A Systematic Review of the Spectrum and Prevalence of Non‐Motor Symptoms in Adults with Hereditary Cerebellar Ataxias

Malek, Naveed; Makawita, Chulika; Al‐Sami, Yaqub; Aslanyan, Aram; Silva, Rajith de

doi:10.1002/mdc3.13532

Cited by 10 publications

(6 citation statements)

References 65 publications

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“…CA leads to difficulty in coordination, balance, and fine motor control. Cognitive impairment in CA is also expected as the disease progresses, especially in attention and executive functions ( Fancellu et al, 2013 ; Tran et al, 2020 ; Malek et al, 2022 ). Motor function is frequently evaluated via the United Parkinson’s disease Rating Scale (UPDRS, Goetz, 2003 ) in PD, and in CA via the Scale for Assessment and Rating of Ataxia (SARA, Schmitz-Hübsch et al, 2006 ).…”

Section: Introductionmentioning

confidence: 99%

Remote assessment of cognition in Parkinson’s disease and Cerebellar Ataxia: the MoCA test in English and Hebrew

Binoy,

Montaser-Kouhsari,

Ponger

et al. 2024

Front. Hum. Neurosci.

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There is a critical need for accessible neuropsychological testing for basic research and translational studies worldwide. Traditional in-person neuropsychological studies are inherently difficult to conduct because testing requires the recruitment and participation of individuals with neurological conditions. Consequently, studies are often based on small sample sizes, are highly time-consuming, and lack diversity. To address these challenges, in the last decade, the utilization of remote testing platforms has demonstrated promising results regarding the feasibility and efficiency of collecting patient data online. Herein, we tested the validity and generalizability of remote administration of the Montreal Cognitive Assessment (MoCA) test. We administered the MoCA to English and Hebrew speakers from three different populations: Parkinson’s disease, Cerebellar Ataxia, and healthy controls via video conferencing. First, we found that the online MoCA scores do not differ from traditional in-person studies, demonstrating convergent validity. Second, the MoCA scores of both our online patient groups were lower than controls, demonstrating construct validity. Third, we did not find differences between the two language versions of the remote MoCA, supporting its generalizability to different languages and the efficiency of collecting binational data (USA and Israel). Given these results, future studies can utilize the remote MoCA, and potentially other remote neuropsychological tests to collect data more efficiently across multiple different patient populations, language versions, and nations.

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Section: Introductionmentioning

confidence: 99%

Remote assessment of cognition in Parkinson’s disease and Cerebellar Ataxia: the MoCA test in English and Hebrew

Binoy,

Montaser-Kouhsari,

Ponger

et al. 2024

Front. Hum. Neurosci.

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“…In this study, subjective cognitive complaints occurred in 29% ( n = 24) of the patients with degenerative cerebellar ataxias. Recently, a review was published in which the prevalence of cognitive symptoms in spinocerebellar ataxias was estimated between 23 and 75% [ 30 ]. This broad range was based on a variety of articles that applied different methods of identifying the cognitive sequalae of cerebellar disorders.…”

Section: Discussionmentioning

confidence: 99%

Cognitive Complaints and Their Impact on Daily Life in Patients with Degenerative Cerebellar Disorders

Reumers,

Schutter,

Maas

et al. 2023

Cerebellum

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Cognitive and affective sequelae of cerebellar disease are receiving increased attention, but their actual rate of occurrence remains unclear. Complaints may have a significant impact on patients, affecting social behavior and psychological well-being. This study aims to explore the extent of subjective cognitive and affective symptoms in patients with degenerative ataxias in the Netherlands. An explorative study was set up in a heterogeneous group of degenerative ataxia patients. Self-reported cognition was evaluated in terms of executive functioning and affect (Dysexecutive Questionnaire/DEX), and memory/attention (Cognitive Failures Questionnaire/CFQ). The Daily Living Questionnaire (DLQ) was administered to quantify the impact on daily life. Furthermore, informants completed questionnaires to obtain insight into patients’ self-awareness and social cognition (Observable Social Cognition Rating Scale/OSCARS). This study shows that subjective complaints in the domains of (1) executive functioning and/or (2) memory and attention were reported by 29% of all patients (n = 24/84). In addition, more difficulties in daily life in terms of language/comprehension and community/participation were reported, and this was more common for patients with cognitive complaints than those without. Discrepancies between patients and informants about executive functioning were present in both directions. Deficits in social cognition were not identified at the group level, but more social-cognitive problems were observed in patients with more executive problems rated by informants. Taken together, our findings indicate that cognitive complaints are common in patients with degenerative cerebellar disorders and have an impact on daily life functioning. These results may help to increase awareness of cognitive symptoms and their impact in patients with cerebellar ataxia, their significant others, and professional caregivers.

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“…Clinical characteristics, severity and disease course vary between patients, and depend among others on the nature of the pathological mutation and the possible involvement of extracerebellar damage (van de Warrenburg et al, 2002; Klockgether et al, 2019; Diallo et al, 2020; Manto et al, 2020; Shah et al, 2021). Gait ataxia as a consequence of cerebellar degeneration is hardly ever an isolated feature, but occurs often together with problems with speech (Kent et al, 1979; Mariën et al, 2014), swallowing (Vogel et al, 2015; Sasegbon et al, 2020; Sasegbon and Hamdy, 2023) and breathing (Ebert et al, 1995; Sriranjini et al, 2010; Krohn et al, 2023), as well as with non-motor symptoms (Schmahmann, 1998; Hoche et al, 2018; Schmahmann et al, 2019; Malek et al, 2022). Effective treatments for most cerebellar disorders are currently lacking, although possible strategies are under intense investigation, with varying degrees of success (Buijsen et al, 2019; Mitoma et al, 2021; Bhartiya et al, 2022; Srinivasan et al, 2022; Synofzik et al, 2022).…”

Section: Introductionmentioning

confidence: 99%

Different Purkinje cell pathologies cause specific patterns of progressive ataxia in mice

Jaarsma,

Birkisdóttir,

van Vossen

et al. 2023

Preprint

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Background Gait ataxia is one of the most common and impactful consequences of cerebellar dysfunction. Purkinje cells, the sole output neurons of the cerebellar cortex, are often involved in the underlying pathology, but their specific functions during locomotor control in health and disease remain obfuscated. Objectives We aimed to describe the effect of gradual adult-onset Purkinje cell degeneration on gaiting patterns in mice and whether two different mechanisms that both lead to Purkinje cell degeneration caused different patterns in the development of gait ataxia. Methods Using the ErasmusLadder together with a newly developed limb detection algorithm and machine learning-based classification, we subjected mice to a physically challenging locomotor task with detailed analysis of single limb parameters, intralimb coordination and whole-body movement. We tested two Purkinje cell-specific mouse models, one involving stochastic cell death due to impaired DNA repair mechanisms (Pcp2-Ercc1-/-), the other carrying the mutation that causes spinocerebellar ataxia type 1 (Pcp2-ATXN1[82Q]). Results Both mouse models showed increasingly stronger gaiting deficits, but the sequence with which gaiting parameters deteriorated depended on the specific mutation. Conclusions Our longitudinal approach revealed that gradual loss of Purkinje cell function can lead to a complex pattern of loss of function over time, and this pattern depends on the specifics of the pathological mechanisms involved. We hypothesize that this variability will also be present in disease progression in patients, and our findings will facilitate the study of therapeutic interventions in mice, as very subtle changes in locomotor abilities can be quantified by our methods.

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A Systematic Review of the Spectrum and Prevalence of Non‐Motor Symptoms in Adults with Hereditary Cerebellar Ataxias

Cited by 10 publications

References 65 publications

Remote assessment of cognition in Parkinson’s disease and Cerebellar Ataxia: the MoCA test in English and Hebrew

Remote assessment of cognition in Parkinson’s disease and Cerebellar Ataxia: the MoCA test in English and Hebrew

Cognitive Complaints and Their Impact on Daily Life in Patients with Degenerative Cerebellar Disorders

Different Purkinje cell pathologies cause specific patterns of progressive ataxia in mice

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