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pubs-backup.bib
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@article{slapik_visuospatial_2019,
title = {Visuospatial organization and recall in cerebellar ataxia},
volume = {18},
issn = {1473-4230},
url = {https://doi.org/10.1007/s12311-018-0948-z},
doi = {10.1007/s12311-018-0948-z},
abstract = {Poor visuospatial skills can disrupt activities of daily living. The cerebellum has been implicated in visuospatial processing, and patients with cerebellar injury often exhibit poor visuospatial skills, as measured by impaired memory for the figure within the Rey-Osterrieth complex figure task ({ROCF}). Visuospatial skills are an inherent aspect of the {ROCF}; however, figure organization (i.e., the order in which the figure is reconstructed by the participant) can influence recall ability. The objective of this study was to examine and compare visuospatial and organization skills in people with cerebellar ataxia. We administered the {ROCF} to patients diagnosed with cerebellar ataxia and healthy controls. The cerebellar ataxia group included patients that carried a diagnosis of spinocerebellar ataxia (any subtype), autosomal dominant cerebellar ataxia, or cerebellar ataxia with unknown etiology. Primary outcome measures were organization and recall performance on the {ROCF}, with supplemental information derived from cognitive tests of visuospatial perception, working memory, processing speed, and motor function. Cerebellar ataxia patients revealed impaired figure organization relative to that of controls. Figure copy was impaired in the patients, but their subsequent recall performance was normal, suggesting compensation from initial organization and copying strategies. In controls, figure organization predicted recall performance, but this relationship was not observed in the patients. Instead, processing speed predicted patients’ recall accuracy. Supplemental tasks indicated that visual perception was intact in the cerebellar ataxia group and that performance deficits were more closely tied to organization strategies than with visuospatial skills.},
pages = {33--46},
number = {1},
journaltitle = {The Cerebellum},
shortjournal = {Cerebellum},
author = {Slapik, Mitchell B. and Kronemer, Sharif I. and Morgan, Owen P. and Bloes, Ryan and Lieberman, Seth and Mandel, Jordan and Rosenthal, Liana and Marvel, Cherie},
urldate = {2019-03-11},
date = {2019},
langid = {english},
keywords = {Cerebellum, Ataxia, Cognition, Memory, Organization, Visuospatial},
file = {Slapik et al., 2019. Visuospatial Organization and Recall in Cerebellar Ataxia.pdf:/home/om/gdrive/Zotero_files/S/Slapik et al., 2019. Visuospatial Organization and Recall in Cerebellar Ataxia.pdf:application/pdf},
}
@article{marvel_how_2019,
title = {How the motor system integrates with working memory},
volume = {102},
issn = {0149-7634},
url = {http://www.sciencedirect.com/science/article/pii/S0149763418306468},
doi = {10.1016/j.neubiorev.2019.04.017},
abstract = {Working memory is vital for basic functions in everyday life. During working memory, one holds a finite amount of information in mind until it is no longer required or when resources to maintain this information are depleted. Convergence of neuroimaging data indicates that working memory is supported by the motor system, and in particular, by regions that are involved in motor planning and preparation, in the absence of overt movement. These “secondary motor” regions are physically located between primary motor and non-motor regions, within the frontal lobe, cerebellum, and basal ganglia, creating a functionally organized gradient. The contribution of secondary motor regions to working memory may be to generate internal motor traces that reinforce the representation of information held in mind. The primary aim of this review is to elucidate motor-cognitive interactions through the lens of working memory using the Sternberg paradigm as a model and to suggest origins of the motor-cognitive interface. In addition, we discuss the implications of the motor-cognitive relationship for clinical groups with motor network deficits.},
pages = {184--194},
journaltitle = {Neuroscience \& Biobehavioral Reviews},
shortjournal = {Neuroscience \& Biobehavioral Reviews},
author = {Marvel, Cherie L. and Morgan, Owen P. and Kronemer, Sharif I.},
urldate = {2019-05-16},
date = {2019},
keywords = {Cerebellum, Cognition, Basal ganglia, {FMRI}, Motor, Motor trace, Movement disorders, Premotor cortex, Sternberg, Supplementary motor area, Working memory},
file = {MarvelC_ea - How the motor system integrates with working - 2019.pdf:/home/om/gdrive/Zotero_files/M/MarvelC_ea - How the motor system integrates with working - 22.pdf:application/pdf;ScienceDirect Snapshot:/home/om/.Zotero/storage/J42WFBT2/S0149763418306468.html:text/html;ScienceDirect Snapshot:/home/om/.Zotero/storage/TET4G9P4/S0149763418306468.html:text/html},
}
@article{morgan_cerebellum_2021,
title = {The cerebellum and implicit sequencing: Evidence from cerebellar ataxia},
volume = {20},
issn = {1473-4230},
url = {https://doi.org/10.1007/s12311-020-01206-7},
doi = {10.1007/s12311-020-01206-7},
abstract = {The cerebellum recognizes sequences from prior experiences and uses this information to generate internal models that predict future outcomes in a feedforward manner [Front Hum Neurosci 8: 475, 2014; Cortex 47: 137–44, 2011; Cerebellum 7: 611–5, 2008; J Neurosci 26: 9107–16, 2006]. This process has been well documented in the motor domain, but the cerebellum’s role in cognitive sequencing, within the context of implicit versus explicit processes, is not well characterized. In this study, we tested individuals with cerebellar ataxia and healthy controls to clarify the role of the cerebellum sequencing using variations on implicit versus explicit and motor versus cognitive demands across five experiments. Converging results across these studies suggest that cerebellar feedforward mechanisms may be necessary for sequencing in the implicit domain only. In the ataxia group, rhythmic tapping, rate of motor learning, and implicit sequence learning were impaired. However, for cognitive sequencing that could be accomplished using explicit strategies, the cerebellar group performed normally, as though they shifted to extra-cerebellar mechanisms to compensate. For example, when cognitive and motor functions relied on cerebellar function simultaneously, the ataxia group’s motor function was unaffected, in contrast to that of controls whose motor performance declined as a function of cognitive load. These findings indicated that the cerebellum is not critical for all forms of sequencing per se. Instead, it plays a fundamental role for sequencing within the implicit domain, whether functions are motor or cognitive. Moreover, individuals with cerebellar ataxia are generally able to compensate for cognitive sequencing when explicit strategies are available in order to preserve resources for motor function.},
pages = {222--245},
number = {2},
journaltitle = {The Cerebellum},
shortjournal = {The Cerebellum},
author = {Morgan, Owen P. and Slapik, Mitchell B. and Iannuzzelli, Katherine G. and {LaConte}, Stephen M. and Lisinski, Jonathan M. and Nopoulos, Peg C. and Cochran, Ashley M. and Kronemer, Sharif I. and Rosenthal, Liana S. and Marvel, Cherie L.},
date = {2021},
file = {Morgan et al. - 2021 - The Cerebellum and Implicit Sequencing Evidence f.pdf:/home/om/gdrive/Zotero_files/M/Morgan et al. - 2021 - The Cerebellum and Implicit Sequencing Evidence f.pdf:application/pdf},
}
@article{kronemer_neuropsychiatric_2021,
title = {Neuropsychiatric symptoms as a reliable phenomenology of cerebellar ataxia},
volume = {20},
issn = {1473-4230},
url = {https://doi.org/10.1007/s12311-020-01195-7},
doi = {10.1007/s12311-020-01195-7},
abstract = {While cerebellar ataxia ({CA}) is a neurodegenerative disease known for motor impairment, changes in mood have also been reported. A full account of neuropsychiatric symptomology in {CA} may guide improvements in treatment regimes, measure the presence and severity of sub-clinical neuropsychiatric disturbance symptomology in {CA}, and compare patient versus informant symptom recognition. Neuropsychiatric phenomena were gathered from {CA} patients with genetic and unknown etiologies and their informants (e.g., spouse or parent). Information was obtained from in-person interviews and the Center for Epidemiologic Studies Depression Scale. Responses were converted to the Neuropsychiatric Inventory-Questionnaire ({NPI}-Q) scores by consensus ratings. Patient {NPI}-Q scores were evaluated for symptom prevalence and severity relative to those obtained from healthy controls. Patient-informant {NPI}-Q score disagreements were evaluated. In this cohort, 95\% of patients presented with at least one neuropsychiatric symptom and 51\% of patients with three or more symptoms. The most common symptoms were anxiety, depression, nighttime behaviors (e.g., interrupted sleep), irritability, disinhibition, abnormal appetite, and agitation. The prevalence of these neuropsychiatric symptoms was uniform across patients with genetic versus unknown etiologies. Patient and informant symptom report disagreements reflected that patients noted sleep impairment and depression, while informants noted irritability and agitation. Neuropsychiatric disturbance is highly prevalent in patients with {CA} and contributes to the phenomenology of {CA}, regardless of etiology. Clinicians should monitor psychiatric health in their {CA} patients, considering that supplemental information from informants can help gauge the impact on family members and caregivers.},
pages = {141--150},
number = {2},
journaltitle = {The Cerebellum},
shortjournal = {The Cerebellum},
author = {Kronemer, Sharif I. and Slapik, Mitchell B. and Pietrowski, Jessica R. and Margron, Michael J. and Morgan, Owen P. and Bakker, Catherine C. and Rosenthal, Liana S. and Onyike, Chiadi U. and Marvel, Cherie L.},
date = {2021},
file = {Kronemer et al. - 2021 - Neuropsychiatric Symptoms as a Reliable Phenomenol.pdf:/home/om/gdrive/Zotero_files/K/Kronemer et al. - 2021 - Neuropsychiatric Symptoms as a Reliable Phenomenol.pdf:application/pdf},
}
@article{monick_characterization_2022,
title = {Characterization of basal ganglia volume changes in the context of {HIV} and polysubstance use},
volume = {12},
issn = {2045-2322},
url = {https://www.nature.com/articles/s41598-022-08364-0},
doi = {10.1038/s41598-022-08364-0},
abstract = {Abstract
{HIV} and psychoactive substances can impact the integrity of the basal ganglia ({BG}), a neural substrate of cognition, motor control, and reward-seeking behaviors. This study assessed {BG} gray matter ({GM}) volume as a function of polysubstance (stimulant and opioid) use and {HIV} status. We hypothesized that comorbid polysubstance use and {HIV} seropositivity would alter {BG} {GM} volume differently than would polysubstance use or {HIV} status alone. We collected structural {MRI} scans, substance use history, and {HIV} diagnoses. Participants who had {HIV} ({HIV} +), a history of polysubstance dependence ({POLY} +), both, or neither completed assessments for cognition, motor function, and risk-taking behaviors (
N
= 93). All three clinical groups showed a left-lateralized pattern of {GM} reduction in the {BG} relative to controls. However, in the {HIV} + /{POLY} + group, stimulant use was associated with increased {GM} volume within the globus pallidus and putamen. This surpassed the effects from opioid use, as indicated by decreased {GM} volume throughout the {BG} in the {HIV}-/{POLY} + group. Motor learning was impaired in all three clinical groups, and in the {HIV} + /{POLY} + group, motor learning was associated with increased caudate and putamen {GM} volume. We also observed associations between {BG} {GM} volume and risk-taking behaviors in the {HIV} + /{POLY}- and {HIV}-/{POLY} + groups. The effects of substance use on the {BG} differed as a function of substance type used, {HIV} seropositivity, and {BG} subregion. Although {BG} volume decreased in association with {HIV} and opioid use, stimulants can, inversely, lead to {BG} volume increases within the context of {HIV}.},
pages = {4357},
number = {1},
journaltitle = {Scientific Reports},
shortjournal = {Sci Rep},
author = {Monick, Andrew J. and Joyce, Michelle R. and Chugh, Natasha and Creighton, Jason A. and Morgan, Owen P. and Strain, Eric C. and Marvel, Cherie L.},
urldate = {2022-03-14},
date = {2022},
langid = {english},
file = {Monick et al. - 2022 - Characterization of basal ganglia volume changes i.pdf:/home/om/gdrive/Zotero_files/M/Monick et al. - 2022 - Characterization of basal ganglia volume changes i.pdf:application/pdf},
}
@article{joyce_quality_2022,
title = {Quality of life changes following the onset of cerebellar ataxia: Symptoms and concerns self-reported by ataxia patients and informants},
issn = {1473-4230},
url = {https://link.springer.com/10.1007/s12311-022-01393-5},
doi = {10.1007/s12311-022-01393-5},
shorttitle = {Quality of Life Changes Following the Onset of Cerebellar Ataxia},
abstract = {Semi-structured interviews of patient accounts and caregiver, or informant, perspectives are a beneficial resource for patients suffering from diseases with complex symptomatology, such as cerebellar ataxia. The aim of this study was to identify, quantify, and compare the ways in which cerebellar ataxia patients’ and informants’ quality of life had changed as a result of living with ataxia. Using a semi-structured interview, responses were collected from patients and informants regarding motor, cognitive, and psychosocial variables. Responses were also collected from patients and informants to open-ended questions that were subsequently categorized into 15 quality of life themes that best represented changes experienced by the patients and informants. Ataxia patients and informants agreed as to the severity of posture/gait, daily activities/fine motor tasks, speech/feeding/swallowing, and oculomotor/vision impairment. It was also demonstrated that severity ratings for specific motor-related functions strongly correlated with corresponding functions within the International Cooperative Ataxia Rating Scale ({ICARS}), and that this interview identified frequency associations between motor impairments and specific psychosocial difficulties, which could be useful for prognostic purposes. Overall, the information obtained from this study characterized the symptoms and challenges to ataxia patients and their caregivers, which could serve as a useful educational resource for those affected by ataxia, clinicians, and researchers.},
journaltitle = {The Cerebellum},
shortjournal = {Cerebellum},
author = {Joyce, Michelle R. and Nadkarni, Prianca A. and Kronemer, Sharif I. and Margron, Michael J. and Slapik, Mitchell B. and Morgan, Owen P. and Rosenthal, Liana S. and Onyike, Chiadi U. and Marvel, Cherie L.},
urldate = {2022-03-30},
date = {2022},
langid = {english},
file = {Joyce et al. - 2022 - Quality of life changes following the onset of cer.pdf:/home/om/gdrive/Zotero_files/J/Joyce et al. - 2022 - Quality of life changes following the onset of cer.pdf:application/pdf},
}
@article{iannuzzelli_association_2022,
title = {The association between educational attainment and {SCA} 3 age of onset and disease course},
volume = {98},
issn = {13538020},
url = {https://linkinghub.elsevier.com/retrieve/pii/S135380202200058X},
doi = {10.1016/j.parkreldis.2022.02.025},
abstract = {Background: The number of trinucleotide {CAG} repeats is inversely correlated with the age at onset ({AAO}) of motor symptoms in individuals with Spinocerebellar Ataxia type 3 ({SCA} 3) and may be responsible for 50\%–60\% of the variability in {AAO}. Drawing from a social determinants of health model, we sought to determine if educational attainment further contributes to the {AAO} and motor symptom progression of {SCA} 3.
Methods: We performed a retrospective chart review in which twenty individuals met criteria for inclusion and had been seen by an ataxia specialist at our hospital between January 2005 and July 2019. {AAO} of motor symptoms and Scale for Assessment and Rating of Ataxia ({SARA}) scores were used as primary outcome measures.
Results: Using a linear regression, we found that having greater {CAG} repeat length and greater than 16 years of education results in an earlier {AAO}. The importance of the {CAG} repeat length on {AAO}, however, is greater amongst individuals with lower education. Using a linear mixed model evaluating {SARA} score over time with {AAO}, we found that less than 16 years of education is associated with faster progression of the disease.
Conclusion: In our group of {SCA} 3 patients, level of education correlated with both the {AAO} and {SARA} scores. Though our findings need to be confirmed with a larger cohort, our study suggests that level of education can have a strong influence on health outcomes in {SCA} 3 and possibly other groups of patients with ataxia.},
pages = {99--102},
journaltitle = {Parkinsonism \& Related Disorders},
shortjournal = {Parkinsonism \& Related Disorders},
author = {Iannuzzelli, Katherine and Shi, Rosa and Carter, Reece and Huynh, Rachel and Morgan, Owen P. and Kuo, Sheng-Han and Bang, Jee and Mills, Kelly A. and Baranano, Kristin and Zee, David S. and Moukheiber, Emile and Roda, Ricardo and Butala, Ankur and Marvel, Cherie and Joyce, Michelle and Li, Ximin and Wang, Jiangxia and Rosenthal, Liana S.},
urldate = {2022-05-27},
date = {2022-05},
langid = {english},
file = {Iannuzzelli et al. - 2022 - The association between educational attainment and.pdf:/home/om/gdrive/Zotero_files/I/Iannuzzelli et al. - 2022 - The association between educational attainment and2.pdf:application/pdf},
}
@article{marvel_quantitative_2022,
title = {Quantitative susceptibility mapping of basal ganglia iron is associated with cognitive and motor functions that distinguish spinocerebellar ataxia type 6 and type 3},
doi = {10.3389/fnins.2022.919765},
journaltitle = {Frontiers in Neuroscience},
author = {Marvel, Cherie L. and Chen, Lin and Joyce, Michelle R. and Morgan, Owen P. and Iannuzzelli, Katherine G. and {LaConte}, Stephen M. and Lisinski, Jonathan M. and Rosenthal, Liana S. and Li, Xu},
date = {2022},
}