Article
Clinical Neurology
Mitchell Lycett, Cathy Kexin Cui, Dijana Dragicevich, Roger Harris, Karl Ng
Summary: This case report describes a patient with hypertrophic olivary degeneration (HOD) caused by secondary obstructive hydrocephalus. The patient presented with progressive hiccups and stridor, along with ocular pendular nystagmus and palatal myoclonus. MRI imaging showed T2 hyperintensity within the bilateral inferior olivary nuclei consistent with stage 3 radiological HOD. This is the first reported association of HOD with bilateral vocal cord adductor dystonia.
Review
Clinical Neurology
S. van der Veen, M. R. Klamer, J. W. J. Elting, J. H. T. M. Koelman, A. M. M. van der Stouwe, M. A. J. Tijssen
Summary: This article provides a systematic review on electrophysiological features used to differentiate between hyperkinetic movement disorders, focusing mainly on clinical tremor syndromes. Basic and task-related features in tremor syndromes overlap, but advanced signal analyses are more suited for specific types of tremor. Combinations of electrodiagnostic features are helpful in identifying different types of tremor.
PARKINSONISM & RELATED DISORDERS
(2021)
Review
Clinical Neurology
Bharath Kumar Surisetti, Shweta Prasad, Vikram Venkappayya Holla, Nitish Kamble, Ravi Yadav, Pramod Kumar Pal
Summary: Occasionally, movement disorders can occur after interventional procedures, and they can be more disabling than the original disease. Delays in diagnosing and misdiagnoses as functional movement disorders are common due to poor knowledge and awareness. This review discusses the phenomenology, pathophysiology, and potential treatments of movement disorders caused by interventional procedures.
JOURNAL OF MOVEMENT DISORDERS
(2023)
Article
Clinical Neurology
Sangeetha Yoganathan, Madhan Kumar, Suvasini Sharma, Smruti Patel, Sumita Danda, Maya Thomas
Summary: A 5-year-old girl presented with myoclonus and frequent falls for 2.5 years. A pathogenic heterozygous nonsense variant in exon 3 of the SGCE gene was identified.
Article
Clinical Neurology
Elisabetta Belli, Eleonora Del Prete, Elisa Unti, Sonia Mazzucchi, Giovanni Palermo, Roberto Ceravolo
Summary: This study presents a case of a patient with MD who was successfully treated with Perampanel, a novel treatment for myoclonus. The patient had previously tried various medications without success, but experienced beneficial effects with the use of Perampanel.
NEUROLOGICAL SCIENCES
(2023)
Article
Clinical Neurology
Jeanne P. Vu, Ha Yeon Lee, Qiyu Chen, Elizabeth Cisneros, Richard L. Barbano, Christopher G. Goetz, Joseph Jankovic, Hyder A. Jinnah, Joel S. Perlmutter, Brian D. Berman, Mark I. Appelbaum, Glenn T. Stebbins, Cynthia L. Comella, David A. Peterson
Summary: The severity of head tremor in cervical dystonia is associated with longer disease duration, while pain severity is linked to younger age of onset. The relationship between head tremor severity and pain severity differs between jerky and regular head tremor subtypes, suggesting heterogeneous underlying mechanisms in the presentation of cervical dystonia.
JOURNAL OF NEUROLOGY
(2021)
Article
Clinical Neurology
Ajith Cherian, K. P. Divya, Asish Vijayaraghavan, Syam Krishnan
Summary: Spinocerebellar ataxia 21 (SCA21) caused by TMEM240 disease-associated variation is characterized by a delayed acquisition of language, motor, and social skills, leading to severe cognitive impairment. This case report highlights the importance of genetic testing in patients with myoclonus dystonia (M-D) syndrome and suggests a trial of levodopa for dystonia caused by TMEM240 variation.
Article
Clinical Neurology
Kempaiah Rakesh, Nitish Kamble, Ravi Yadav, Amitabh Bhattacharya, Vikram V. Holla, Manjunath Netravathi, Shekhar Seshadri, Pramod Kumar Pal
Summary: The study retrospectively reviewed 39 pediatric FMD patients regarding their socioeconomic and cultural backgrounds, with majority from urban areas and low socioeconomic status. The main symptoms included myoclonus, tremor, and dystonia. Identifying precipitating factors and psychiatric comorbidities is crucial for the management of pediatric FMD.
CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES
(2021)
Article
Neuroimaging
Freek Nieuwhof, Ivan Toni, Michiel F. Dirkx, Cecile Gallea, Marie Vidailhet, Arthur W. G. Buijink, Anne-Fleur van Rootselaar, Bart P. C. van de Warrenburg, Rick C. Helmich
Summary: This study investigates the role of the cerebello-thalamo-cortical circuit and the basal ganglia in dystonic tremor syndrome, linking tremor fluctuations to cerebral activity. Tremor-related activity was found in specific brain regions, with grey matter volume changes and altered effective connectivity indicating involvement of the cerebello-thalamo-cortical circuit and pallidum in the pathophysiology of dystonic tremor syndromes. Deficient input from the cerebellum to the thalamo-cortical circuit and thalamic hypertrophy may play a key role in the generation of dystonic tremor syndrome.
NEUROIMAGE-CLINICAL
(2022)
Article
Medicine, Research & Experimental
Corina Din-Lovinescu, Andrew Blitzer
Summary: Palatal tremor, also known as palatal myoclonus, is a movement disorder characterized by rhythmic muscular contractions of the soft palate. Variants of this condition may involve synchronous tremors in other head and neck muscles, making it important for otolaryngologists to be aware of its wide clinical spectrum.
Review
Clinical Neurology
Rodger J. Elble
Summary: Essential tremor plus (ET plus) is a new tremor classification that includes patients who meet the criteria for essential tremor but also have additional soft signs. Soft signs are not sufficient for diagnosing other tremor syndromes or movement disorders. Bayesian analysis is used to estimate the probability of alternative diagnosis in patients with possible ET. ET plus is a distinct classification and should not be considered a subtype of essential tremor. The clinical interpretation of ET plus is enhanced with the Bayesian analysis of associated soft signs.
JOURNAL OF CLINICAL NEUROLOGY
(2022)
Article
Clinical Neurology
Beatriz G. Giraldez, Jose M. Serratosa, Salvatore Striano, Akio Ikeda, Pasquale Striano, Antonietta Coppola
Summary: Familial adult myoclonus epilepsy (FAME) is an autosomal dominant condition characterized by myoclonic tremor and epilepsy, mainly occurring in adulthood. The clinical course is generally non-progressive or slowly progressive, and epilepsy can be controlled with appropriate medication, allowing individuals to have a normal life expectancy. However, the severity of myoclonus increases with age and can lead to disability in elderly individuals. Since routine genetic tests cannot detect the non-coding repeat expansions responsible for FAME, a clinical diagnosis accompanied by neurophysiological testing is essential for guiding the selection of specific genetic techniques by geneticists.
Article
Medicine, General & Internal
Belen Gonzalez-Herrero, Ilaria Antonella Di Vico, Erlick Pereira, Mark Edwards, Francesca Morgante
Summary: Tremor is a symptom of dystonia and can be treated with oral medications, botulinum neurotoxin, or brain surgery. This study evaluated the outcome of different treatments for upper limb dystonic tremors and found that botulinum neurotoxin and surgery had better efficacy compared to oral medications, which had higher side effects and dropout rates. Further research is needed for better patient selection.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Neurosciences
Maggie Fagan, Laura Scorr, Doug Bernhardt, Ellen J. Hess, Joel S. Perlmutter, Carlos A. Pardo, H. A. Jinnah
Summary: The study found a significant reduction in Purkinje neuron and torpedo body density in patients with blepharospasm, but no changes in other measures. These results demonstrate subtle neuropathological changes similar to those reported in subjects with cervical dystonia, which may underlie some of the subtle imaging changes reported for blepharospasm.
EXPERIMENTAL NEUROLOGY
(2021)
Review
Clinical Neurology
Sanjay Pandey, Sonali Bhattad, Shreya Dinesh
Summary: This article reviews research articles on tremor in primary monogenic dystonia, finding that tremor is reported in multiple dystonia genes with varying frequencies. Some genes such as HPCA and ANO3 have the highest prevalence of tremor in isolated dystonia, while SLC6A3 has the highest prevalence of tremor in combined dystonia.
CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS
(2021)
Article
Clinical Neurology
Antonio Boza-Serrano, Agathe Vrillon, Karolina Minta, Agnes Paulus, Lluis Camprubi-Ferrer, Megg Garcia, Ulf Andreasson, Anna Antonell, Malin Wennstrom, Gunnar Gouras, Julien Dumurgier, Emmanuel Cognat, Laura Molina-Porcel, Mircea Balasa, Javier Vitorica, Raquel Sanchez-Valle, Claire Paquet, Jose Luis Venero, Kaj Blennow, Tomas Deierborg
Summary: Galectin-3 is a crucial player in microglial activation in Alzheimer's disease, with increased levels observed in AD patients and association with tau inclusions. It clusters with other neuroinflammatory markers in cerebrospinal fluid and may serve as a potential target for AD-modifying therapies.
ACTA NEUROPATHOLOGICA
(2022)
Article
Anatomy & Morphology
Valerie Godefroy, Benedicte Batrancourt, Sylvain Charron, Arabella Bouzigues, David Bendetowicz, Guilhem Carle, Armelle Rametti-Lacroux, Stephanie Bombois, Emmanuel Cognat, Raffaella Migliaccio, Richard Levy
Summary: This study investigated the relationship between resting state functional connectivity and apathy in behavioral variant frontotemporal dementia (bvFTD). Two dimensions of apathy - global reduction of goal-directed behaviors and specific deficit of self-initiation - were identified using behavioral metrics and questionnaires. The findings revealed that global apathy was associated with decreased prefrontal cortex activity and reduced connectivity of salience network hubs, while the decrease in self-initiation was related to increased connectivity of parietal default-mode network hubs. This dimensional approach provided insights into the functional connectivity correlates of apathy in bvFTD, specifically highlighting the role of connectivity in the volitional process.
BRAIN STRUCTURE & FUNCTION
(2022)
Article
Biochemical Research Methods
Caroline Peltier, Francois-Xavier Lejeune, Lars G. T. Jorgensen, Armelle Rametti-Lacroux, Delphine Tanguy, Valerie Godefroy, David Bendetowicz, Guilhem Carle, Emmanuel Cognat, Stephanie Bombois, Raffaella Migliaccio, Richard Levy, Frederic Marin, Benedicte Batrancourt
JOURNAL OF NEUROSCIENCE METHODS
(2022)
Article
Psychology, Multidisciplinary
Virgile Clergue-Duval, Thomas Barre, Emmanuel Cognat, Anne-Laure Brichet, Claire Geraud, Julien Azuar, Philippe Michaud, Dorothee Lecallier, Sonia Arfaoui-Geffroy, Eric Hispard, Claire Paquet, Frank Bellivier, Frank Questel, Florence Vorspan, ResAlCog Care Network
Summary: This study compared the cognitive changes of patients with severe alcohol-related cognitive impairment (ARCI) and patients with Alzheimer's disease (AD) during inpatient treatment. The results showed that severe ARCI patients improved in executive functioning, while AD patients experienced worsening memory.
FRONTIERS IN PSYCHOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Virgile Clergue-Duval, Agathe Vrillon, Jerome Jeanblanc, Frank Questel, Julien Azuar, Gregory Fouquet, Francois Mouton-Liger, Dorian Rollet, Eric Hispard, Elodie Bouaziz-Amar, Vanessa Bloch, Alexandra Dereux, Emmanuel Cognat, Cynthia Marie-Claire, Jean-Louis Laplanche, Frank Bellivier, Claire Paquet, Mickael Naassila, Florence Vorspan
Summary: This translational study investigated the potential of plasma tau protein, neurofilament light chain (NfL), glial fibrillary acidic protein (GFAP) and ubiquitin carboxy-terminal hydrolase L1 (UCHL1) as predictive biomarkers of alcohol withdrawal-associated brain toxicity. The study found that NfL levels were higher in the alcohol cessation group and tau and UCHL1 levels were positively associated with diazepam dosage. In a preclinical study, NfL levels were higher in the alcohol deprivation effect (ADE) model. Plasma tau, NfL and UCHL1 show promise as biomarkers of brain suffering during alcohol withdrawal.
Article
Behavioral Sciences
Delphine Tanguy, Armelle Rametti-Lacroux, Arabella Bouzigues, Dario Saracino, Isabelle Le Ber, Valerie Godefroy, Xavier Morandi, Pierre Jannin, Richard Levy, Benedicte Batrancourt, Raffaella Migliaccio, ECOCAPTURE Study Group
Summary: Disinhibition is a core symptom in bvFTD, but its characterization and management options are still unclear. This study explored disinhibition in an original semi-ecological situation and identified different subtypes of disinhibition, highlighting the importance of differentiation and non-pharmacological management.
Article
Geriatrics & Gerontology
Matthieu Lilamand, Elodie Bouaziz-Amar, Julien Dumurgier, Emmanuel Cognat, Claire Hourregue, Francois Mouton-Liger, Manuel Sanchez, Anne-Cecile Troussiere, Matthieu Martinet, Jacques Hugon, Claire Paquet
Summary: This study examined the associations between plasma leptin levels and cognitive impairment stages, as well as CSF biomarkers in AD. Results showed a negative correlation between plasma leptin levels and CSF β-amyloid concentration, and confirmed the diagnosis of AD through CSF biomarkers.
JOURNALS OF GERONTOLOGY SERIES A-BIOLOGICAL SCIENCES AND MEDICAL SCIENCES
(2023)
Article
Medicine, General & Internal
Camilla Caprioglio, Federica Ribaldi, Leonie N. C. Visser, Carolina Minguillon, Lyduine E. Collij, Oriol Grau-Rivera, Philip Zeyen, Jose Luis Molinuevo, Juan Domingo Gispert, Valentina Garibotto, Christian Moro, Zuzana Walker, Paul Edison, Jean-Francois Demonet, Frederik Barkhof, Philip Scheltens, Isadora Lopes Alves, Rossella Gismondi, Gill Farrar, Andrew W. Stephens, Frank Jessen, Giovanni B. Frisoni, Daniele Altomare
Summary: Individuals who are amyloid-positive with subjective cognitive decline (SCD+) are at higher risk of developing dementia. The disclosure of a positive amyloid-PET result might have psychological risks, but such change did not reach the threshold for clinical concern.
Article
Geriatrics & Gerontology
Emmanuel Cognat, Severine Sabia, Alexandra Fayel, Matthieu Lilamand, Ron Handels, Sara Fascendini, Sverre Bergh, Giovanni B. Frisoni, Andrea Fabbo, Magdalina Tsolaki, Lutz Frolich, Oliver Peters, Paola Merlo, Alfonso Ciccone, Patrizia Mecocci, Julien Dumurgier, Carlo A. Defanti, Jacques Hugon, Claire Paquet
Summary: A study found that the profiles of behavioral and psychological symptoms of dementia (BPSD) vary depending on etiology in patients with mild-to-moderate BPSD. However, it is not known if similar differences exist in patients with severe BPSD.
AMERICAN JOURNAL OF GERIATRIC PSYCHIATRY
(2023)
Letter
Geriatrics & Gerontology
Matthieu Lilamand, Elodie Bouaziz-Amar, Julien Dumurgier, Emmanuel Cognat, Claire Hourregue, Francois Mouton-Liger, Manuel Sanchez, Anne-Cecile Troussiere, Matthieu Martinet, Jacques Hugon, Claire Paquet
JOURNALS OF GERONTOLOGY SERIES A-BIOLOGICAL SCIENCES AND MEDICAL SCIENCES
(2023)
Article
Clinical Neurology
Juan Lantero-Rodriguez, Agathe Vrillon, Aida Fernandez-Lebrero, Paula Ortiz-Romero, Anniina Snellman, Laia Montoliu-Gaya, Wagner. S. S. Brum, Emmanuel Cognat, Julien Dumurgier, Albert Puig-Pijoan, Irene Navalpotro-Gomez, Greta Garcia-Escobar, Thomas K. Karikari, Eugeen Vanmechelen, Nicholas. J. J. Ashton, Henrik Zetterberg, Marc Suarez-Calvet, Claire Paquet, Kaj Blennow
Summary: CSF p-tau235 is associated with CSF amyloidosis in two independent memory clinic cohorts, accurately identifying Alzheimer's disease in both mild cognitive impairment and dementia patients. The diagnostic performance of CSF p-tau235 in clinical settings is comparable to that of other CSF p-tau measurements, indicating its suitability for supporting a biomarker-based diagnosis of Alzheimer's disease.
ALZHEIMERS RESEARCH & THERAPY
(2023)
Article
Clinical Neurology
Daniele Altomare, Frederik Barkhof, Camilla Caprioglio, Lyduine E. Collij, Philip Scheltens, Isadora Lopes Alves, Femke Bouwman, Johannes Berkhof, Ingrid S. van Maurik, Valentina Garibotto, Christian Moro, Julien Delrieu, Pierre Payoux, Laure Saint-Aubert, Anne Hitzel, Jose Luis Molinuevo, Oriol Grau-Rivera, Juan Domingo Gispert, Alexander Drzezga, Frank Jessen, Philip Zeyen, Agneta Nordberg, Irina Savitcheva, Vesna Jelic, Zuzana Walker, Paul Edison, Jean-Francois Demonet, Rossella Gismondi, Gill Farrar, Andrew W. Stephens, Giovanni B. Frisoni
Summary: Amyloid positron emission tomography (PET) can directly assess amyloid deposition in Alzheimer disease. This study evaluated the clinical effect of amyloid PET in memory clinic patients and found that early amyloid PET allowed patients to receive an etiological diagnosis with high confidence after only 3 months.
Article
Clinical Neurology
Leslie Grasset, Vincent Planche, Vincent Bouteloup, Chabha Azouani, Bruno Dubois, Frederic Blanc, Claire Paquet, Renaud David, Catherine Belin, Therese Jonveaux, Adrien Julian, Jeremie Pariente, Jean-Francois Mangin, Genevieve Chene, Carole Dufouil, Memento Cohort Study Grp
Summary: This study examines whether physical activity can moderate the association between biomarkers of brain pathologies and dementia risk. The results show that individuals who engage in high-intensity physical activity have weaker associations with brain pathologies and a lower risk of developing dementia.
ALZHEIMERS & DEMENTIA
(2023)
Article
Neurosciences
Aline Mendes, Sverre Bergh, Bruno Mario Cesana, Ron Handels, Alfonso Ciccone, Emmanuel Cognat, Andrea Fabbo, Sara Fascendini, Giovanni B. Frisoni, Lutz Froelich, Maria Cristina Jori, Patrizia Mecocci, Paola Merlo, Oliver Peters, Magdalini Tsolaki, Carlo Alberto Defanti
Summary: This study evaluated the effectiveness of Special Care Units (SCU-B) in alleviating behavioral and psychological symptoms of dementia (BPSD) and improving the quality of life (QoL) of patients and their caregivers. The results showed that SCU-B had acute effectiveness during behavioral crises but did not show long-term superiority in managing BPSD. The impact on QoL was inconclusive.
JOURNAL OF ALZHEIMERS DISEASE
(2023)
Article
Neurosciences
Bruno Mario Cesana, Eleni Poptsi, Magda Tsolaki, Sverre Bergh, Alfonso Ciccone, Emmanuel Cognat, Andrea Fabbo, Sara Fascendini, Giovanni B. Frisoni, Lutz Froelich, Maria Cristina Jori, Patrizia Mecocci, Paola Merlo, Oliver Peters, Carlo Alberto Defanti
Summary: This study conducted confirmatory and exploratory factor analyses on the Cohen-Mansfield Agitation Inventory (CMAI) to assess agitation in dementia patients. The results suggested that the current three-factor structure was not confirmed, and a new four-factor structure based on clinical criteria was proposed for a more accurate evaluation of symptoms.
