathology and perhaps a synergistic effect on the progression of the disease may occur. |
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| AbstractList | Fragile X-associated tremor/ataxia syndrome (FXTAS) is an adult-onset neurodegenerative disorder associated with premutation alleles of the fragile X mental retardation 1 (FMR1) gene. Approximately 40% of older male premutation carriers, and a smaller proportion of females, are affected by FXTAS; due to the lower penetrance the characterization of the disorder in females is much less detailed. Core clinical features of FXTAS include intention tremor, cerebellar gait ataxia and frequently parkinsonism, autonomic dysfunction and cognitive deficits progressing to dementia in up to 50% of males. In this study, we report the clinical, molecular and neuropathological findings of eight female premutation carriers. Significantly, four of these women had dementia; of the four, three had FXTAS plus dementia. Post-mortem examination showed the presence of intranuclear inclusions in all eight cases, which included one asymptomatic premutation carrier who died from cancer. Among the four subjects with dementia, three had sufficient number of cortical amyloid plaques and neurofibrillary tangles to make Alzheimer's disease a highly likely cause of dementia and a fourth case had dementia with cortical Lewy bodies. Dementia appears to be more common than originally reported in females with FXTAS. Although further studies are required, our observation suggests that in a portion of FXTAS cases there is Alzheimer pathology and perhaps a synergistic effect on the progression of the disease may occur.Fragile X-associated tremor/ataxia syndrome (FXTAS) is an adult-onset neurodegenerative disorder associated with premutation alleles of the fragile X mental retardation 1 (FMR1) gene. Approximately 40% of older male premutation carriers, and a smaller proportion of females, are affected by FXTAS; due to the lower penetrance the characterization of the disorder in females is much less detailed. Core clinical features of FXTAS include intention tremor, cerebellar gait ataxia and frequently parkinsonism, autonomic dysfunction and cognitive deficits progressing to dementia in up to 50% of males. In this study, we report the clinical, molecular and neuropathological findings of eight female premutation carriers. Significantly, four of these women had dementia; of the four, three had FXTAS plus dementia. Post-mortem examination showed the presence of intranuclear inclusions in all eight cases, which included one asymptomatic premutation carrier who died from cancer. Among the four subjects with dementia, three had sufficient number of cortical amyloid plaques and neurofibrillary tangles to make Alzheimer's disease a highly likely cause of dementia and a fourth case had dementia with cortical Lewy bodies. Dementia appears to be more common than originally reported in females with FXTAS. Although further studies are required, our observation suggests that in a portion of FXTAS cases there is Alzheimer pathology and perhaps a synergistic effect on the progression of the disease may occur. Fragile X‐associated tremor/ataxia syndrome (FXTAS) is an adult‐onset neurodegenerative disorder associated with premutation alleles of the fragile X mental retardation 1 (FMR1) gene. Approximately 40% of older male premutation carriers, and a smaller proportion of females, are affected by FXTAS; due to the lower penetrance the characterization of the disorder in females is much less detailed. Core clinical features of FXTAS include intention tremor, cerebellar gait ataxia and frequently parkinsonism, autonomic dysfunction and cognitive deficits progressing to dementia in up to 50% of males. In this study, we report the clinical, molecular and neuropathological findings of eight female premutation carriers. Significantly, four of these women had dementia; of the four, three had FXTAS plus dementia. Post‐mortem examination showed the presence of intranuclear inclusions in all eight cases, which included one asymptomatic premutation carrier who died from cancer. Among the four subjects with dementia, three had sufficient number of cortical amyloid plaques and neurofibrillary tangles to make Alzheimer's disease a highly likely cause of dementia and a fourth case had dementia with cortical Lewy bodies. Dementia appears to be more common than originally reported in females with FXTAS. Although further studies are required, our observation suggests that in a portion of FXTAS cases there is Alzheimer pathology and perhaps a synergistic effect on the progression of the disease may occur. Fragile X-associated tremor/ataxia syndrome (FXTAS) is an adult-onset neurodegenerative disorder associated with premutation alleles of the fragile X mental retardation 1 (FMR1) gene. Approximately 40% of older male premutation carriers, and a smaller proportion of females, are affected by FXTAS; due to the lower penetrance the characterization of the disorder in females is much less detailed. Core clinical features of FXTAS include intention tremor, cerebellar gait ataxia and frequently parkinsonism, autonomic dysfunction and cognitive deficits progressing to dementia in up to 50% of males. In this study, we report the clinical, molecular and neuropathological findings of eight female premutation carriers. Significantly, four of these women had dementia; of the four, three had FXTAS plus dementia. Post-mortem examination showed the presence of intranuclear inclusions in all eight cases, which included one asymptomatic premutation carrier who died from cancer. Among the four subjects with dementia, three had sufficient number of cortical amyloid plaques and neurofibrillary tangles to make Alzheimer's disease a highly likely cause of dementia and a fourth case had dementia with cortical Lewy bodies. Dementia appears to be more common than originally reported in females with FXTAS. Although further studies are required, our observation suggests that in a portion of FXTAS cases there is Alzheimer pathology and perhaps a synergistic effect on the progression of the disease may occur. Fragile X-associated tremor/ataxia syndrome (FXTAS) is an adult-onset neurodegenerative disorder associated with premutation alleles of the fragile X mental retardation 1 (FMR1) gene. Approximately 40% of older male premutation carriers, and a smaller proportion of females, are affected by FXTAS; due to the lower penetrance the characterization of the disorder in females is much less detailed. Core clinical features of FXTAS include intention tremor, cerebellar gait ataxia and frequently parkinsonism, autonomic dysfunction and cognitive deficits progressing to dementia in up to 50% of males. In this study, we report the clinical, molecular and neuropathological findings of eight female premutation carriers. Significantly, four of these women had dementia; of the four, three had FXTAS plus dementia. Post-mortem examination showed the presence of intranuclear inclusions in all eight cases, which included one asymptomatic premutation carrier who died from cancer. Among the four subjects with dementia, three had sufficient number of cortical amyloid plaques and neurofibrillary tangles to make Alzheimer's disease a highly likely cause of dementia and a fourth case had dementia with cortical Lewy bodies. Dementia appears to be more common than originally reported in females with FXTAS. Although further studies are required, our observation suggests that in a portion of FXTAS cases there is Alzheimer pathology and perhaps a synergistic effect on the progression of the disease may occur. [PUBLICATION ABSTRACT] Fragile X‐associated tremor/ataxia syndrome (FXTAS) is an adult‐onset neurodegenerative disorder associated with premutation alleles of the fragile X mental retardation 1 ( FMR1 ) gene. Approximately 40% of older male premutation carriers, and a smaller proportion of females, are affected by FXTAS; due to the lower penetrance the characterization of the disorder in females is much less detailed. Core clinical features of FXTAS include intention tremor, cerebellar gait ataxia and frequently parkinsonism, autonomic dysfunction and cognitive deficits progressing to dementia in up to 50% of males. In this study, we report the clinical, molecular and neuropathological findings of eight female premutation carriers. Significantly, four of these women had dementia; of the four, three had FXTAS plus dementia. Post‐mortem examination showed the presence of intranuclear inclusions in all eight cases, which included one asymptomatic premutation carrier who died from cancer. Among the four subjects with dementia, three had sufficient number of cortical amyloid plaques and neurofibrillary tangles to make Alzheimer's disease a highly likely cause of dementia and a fourth case had dementia with cortical Lewy bodies. Dementia appears to be more common than originally reported in females with FXTAS. Although further studies are required, our observation suggests that in a portion of FXTAS cases there is Alzheimer pathology and perhaps a synergistic effect on the progression of the disease may occur. Fragile X-associated tremor/ataxia syndrome (FXTAS) is an adult-onset neurodegenerative disorder associated with premutation alleles of the fragile X mental retardation 1 ( FMR1 ) gene. Approximately 40% of older male premutation carriers, and a smaller proportion of females, are affected by FXTAS; due to the lower penetrance the characterization of the disorder in females is much less detailed. Core clinical features of FXTAS include intention tremor, cerebellar gait ataxia, and frequently parkinsonism, autonomic dysfunction, and cognitive deficits progressing to dementia in up to 50% of males. Here, we report the clinical, molecular, and neuropathological findings of eight female premutation carriers. Significantly, four of these women had dementia; of the four, three had FXTAS plus dementia. Post mortem examination revealed the presence of intranuclear inclusions in all eight cases, which included one asymptomatic premutation carrier who died from cancer. Among the four subjects with dementia, three had sufficient number of cortical amyloid plaques and neurofibrillary tangles to make Alzheimer’s disease a highly likely cause of dementia and a fourth case had dementia with cortical Lewy bodies. Dementia appears to be more common than originally reported in females with FXTAS. Although further studies are required, our observation suggests that in a portion of FXTAS cases and Alzheimer pathologies a synergistic effect on the progression of the disease may occurs. |
| Author | Hagerman, P. J. Gane, L. W. Hunsaker, M. R. Jacquemont, S. Tassone, F. Jin, L.‐W. Seritan, A. L. Hagerman, R. J. Berman, R. F. Greco, C. M. Basuta, K. |
| AuthorAffiliation | 1 Department of Biochemistry and Molecular Medicine, University of California, Davis, School of Medicine, Davis, CA 3 Department of Pathology and Laboratory Medicine, University of California, Davis, Medical Center, Sacramento, CA 7 Department of Pediatrics, University of California Davis Medical Center, Sacramento, CA 4 Department of Neurological Surgery, University of California, Davis, School of Medicine, Davis, CA 6 Service de Génétique, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland 2 MIND Institute, University of California, Davis, Medical Center, Sacramento, CA 5 Department of Psychiatry and Behavioral Sciences, University of California, Davis Medical Center |
| AuthorAffiliation_xml | – name: 4 Department of Neurological Surgery, University of California, Davis, School of Medicine, Davis, CA – name: 1 Department of Biochemistry and Molecular Medicine, University of California, Davis, School of Medicine, Davis, CA – name: 3 Department of Pathology and Laboratory Medicine, University of California, Davis, Medical Center, Sacramento, CA – name: 7 Department of Pediatrics, University of California Davis Medical Center, Sacramento, CA – name: 2 MIND Institute, University of California, Davis, Medical Center, Sacramento, CA – name: 6 Service de Génétique, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland – name: 5 Department of Psychiatry and Behavioral Sciences, University of California, Davis Medical Center |
| Author_xml | – sequence: 1 givenname: F. surname: Tassone fullname: Tassone, F. – sequence: 2 givenname: C. M. surname: Greco fullname: Greco, C. M. – sequence: 3 givenname: M. R. surname: Hunsaker fullname: Hunsaker, M. R. – sequence: 4 givenname: A. L. surname: Seritan fullname: Seritan, A. L. – sequence: 5 givenname: R. F. surname: Berman fullname: Berman, R. F. – sequence: 6 givenname: L. W. surname: Gane fullname: Gane, L. W. – sequence: 7 givenname: S. surname: Jacquemont fullname: Jacquemont, S. – sequence: 8 givenname: K. surname: Basuta fullname: Basuta, K. – sequence: 9 givenname: L.‐W. surname: Jin fullname: Jin, L.‐W. – sequence: 10 givenname: P. J. surname: Hagerman fullname: Hagerman, P. J. – sequence: 11 givenname: R. J. surname: Hagerman fullname: Hagerman, R. J. |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/22463693$$D View this record in MEDLINE/PubMed |
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| Copyright | 2012 The Authors. Genes, Brain and Behavior © 2012 Blackwell Publishing Ltd and International Behavioural and Neural Genetics Society 2012 The Authors. Genes, Brain and Behavior © 2012 Blackwell Publishing Ltd and International Behavioural and Neural Genetics Society. |
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| PublicationDate | July 2012 |
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| Snippet | Fragile X‐associated tremor/ataxia syndrome (FXTAS) is an adult‐onset neurodegenerative disorder associated with premutation alleles of the fragile X mental... Fragile X-associated tremor/ataxia syndrome (FXTAS) is an adult-onset neurodegenerative disorder associated with premutation alleles of the fragile X mental... |
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| SubjectTerms | Activation ratio Aged Aged, 80 and over Alleles Alzheimer disease Alzheimer's disease Amyloid Ataxia Ataxia - genetics Ataxia - pathology Autonomic nervous system Basal ganglia Brain - pathology Cancer Central nervous system diseases Cerebellum Cognitive ability Dementia - genetics Dementia - pathology Dementia disorders Female Females FMR1 premutation fragile X mental retardation protein Fragile X Mental Retardation Protein - genetics Fragile X syndrome Fragile X Syndrome - genetics Fragile X Syndrome - pathology FXTAS gait Humans Inclusion bodies Intranuclear Inclusion Bodies - genetics Intranuclear Inclusion Bodies - pathology Lewy bodies Mental retardation Middle Aged Motivation Movement disorders Neurodegenerative diseases Neurofibrillary tangles Neurons - pathology Pathology Plaques RNA toxicity Syndrome tremor Tremor - genetics Tremor - pathology |
| Title | Neuropathological, clinical and molecular pathology in female fragile X premutation carriers with and without FXTAS |
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