Article
Neurosciences
Liansheng Chang, Shahid Hussain Soomro, Hongfeng Zhang, Hui Fu
Summary: Ankfy1 protein plays a critical role in the development and maintenance of Purkinje cells in the cerebellum. Its absence leads to loss of most Purkinje cells in the cerebellum, resulting in impaired motor function.
FRONTIERS IN CELLULAR NEUROSCIENCE
(2021)
Article
Neurosciences
Sharif I. Kronemer, Mitchell B. Slapik, Jessica R. Pietrowski, Michael J. Margron, Owen P. Morgan, Catherine C. Bakker, Liana S. Rosenthal, Chiadi U. Onyike, Cherie L. Marvel
Summary: Neuropsychiatric symptoms are common in patients with cerebellar ataxia, with 95% experiencing at least one symptom. The most prevalent symptoms include anxiety, depression, nighttime behaviors, irritability, and agitation. Discrepancies in symptom recognition between patients and informants highlight the importance of monitoring psychiatric health in CA patients.
Article
Clinical Neurology
Roderick P. P. W. M. Maas, Sven Killaars, Bart P. C. van de Warrenburg, Dennis J. L. G. Schutter
Summary: The CCAS-S is effective in identifying cognitive deficits in SCA3 patients, showing a high discriminative ability and correlating with disease severity measures.
JOURNAL OF NEUROLOGY
(2021)
Article
Neurosciences
Stephanie Suzanne de Oliveira Scott, Jose Luiz Pedroso, Victor Vitalino Elias, Paulo Ribeiro Nobrega, Emmanuelle Silva Tavares Sobreira, Marcela Patricia de Almeida, Maria Thereza Drumond Gama, Breno Kazuo Massuyama, Orlando Graziani Povoas Barsottini, Norberto Anizio Ferreira Frota, Pedro Braga-Neto
Summary: This study translated and culturally adapted the CCAS scale to Brazilian Portuguese and validated it in a Brazilian population. The translated and adapted scale demonstrated good internal consistency and reliability, making it a potential reliable tool for screening cognitive symptoms in patients with cerebellar disease.
Review
Clinical Neurology
Joao Lemos, Mario Manto
Summary: Significant therapeutic advances have been made in the treatment of episodic and progressive cerebellar ataxias, downbeat nystagmus, and some vestibular disorders. Recent research findings have highlighted the positive effects of certain medications and treatments on symptom improvement and quality of life in patients.
CURRENT OPINION IN NEUROLOGY
(2022)
Review
Clinical Neurology
Santiago Perez-Lloret, Bart van de Warrenburg, Malco Rossi, Carmen Rodriguez-Blazquez, Theresa Zesiewicz, Jonas A. M. Saute, Alexandra Durr, Masatoyo Nishizawa, Pablo Martinez-Martin, Glenn T. Stebbins, Anette Schrag, Matej Skorvanek
Summary: This study evaluated the clinimetric properties of various ataxia rating scales and functional tests, identifying recommended scales and tests for patients with major hereditary ataxias and other cerebellar disorders. However, the main limitations of these instruments include limited assessment of patients on the severe end of the spectrum and children. Further research is needed in these populations.
MOVEMENT DISORDERS
(2021)
Article
Clinical Neurology
Sandra Becker-Bense, Lena Kaiser, Regina Becker, Katharina Feil, Carolin Muth, Nathalie L. Albert, Marcus Unterrainer, Peter Bartenstein, Michael Strupp, Marianne Dieterich
Summary: This study aimed to investigate the central compensatory processes in patients with cerebellar ataxia (CA) using brain imaging. The results showed that treatment with acetyl-dl-leucine (AL) led to an increase in sensorimotor metabolism and a decrease in cerebellar metabolism in responders. This may be related to the amplification of inhibitory cerebellar mechanisms.
JOURNAL OF NEUROLOGY
(2023)
Review
Biochemistry & Molecular Biology
Victor Olmos, Neha Gogia, Kimberly Luttik, Fatema Haidery, Janghoo Lim
Summary: SCA1 is a late-onset, progressive, dominantly inherited genetic disease characterized by the loss of Purkinje cells in the cerebellum and motor deficits. In addition to these symptoms, there are also extra-cerebellar effects such as respiratory problems, cognitive defects, memory impairment, anxiety, and depression. The existing gap in research on extra-cerebellar regions in SCA1 highlights the need for further investigation.
CELLULAR AND MOLECULAR LIFE SCIENCES
(2022)
Article
Substance Abuse
Eva M. Mueller-Oehring, Tilman Schulte, Adolf Pfefferbaum, Edith V. Sullivan
Summary: The disruption of neural communication between the cerebellum and cortical brain regions contributes to ataxia in individuals with alcohol use disorder. The severity of ataxia is correlated with the degree of aberrant neural connectivity, which is influenced by lifetime alcohol consumption. Long-term sobriety may help restore normal neural communication and alleviate ataxia.
DRUG AND ALCOHOL DEPENDENCE
(2022)
Article
Cell Biology
Kristin Mayoral-Palarz, Andreia Neves-Carvalho, Sara Duarte-Silva, Daniela Monteiro-Fernandes, Patricia Maciel, Kamran Khodakhah
Summary: Abnormal cerebellar output is present in the CMVMJD135 SCA3 mouse model and is correlated with the onset of ataxia but does not progress with age. This abnormal output is accompanied by nonprogressive abnormal activity of the Purkinje cells. Alterations in intrinsic Purkinje cell pacemaking and synaptic inputs contribute to abnormal Purkinje cell activity. These findings suggest that abnormal cerebellar physiology is an early, consistent contributor to pathophysiology in SCA3 and could be a therapeutic target.
DISEASE MODELS & MECHANISMS
(2022)
Article
Neurosciences
Dominik Jaeschke, Katharina M. Steiner, Dae-In Chang, Jens Claassen, Ellen Uslar, Andreas Thieme, Marcus Gerwig, Viktor Pfaffenrot, Thomas Hulst, Alexander Gussew, Stefan Maderwald, Sophia L. Goericke, Martina Minnerop, Mark E. Ladd, Jurgen R. Reichenbach, Dagmar Timmann, Andreas Deistung
Summary: This study used magnetic resonance imaging (MRI) to investigate the impact of aging on the cerebellar nuclei and cortex. The findings were compared with patients suffering from spinocerebellar ataxia type 6 (SCA6). Additional MRI scans were conducted on a subset of patients and controls after one year. The conversion of T2 *-weighted phase images to quantitative susceptibility maps (QSM) allowed for the detection of changes in iron content in the cerebellar nuclei.
Article
Clinical Neurology
Chi-Ying R. Lin, Nadia Amokrane, Serena Chen, Tiffany X. Chen, Ruo-Yah Lai, Paula Trinh, Michael J. Minyetty, Haidyn Emmerich, Ming-Kai Pan, Daniel O. Claassen, Sheng-Han Kuo
Summary: This study describes the development and validation of a new scale (CIA) to assess impulsive and compulsive behaviors (ICBs) in cerebellar ataxia patients. The findings show that patients with ICBs have three times higher total CIA scores than those without ICBs, and CIA demonstrates good internal consistency across all items.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
(2023)
Review
Neurosciences
Marios Hadjivassiliou, Mario Manto, Hiroshi Mitoma
Summary: The cerebellum is vulnerable to immune attacks and can be affected by various immune-mediated cerebellar ataxias (IMCAs). These conditions have diverse etiologies, presenting with different clinical features, with cerebellar ataxia being a main phenotype. Further research and diagnosis are needed to better understand primary autoimmune cerebellar ataxia (PACA).
Article
Clinical Neurology
Carolina Montoro-Gamez, Hendrik Nolte, Thibaut Molinie, Giovanna Evangelista, Simon E. Troeder, Esther Barth, Milica Popovic, Aleksandra Trifunovic, Branko Zevnik, Thomas Langer, Elena Rugarli
Summary: Montoro-Gamez et al. have developed a new mouse model for hereditary spastic paraplegia caused by mutations in the SPG7 gene. The model reproduces the phenotypic features of the disease and demonstrates a cerebellar-specific role for SARM1 in triggering axonal degeneration and neuroinflammation. The study reveals that the lack of SPG7 rewires the mitochondrial proteome, leading to decreased mito-ribosomal subunits and remodelling of mitochondrial solute carriers and transporters. Deletion of SARM1 delays the onset of symptoms, rescues mitochondrial swelling and axonal degeneration, and dampens neuroinflammation in a neuron-specific manner.
Article
Clinical Neurology
Yuting Shi, Guangdong Zou, Zhao Chen, Linlin Wan, Linliu Peng, Huirong Peng, Lu Shen, Kun Xia, Rong Qiu, Beisha Tang, Hong Jiang
Summary: This study compared the efficacy of low-frequency repetitive transcranial magnetic stimulation (rTMS) and intermittent Theta Burst Stimulation (iTBS) in SCA3 patients. The results showed that both 1 Hz rTMS and iTBS were effective in improving the symptoms of ataxia in SCA3 patients.
JOURNAL OF NEUROLOGY
(2023)
Article
Psychology, Clinical
Maverick Clissold, Simon F. Crowe
JOURNAL OF CLINICAL AND EXPERIMENTAL NEUROPSYCHOLOGY
(2019)
Review
Psychology, Clinical
Catherine E. Prado, Simon F. Crowe
NEUROPSYCHOLOGY REVIEW
(2019)
Article
Psychology, Clinical
Joel R. Goulter, Lauren E. Fitzpatrick, Simon F. Crowe
Summary: This meta-analysis explored the relationship between lesion location and specific navigational deficits in individuals with acquired brain injury (ABI). Results showed that ABI populations performed poorly on navigation tests, with core navigational skills including landmark processing, spatial processing, and spatial/feature binding and associative learning. A sequential processing model was developed to illustrate information transfer between these skills and the generation of navigational knowledge.
JOURNAL OF CLINICAL AND EXPERIMENTAL NEUROPSYCHOLOGY
(2021)
Review
Psychology, Clinical
Dion L. Braganza, Lauren E. Fitzpatrick, Mai L. Nguyen, Simon F. Crowe
Summary: During the interictal period, migraineurs showed a moderate negative effect on complex attention, immediate and delayed memory, spatial cognition, and executive functioning. This effect was not related to migraine history, attack frequency, or participant age. However, the lack of performance validity testing and limited data on mood symptomatology and migraine medication use in the included studies may potentially overestimate the magnitude of the effect.
NEUROPSYCHOLOGY REVIEW
(2022)
Article
Psychology, Multidisciplinary
Daniel Uiterwijk, Dana Wong, Robyn Stargatt, Simon F. Crowe
Summary: This study found inconsistencies in the use of validity testing in Australia, with clinicians in clinical settings relying more on subjective judgements than objective test findings. Lack of time was cited as the main barrier to incorporating validity tests, indicating a need for more time-efficient methods. Australian guidelines for validity testing in neuropsychological assessments are urgently needed to address validity test failure rates in clinical settings.
AUSTRALIAN PSYCHOLOGIST
(2021)
Article
Substance Abuse
Matt S. Treeby, Simon M. Rice, Michael J. Wilson, Simon F. Crowe, David Kealy, Catherine E. Prado, Raimondo Bruno
Summary: The study found that overall alcohol consumption was associated with both positive and negative alcohol use outcome expectancies. Shame-prone individuals believed that alcohol helps reduce physiological arousal and social anxiety, while guilt-prone individuals believed that alcohol can help avoid negative emotional experiences.
JOURNAL OF SUBSTANCE USE
(2022)
Review
Psychology, Clinical
Daniel Uiterwijk, Robyn Stargatt, Sam Humphrey, Simon F. Crowe
Summary: This meta-analysis examines the relationship between cognitive test performance and emotional symptoms in adults with TBI, finding small, negative associations between depression and cognitive domains, as well as some relationships between anxiety or PTSD and cognitive performance in mTBI samples. The impact of exclusion of participants with atypical performance on validity tests was also explored, with limited statistically significant changes in effect sizes.
NEUROPSYCHOLOGY REVIEW
(2022)
Article
Psychology, Clinical
Daniel Uiterwijk, Robyn Stargatt, Simon F. Crowe
Summary: This study examined the impact of performance and symptom validity on cognitive tests and emotional symptoms in litigating adults with traumatic brain injury (TBI). The findings showed that regardless of TBI severity, performance and symptom validity had a significant impact on cognitive test performance and emotional symptom report. When validity test performance was controlled, the relationship between emotional symptoms and cognitive test performance diminished substantially, and validity test performance had a larger impact on cognitive test performance.
ARCHIVES OF CLINICAL NEUROPSYCHOLOGY
(2022)
Article
Psychiatry
Oscar Barbarin, Brigitte Khoury, Martina Klicperova-Baker, German Gutierrez, Ava Thompson, Prakash Padakannaya, Simon Crowe
Summary: The psychological impact of the COVID-19 pandemic needs to be addressed by psychology organizations, who can provide help through clinical services, training community workers, assisting political leaders, and more. This pandemic occurs in an era of advanced connectivity where both scientific information exchange and misinformation spread rapidly, emphasizing the need for psychological support and effective communication strategies.
AMERICAN JOURNAL OF ORTHOPSYCHIATRY
(2021)
Article
Psychology, Clinical
Simon F. Crowe, Davide M. Cammisuli, Elizabeth K. Stranks
ARCHIVES OF CLINICAL NEUROPSYCHOLOGY
(2020)
Article
Psychology, Multidisciplinary
Simon F. Crowe, Cathy Prado
AUSTRALIAN PSYCHOLOGIST
(2020)
Article
Gerontology
Catherine E. Prado, Stephanie Watt, Matt S. Treeby, Simon F. Crowe
PSYCHOLOGY AND AGING
(2019)
Article
Psychology, Clinical
Simon F. Crowe, Elizabeth K. Stranks
ARCHIVES OF CLINICAL NEUROPSYCHOLOGY
(2018)
Article
Clinical Neurology
Davide M. Cammisuli, Simon Crowe
NEUROPSYCHIATRIC DISEASE AND TREATMENT
(2018)
Article
Psychology, Multidisciplinary
Stephanie Watt, Ben Ong, Simon F. Crowe
AUSTRALIAN JOURNAL OF PSYCHOLOGY
(2018)