Middle Cerebellar Peduncle Width—A Novel MRI Biomarker for FXTAS?
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a severe neurodegenerative movement disorder affecting over 40% of male and 16% of female FMR1 premutation carriers over the age of 50. However, there is a lack of prognostic biomarkers to aid early diagnosis and treatment planning. Therefore, t...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2018-06-01
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| Series: | Frontiers in Neuroscience |
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| Online Access: | https://www.frontiersin.org/article/10.3389/fnins.2018.00379/full |
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| author | Annie L. Shelton Annie L. Shelton Annie L. Shelton Jun Y. Wang Jun Y. Wang Jun Y. Wang Emily Fourie Emily Fourie Emily Fourie Flora Tassone Flora Tassone Anna Chen Lauren Frizzi Randi J. Hagerman Randi J. Hagerman Emilio Ferrer David Hessl David Hessl Susan M. Rivera Susan M. Rivera Susan M. Rivera |
| author_facet | Annie L. Shelton Annie L. Shelton Annie L. Shelton Jun Y. Wang Jun Y. Wang Jun Y. Wang Emily Fourie Emily Fourie Emily Fourie Flora Tassone Flora Tassone Anna Chen Lauren Frizzi Randi J. Hagerman Randi J. Hagerman Emilio Ferrer David Hessl David Hessl Susan M. Rivera Susan M. Rivera Susan M. Rivera |
| author_sort | Annie L. Shelton |
| collection | DOAJ |
| description | Fragile X-associated tremor/ataxia syndrome (FXTAS) is a severe neurodegenerative movement disorder affecting over 40% of male and 16% of female FMR1 premutation carriers over the age of 50. However, there is a lack of prognostic biomarkers to aid early diagnosis and treatment planning. Therefore, this study aimed to assess the utility of the Magnetic Resonance Parkinson Index (MRPI) as a potential MRI biomarker for FXTAS. The four measurements required for the MRPI were assessed in 45 male premutation carriers at risk of developing FXTAS (Mean age = 59.54 years), 53 male patients with FXTAS (Mean age = 66.16 years) and 61 male controls (Mean age = 60.75 years), of which 73 participants had follow-up visits on average 1.96 years later. Middle cerebellar peduncle (MCP) width as well as midbrain and pons cross-sectional area were reduced in patients with FXTAS compared to both premutation carriers without FXTAS and controls. While these measurements were not found to change over time in the three-group analysis, age was an important predictor of midbrain cross-sectional area and pons/midbrain ratio. MCP width was initially reduced in a subset of premutation carriers who developed FXTAS symptoms between their initial and follow-up visits, which also decreased between visits, compared to age-matched premutation carriers who did not show any FXTAS symptom development over time. Therefore, while the MPRI may not be a useful biomarker for FXTAS, decreased MCP width may be one of the first notable signs of FXTAS, and therefore the first biomarker with the potential to identify those most at risk for the disorder. |
| first_indexed | 2024-04-13T05:20:09Z |
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| institution | Directory Open Access Journal |
| issn | 1662-453X |
| language | English |
| last_indexed | 2024-04-13T05:20:09Z |
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| spelling | doaj.art-5455fbee13b043a6bff332592288fa932022-12-22T03:00:46ZengFrontiers Media S.A.Frontiers in Neuroscience1662-453X2018-06-011210.3389/fnins.2018.00379353441Middle Cerebellar Peduncle Width—A Novel MRI Biomarker for FXTAS?Annie L. Shelton0Annie L. Shelton1Annie L. Shelton2Jun Y. Wang3Jun Y. Wang4Jun Y. Wang5Emily Fourie6Emily Fourie7Emily Fourie8Flora Tassone9Flora Tassone10Anna Chen11Lauren Frizzi12Randi J. Hagerman13Randi J. Hagerman14Emilio Ferrer15David Hessl16David Hessl17Susan M. Rivera18Susan M. Rivera19Susan M. Rivera20MIND Institute, University of California Davis Medical Center, Sacramento, CA, United StatesCenter for Mind and Brain, University of California, Davis, Davis, CA, United StatesDepartment of Psychology, University of California, Davis, Davis, CA, United StatesMIND Institute, University of California Davis Medical Center, Sacramento, CA, United StatesCenter for Mind and Brain, University of California, Davis, Davis, CA, United StatesDepartment of Biochemistry and Molecular Medicine, University of California, Davis, Sacramento, CA, United StatesMIND Institute, University of California Davis Medical Center, Sacramento, CA, United StatesCenter for Mind and Brain, University of California, Davis, Davis, CA, United StatesDepartment of Psychology, University of California, Davis, Davis, CA, United StatesMIND Institute, University of California Davis Medical Center, Sacramento, CA, United StatesDepartment of Biochemistry and Molecular Medicine, University of California, Davis, Sacramento, CA, United StatesDepartment of Psychology, University of California, Davis, Davis, CA, United StatesDepartment of Psychology, University of California, Davis, Davis, CA, United StatesMIND Institute, University of California Davis Medical Center, Sacramento, CA, United StatesDepartment of Pediatrics, University of California Davis Medical Center, Sacramento, CA, United StatesDepartment of Psychology, University of California, Davis, Davis, CA, United StatesMIND Institute, University of California Davis Medical Center, Sacramento, CA, United StatesDepartment of Psychiatry and Behavioral Sciences, University of California Davis Medical Center, Sacramento, CA, United StatesMIND Institute, University of California Davis Medical Center, Sacramento, CA, United StatesCenter for Mind and Brain, University of California, Davis, Davis, CA, United StatesDepartment of Psychology, University of California, Davis, Davis, CA, United StatesFragile X-associated tremor/ataxia syndrome (FXTAS) is a severe neurodegenerative movement disorder affecting over 40% of male and 16% of female FMR1 premutation carriers over the age of 50. However, there is a lack of prognostic biomarkers to aid early diagnosis and treatment planning. Therefore, this study aimed to assess the utility of the Magnetic Resonance Parkinson Index (MRPI) as a potential MRI biomarker for FXTAS. The four measurements required for the MRPI were assessed in 45 male premutation carriers at risk of developing FXTAS (Mean age = 59.54 years), 53 male patients with FXTAS (Mean age = 66.16 years) and 61 male controls (Mean age = 60.75 years), of which 73 participants had follow-up visits on average 1.96 years later. Middle cerebellar peduncle (MCP) width as well as midbrain and pons cross-sectional area were reduced in patients with FXTAS compared to both premutation carriers without FXTAS and controls. While these measurements were not found to change over time in the three-group analysis, age was an important predictor of midbrain cross-sectional area and pons/midbrain ratio. MCP width was initially reduced in a subset of premutation carriers who developed FXTAS symptoms between their initial and follow-up visits, which also decreased between visits, compared to age-matched premutation carriers who did not show any FXTAS symptom development over time. Therefore, while the MPRI may not be a useful biomarker for FXTAS, decreased MCP width may be one of the first notable signs of FXTAS, and therefore the first biomarker with the potential to identify those most at risk for the disorder.https://www.frontiersin.org/article/10.3389/fnins.2018.00379/fullfragile XFXTASbiomarkersMRImiddle cerebellar peduncle |
| spellingShingle | Annie L. Shelton Annie L. Shelton Annie L. Shelton Jun Y. Wang Jun Y. Wang Jun Y. Wang Emily Fourie Emily Fourie Emily Fourie Flora Tassone Flora Tassone Anna Chen Lauren Frizzi Randi J. Hagerman Randi J. Hagerman Emilio Ferrer David Hessl David Hessl Susan M. Rivera Susan M. Rivera Susan M. Rivera Middle Cerebellar Peduncle Width—A Novel MRI Biomarker for FXTAS? Frontiers in Neuroscience fragile X FXTAS biomarkers MRI middle cerebellar peduncle |
| title | Middle Cerebellar Peduncle Width—A Novel MRI Biomarker for FXTAS? |
| title_full | Middle Cerebellar Peduncle Width—A Novel MRI Biomarker for FXTAS? |
| title_fullStr | Middle Cerebellar Peduncle Width—A Novel MRI Biomarker for FXTAS? |
| title_full_unstemmed | Middle Cerebellar Peduncle Width—A Novel MRI Biomarker for FXTAS? |
| title_short | Middle Cerebellar Peduncle Width—A Novel MRI Biomarker for FXTAS? |
| title_sort | middle cerebellar peduncle width a novel mri biomarker for fxtas |
| topic | fragile X FXTAS biomarkers MRI middle cerebellar peduncle |
| url | https://www.frontiersin.org/article/10.3389/fnins.2018.00379/full |
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