Abstract
Background: Huntington disease (HD) is an inherited neurodegenerative disorder most commonly manifesting in adulthood. Identification of biomarkers tracking neurodegeneration before the onset of motor symptoms is important for future interventional studies. Our study aimed to contribute in the phenotypic characterization of the premanifest HD phase. Methods: 28 premanifest subjects (preHD), 25 age-matched controls, and 12 manifest HD patients were enrolled for the study. The participants underwent a multimodal protocol including cognitive evaluations, arithmetic ability test, posturography, composite cerebellar functional test (CCFS), and brain 3T-MRI. PreHD were divided at the group median for predicted years to expected onset into “far-from-onset” (>15 years, PreHD-far), and “close-to-onset” (≤15 years, preHD-close). Basal ganglia volumes and cortical thickness were computed using FreeSurfer. Results: PreHD-close showed significantly lower scores than controls in Symbol Digit Modalities Test (p = 0.017), Arithmetic subtraction task (p = 0.04), and MMSE (p < 0.006). At posturography, preHD-close showed increased sway velocity (<0.04) and distance (p < 0.02) compared to controls. PreHD-close had reduced striatum and globus pallidus volumes and left occipital cortical thinning compared to controls. Compared to PreHD far-from-onset, PreHD-close showed bilateral cortical thinning in occipital and parahippocampal regions, inversely correlating with burden score and prognostic index for HD. CCFS only differed between controls and manifest HD. PreHD far-from-onset did not show significant differences in comparison with controls. Conclusions: We confirmed that quantitative brain MRI represents a valid biomarker of neurodegeneration in preHD. Posturography and Arithmentic tests seem promising tools for detecting early changes in premanifest HD, but need to be further confirmed in large cohorts.
| Original language | English |
|---|---|
| Pages (from-to) | 17-23 |
| Number of pages | 7 |
| Journal | Parkinsonism and Related Disorders |
| Volume | 51 |
| DOIs | |
| Publication status | Published - Jun 1 2018 |
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Keywords
- Arithmetic task
- Burden score
- Cortical thickness
- Posturography
- Premanifest mutation carrier
- Striatal volume
ASJC Scopus subject areas
- Neurology
- Geriatrics and Gerontology
- Clinical Neurology
Cite this
Cortical thickness, stance control, and arithmetic skill : An exploratory study in premanifest Huntington disease. / Nanetti, Lorenzo; Contarino, Valeria Elisa; Castaldo, Anna; Sarro, Lidia; Bachoud-Levi, Anne Catherine; Giavazzi, Maria; Frittoli, Serena; Ciammola, Andrea; Rizzo, Elena; Gellera, Cinzia; Bruzzone, Maria Grazia; Taroni, Franco; Grisoli, Marina; Mariotti, Caterina.
In: Parkinsonism and Related Disorders, Vol. 51, 01.06.2018, p. 17-23.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Cortical thickness, stance control, and arithmetic skill
T2 - An exploratory study in premanifest Huntington disease
AU - Nanetti, Lorenzo
AU - Contarino, Valeria Elisa
AU - Castaldo, Anna
AU - Sarro, Lidia
AU - Bachoud-Levi, Anne Catherine
AU - Giavazzi, Maria
AU - Frittoli, Serena
AU - Ciammola, Andrea
AU - Rizzo, Elena
AU - Gellera, Cinzia
AU - Bruzzone, Maria Grazia
AU - Taroni, Franco
AU - Grisoli, Marina
AU - Mariotti, Caterina
PY - 2018/6/1
Y1 - 2018/6/1
N2 - Background: Huntington disease (HD) is an inherited neurodegenerative disorder most commonly manifesting in adulthood. Identification of biomarkers tracking neurodegeneration before the onset of motor symptoms is important for future interventional studies. Our study aimed to contribute in the phenotypic characterization of the premanifest HD phase. Methods: 28 premanifest subjects (preHD), 25 age-matched controls, and 12 manifest HD patients were enrolled for the study. The participants underwent a multimodal protocol including cognitive evaluations, arithmetic ability test, posturography, composite cerebellar functional test (CCFS), and brain 3T-MRI. PreHD were divided at the group median for predicted years to expected onset into “far-from-onset” (>15 years, PreHD-far), and “close-to-onset” (≤15 years, preHD-close). Basal ganglia volumes and cortical thickness were computed using FreeSurfer. Results: PreHD-close showed significantly lower scores than controls in Symbol Digit Modalities Test (p = 0.017), Arithmetic subtraction task (p = 0.04), and MMSE (p < 0.006). At posturography, preHD-close showed increased sway velocity (<0.04) and distance (p < 0.02) compared to controls. PreHD-close had reduced striatum and globus pallidus volumes and left occipital cortical thinning compared to controls. Compared to PreHD far-from-onset, PreHD-close showed bilateral cortical thinning in occipital and parahippocampal regions, inversely correlating with burden score and prognostic index for HD. CCFS only differed between controls and manifest HD. PreHD far-from-onset did not show significant differences in comparison with controls. Conclusions: We confirmed that quantitative brain MRI represents a valid biomarker of neurodegeneration in preHD. Posturography and Arithmentic tests seem promising tools for detecting early changes in premanifest HD, but need to be further confirmed in large cohorts.
AB - Background: Huntington disease (HD) is an inherited neurodegenerative disorder most commonly manifesting in adulthood. Identification of biomarkers tracking neurodegeneration before the onset of motor symptoms is important for future interventional studies. Our study aimed to contribute in the phenotypic characterization of the premanifest HD phase. Methods: 28 premanifest subjects (preHD), 25 age-matched controls, and 12 manifest HD patients were enrolled for the study. The participants underwent a multimodal protocol including cognitive evaluations, arithmetic ability test, posturography, composite cerebellar functional test (CCFS), and brain 3T-MRI. PreHD were divided at the group median for predicted years to expected onset into “far-from-onset” (>15 years, PreHD-far), and “close-to-onset” (≤15 years, preHD-close). Basal ganglia volumes and cortical thickness were computed using FreeSurfer. Results: PreHD-close showed significantly lower scores than controls in Symbol Digit Modalities Test (p = 0.017), Arithmetic subtraction task (p = 0.04), and MMSE (p < 0.006). At posturography, preHD-close showed increased sway velocity (<0.04) and distance (p < 0.02) compared to controls. PreHD-close had reduced striatum and globus pallidus volumes and left occipital cortical thinning compared to controls. Compared to PreHD far-from-onset, PreHD-close showed bilateral cortical thinning in occipital and parahippocampal regions, inversely correlating with burden score and prognostic index for HD. CCFS only differed between controls and manifest HD. PreHD far-from-onset did not show significant differences in comparison with controls. Conclusions: We confirmed that quantitative brain MRI represents a valid biomarker of neurodegeneration in preHD. Posturography and Arithmentic tests seem promising tools for detecting early changes in premanifest HD, but need to be further confirmed in large cohorts.
KW - Arithmetic task
KW - Burden score
KW - Cortical thickness
KW - Posturography
KW - Premanifest mutation carrier
KW - Striatal volume
UR - http://www.scopus.com/inward/record.url?scp=85042431244&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85042431244&partnerID=8YFLogxK
U2 - 10.1016/j.parkreldis.2018.02.033
DO - 10.1016/j.parkreldis.2018.02.033
M3 - Article
AN - SCOPUS:85042431244
VL - 51
SP - 17
EP - 23
JO - Parkinsonism and Related Disorders
JF - Parkinsonism and Related Disorders
SN - 1353-8020
ER -