Article
Acoustics
Jia-hui Yan, K. A. I. LI, Yi-lun Ge, W. E. N. LI, Pu-zhi Wang, H. O. N. G. Jin, Jin-ru Zhang, J. I. N. G. Chen, F. E. N. Wang, Ya-ping Yang, Ying-chun Zhang, D. A. N. LI, Cheng-jie Mao, Chun-feng Liu
Summary: This study aimed to investigate the predictive performance of quantitative substantia nigra (SN) evaluations using transcranial sonography for levodopa dyskinesia (LID) in Parkinson's disease (PD). The study found that the total hyperechogenic area of the SN was associated with LID. A model combining clinical features and the hyperechogenic area of the SN showed better efficiency in predicting LID development.
ULTRASOUND IN MEDICINE AND BIOLOGY
(2023)
Article
Acoustics
Xin Yu Fu, Ying Chun Zhang, Chang Wei Ding, Ping Zhao, Qing Yuan Liu, Min Yang, Cai Shan Wang, Xiao Fang Chen, Ying Zhang, Yu Jing Sheng, Pan Mao, Cheng Jie Mao, Chun Feng Liu
Summary: This study explored the asymmetry of bilateral substantia nigra hyperechogenicity (SN+) and its relationship with clinical features in Parkinson's disease (PD). The findings revealed that SN+ asymmetry could reflect the asymmetrical characteristics of PD, and the dynamic change in SN+ asymmetry might indicate a dynamic change in motor asymmetry in PD patients.
ULTRASOUND IN MEDICINE AND BIOLOGY
(2022)
Review
Clinical Neurology
Xishun Ma, Tongxia Li, Lizhen Du, Tongliang Han
Summary: Parkinson's disease is a common nervous system disease with motor retardation and resting tremor as its main manifestations. Early diagnosis of Parkinson's disease is difficult, but transcranial sonography has been widely used for its diagnosis and treatment. This article reviews the recent advances in the study of Parkinson's disease using transcranial sonography.
FRONTIERS IN NEUROLOGY
(2022)
Article
Clinical Neurology
Sha Zhu, Yaxi Wang, Yinyin Jiang, Ruxin Gu, Min Zhong, Xu Jiang, Bo Shen, Jun Zhu, Jun Yan, Yang Pan, Li Zhang
Summary: This study aimed to explore the relationship between substantia nigra hyperechogenicity (SNH) and the clinical features of Parkinson's disease (PD). The results showed that SNH was significantly correlated with activities of daily living and gait impairment in Chinese patients with PD, suggesting the formation of SNH might be a dynamic biomarker reflecting disease severity.
NEUROPSYCHIATRIC DISEASE AND TREATMENT
(2022)
Article
Acoustics
Chen Chu Ying, Cai Shan Wang, Ya Kun Ren, Chang Wei Ding, Ying Chun Zhang, Jian Wu, Min Yang, Ying Zhang, Pan Mao, Yu Jing Sheng, Xiao Fang Chen, Cheng Jie Mao, Chun Feng Liu
Summary: The study investigates the correlation between substantia nigra hyperechogenicity and serum iron metabolism parameters in PIGD subtype patients with Parkinson's disease. Decreased serum ceruloplasmin levels may be associated with the development of substantia nigra hyperechogenicity, and the area of hyperechogenicity is negatively correlated with serum transferrin levels.
ULTRASOUND IN MEDICINE AND BIOLOGY
(2023)
Review
Neurosciences
Beatrice Heim, Marina Peball, Johannes Hammermeister, Atbin Djamshidian, Florian Krismer, Klaus Seppi
Summary: The study evaluated the diagnostic accuracy of transcranial sonography for differential diagnosis of Parkinson's disease and essential tremor. The results showed that substantia nigra hyperechogenicity has high diagnostic accuracy for discriminating between Parkinson's disease and essential tremor. TCS is a low-cost, widely available, non-invasive, and radiation-free marker.
JOURNAL OF PARKINSONS DISEASE
(2022)
Article
Neurosciences
Jannik Prasuhn, Robert Strautz, Felicitas Lemmer, Shalida Dreischmeier, Meike Kasten, Henrike Hanssen, Marcus Heldmann, Norbert Brueggemann
Summary: The study aimed to elucidate the magnetic resonance (MR) morphological representation of hyperechogenicity (HE+) in Parkinson's disease (PD) patients. The results showed no significant associations between HE+ and nigral NM loss or iron deposition revealed by NM-weighted (NMI) and susceptibility-weighted MRI (SWI). Therefore, transcranial sonography (TCS) and MRI parameters should be considered complementary, and further research is needed on the pathophysiological correlates of HE+.
JOURNAL OF PARKINSONS DISEASE
(2022)
Article
Clinical Neurology
Qing-yuan Liu, Min Yang, Yu-jing Sheng, Xiao-fang Chen, Cai-shan Wang, Ying Zhang, Pan Mao, Chang-wei Ding, Rui Chen, Ying-chun Zhang, Chun-feng Liu
Summary: This study investigated the relationship between patients with obstructive sleep apnea (OSA) and substantia nigra (SN) hyperechogenicity as well as cerebral blood flow measured by transcranial sonography (TCS). The results showed that OSA patients had a higher detection rate of SN hyperechogenicity on the left side compared to the right side, and the left middle cerebral arteries had reduced blood flow, consistent with more severe damage to the left SN. There was no correlation between the severity of OSA and the detection rate of SN hyperechogenicity or hemodynamic parameters.
SLEEP AND BREATHING
(2023)
Article
Neurosciences
Pilar Alvarez Jerez, Jose Luis Alcantud, Lucia de los Reyes-Ramirez, Anni Moore, Clara Ruz, Francisco Vives Montero, Noela Rodriguez-Losada, Prabhjyot Saini, Ziv Gan-Or, Chelsea X. Alvarado, Mary B. Makarious, Kimberley J. Billingsley, Cornelis Blauwendraat, Alastair J. Noyce, Andrew B. Singleton, Raquel Duran, Sara Bandres-Ciga
Summary: This study aimed to explore the genetic and genomic connection between neurodegeneration with brain iron accumulation (NBIA) and Parkinson's Disease (PD). Screening for known and rare pathogenic mutations in genes linked to NBIA in PD cases and controls, four NBIA variants were associated with PD risk. However, no enrichment of heterozygous variants in NBIA-related genes risk was identified in PD cases versus controls. Overall, the study suggests that NBIA and PD may be separate molecular entities.
NPJ PARKINSONS DISEASE
(2023)
Article
Clinical Neurology
Tushar Kamath, Evan Z. Macosko
Summary: Parkinson's disease is characterized by the death of dopaminergic neurons in the substantia nigra. Recent advances in genomic profiling have identified specific pathways and genetic variants involved in the susceptibility of dopaminergic neurons in Parkinson's disease. This provides new opportunities for understanding and developing therapies for this complex disorder.
MOVEMENT DISORDERS
(2023)
Article
Clinical Neurology
Marta Gonzalez-Sepulveda, Joan Compte, Thais Cuadros, Alba Nicolau, Camille Guillard-Sirieix, Nuria Penuelas, Marina Lorente-Picon, Annabelle Parent, Jordi Romero-Gimenez, Joana M. Cladera-Sastre, Ariadna Laguna, Miquel Vila
Summary: Neurons that accumulate the highest levels of neuromelanin with age are also the most susceptible to degeneration in Parkinson's disease. Using a neuromelanin-producing rat model, Gonzalez-Sepulveda, Compte et al. show that slowing down age-dependent neuromelanin production can help prevent Parkinson's disease-like features.
Article
Geriatrics & Gerontology
Elinor Tzvi, Richard Bey, Matthias Nitschke, Norbert Brueggemann, Joseph Classen, Thomas F. Muente, Ulrike M. Kraemer, Jost-Julian Rumpf
Summary: Research suggests individuals with Parkinson's disease have specific deficits in learning sequential movements, potentially linked to reduced hippocampal activity and increased substantia nigra activity. Disease-specific deficits were also observed in learning stimulus-response associations in Parkinson's patients.
FRONTIERS IN AGING NEUROSCIENCE
(2021)
Article
Biochemistry & Molecular Biology
Xingxing Jian, Guihu Zhao, He Chen, Yanhui Wang, Jinchen Li, Lu Xie, Bin Li
Summary: This study utilized transcriptomics analysis to identify several hub DEGs between PD patients and normal controls, showing high correlations among these genes. A Cox model with an eight-gene signature was constructed to predict PD progression and survival successfully in an independent dataset, highlighting the clinical significance of these findings.
COMPUTATIONAL AND STRUCTURAL BIOTECHNOLOGY JOURNAL
(2022)
Article
Clinical Neurology
Celia Garcia-Malo, Sabela Novo-Ponte, Andrea Castro-Villacanas Farzamnia, Sara Boi, Carolina Miranda Castillo, Sofia Romero Peralta, Veronica Martinez Vidal, Laura Botta, Samantha Anguizola, Irene Cano-Pumarega, Diego Garcia-Borreguero
Summary: There was no correlation found between systemic iron parameters and substantia nigra iron deposits in restless legs syndrome patients. Transcranial sonography of the substantia nigra might provide a more valid estimate and be useful in evaluating RLS patients.
Article
Neurosciences
Martin Martinez, Mikel Ariz, Ignacio Alvarez, Gabriel Castellanos, Miquel Aguilar, Jorge Hernandez-Vara, Nuria Caballol, Alicia Garrido, Angels Bayes, Dolores Vilas, Maria Jose Marti, Pau A. Pastor, Carlos Ortiz de Solorzano, Maria Pastor
Summary: Quantifying and locating brainstem NM and iron through MRI can reveal specific patterns linked to LRRK2-PD or iPD. PD patients had lower NM CR and nVol in ventral-caudal SNc, while iron increased in lateral, medial-rostral, and caudal SNc. LC CR and nVol were better discriminators among subgroups, with LRRK2-PD showing similar LC NM CR and nVol as controls and larger LC NM nVol and RN iron CR than iPD. SNc NM was the best discriminator between HC and PD according to ROC analysis.
NPJ PARKINSONS DISEASE
(2023)
Article
Cardiac & Cardiovascular Systems
Fabian Barbieri, Agne Adukauskaite, Anna Heidbreder, Elisabeth Brandauer, Melanie Bergmann, Ambra Stefani, Evi Holzknecht, Thomas Senoner, Andrea Rubatscher, Wilfried Schgoer, Markus Stuehlinger, Bernhard Erich Pfeifer, Axel Bauer, Florian Hintringer, Birgit Hoegl, Wolfgang Dichtl
Summary: The study investigates the role of CSA in pacing-induced cardiomyopathy and shows that CRT upgrading significantly improves CSA, leading to similar outcomes in PICM patients without pre-existent CSA.
AMERICAN JOURNAL OF CARDIOLOGY
(2021)
Article
Clinical Neurology
L. Nobili, A. de Weerd, G. Rubboli, S. Beniczky, C. Derry, S. Eriksson, P. Halasz, B. Hoegl, J. Santamaria, R. Khatami, P. Ryvlin, J. Remi, P. Tinuper, C. Bassetti, R. Manni, M. Koutroumanidis, L. Vignatelli
Summary: This study aimed to define the standard procedures for the diagnostic pathway of patients with sleep-related epilepsy syndromes (SREs) and the general management of patients with SRE and comorbidity with sleep disorders. Recommendations were provided for specific SREs regarding anamnestic evaluation and tools for capturing the event, as well as emphasizing the importance of early diagnosis and treatment of sleep disorders for seizure control in patients with SRE.
EUROPEAN JOURNAL OF NEUROLOGY
(2021)
Article
Clinical Neurology
N. Tuovinen, A. Stefani, T. Mitterling, A. Heidbreder, B. Frauscher, E. R. Gizewski, W. Poewe, B. Hoegl, C. Scherfler
Summary: Patients with restless legs syndrome showed alterations in connectivity within different resting-state networks, with some networks showing increased connectivity and others showing decreased connectivity, corresponding to regions associated with attention, response inhibitory control, and processing of sensory information. Patients on dopaminergic medication displayed increased connectivity between the thalamus and prefrontal regions.
EUROPEAN JOURNAL OF NEUROLOGY
(2021)
Article
Clinical Neurology
Kheireddin Mufti, Uladzislau Rudakou, Eric Yu, Lynne Krohn, Jennifer A. Ruskey, Farnaz Asayesh, Sandra B. Laurent, Dan Spiegelman, Isabelle Arnulf, Michele T. M. Hu, Jacques Y. Montplaisir, Jean-Francois Gagnon, Alex Desautels, Yves Dauvilliers, Gian Luigi Gigli, Mariarosaria Valente, Francesco Janes, Birgit Hoegl, Ambra Stefani, Evi Holzknecht, Karel Sonka, David Kemlink, Wolfgang Oertel, Annette Janzen, Giuseppe Plazzi, Elena Antelmi, Michela Figorilli, Monica Puligheddu, Brit Mollenhauer, Claudia Trenkwalder, Friederike Sixel-Doering, Valerie Cochen De Cock, Christelle Charley Monaca, Anna Heidbreder, Luigi Ferini-Strambi, Femke Dijkstra, Mineke Viaene, Beatriz Abril, Bradley F. Boeve, Ronald B. Postuma, Guy A. Rouleau, Ziv Gan-Or
Summary: The study found no significant role of autosomal dominant and recessive PD or atypical parkinsonism genes in the risk of iRBD. There was no association between rare heterozygous variants in the tested genes and the risk of iRBD. Homozygous and compound heterozygous carriers were not overrepresented in iRBD patients compared to controls.
MOVEMENT DISORDERS
(2021)
Article
Clinical Neurology
Florian Krismer, Vincent Beliveau, Klaus Seppi, Christoph Mueller, Georg Goebel, Elke R. Gizewski, Gregor K. Wenning, Werner Poewe, Christoph Scherfler
Summary: Observer-independent analysis of microstructural integrity in distinguishing MSA and PD patients has high diagnostic accuracy, with better consistency compared to manual analysis. Classification using the C5.0 hierachical decision tree algorithm identified mean diffusivity of the middle cerebellar peduncle and putamen as the most predictive parameters.
MOVEMENT DISORDERS
(2021)
Article
Clinical Neurology
Victoria Sidoroff, Cecilia Raccagni, Christine Kaindlstorfer, Sabine Eschlboeck, Alessandra Fanciulli, Roberta Granata, Bjorn Eskofier, Klaus Seppi, Werner Poewe, Johann Willeit, Stefan Kiechl, Philipp Mahlknecht, Heike Stockner, Kathrin Marini, Oliver Schorr, Gregorio Rungger, Jochen Klucken, Gregor Wenning, Heiko Gassner
Summary: The study compared gait variability at different walking speeds between patients with Parkinson-variant multiple system atrophy, idiopathic Parkinson's disease, and a control group of older adults. Multiple system atrophy patients displayed higher gait variability in various parameters compared to controls, while Parkinson's patients did not. Variability parameters were significantly correlated with the postural instability/gait difficulty subscore in both disease groups.
JOURNAL OF NEUROLOGY
(2021)
Article
Clinical Neurology
Alex Iranzo, Graham Fairfoul, Anutra Chumbala Na Ayudhaya, Monica Serradell, Ellen Gelpi, Isabel Vilaseca, Raquel Sanchez-Valle, Carles Gaig, Joan Santamaria, Eduard Tolosa, Renata L. Riha, Alison J. E. Green
Summary: The study found that RT-QuIC can detect misfolded alpha-synuclein in the CSF of patients with IRBD with both high sensitivity and specificity, indicating that detection of alpha-synuclein may serve as an early marker for Parkinson's disease and dementia with Lewy bodies.
Article
Multidisciplinary Sciences
Kristine Farmen, Sara K. Nissen, Morten G. Stokholm, Alex Iranzo, Karen Ostergaard, Monica Serradell, Marit Otto, Kristina B. Svendsen, Alicia Garrido, Dolores Vilas, Per Borghammer, Joan Santamaria, Arne Moller, Carles Gaig, David J. Brooks, Eduardo Tolosa, Nicola Pavese, Marina Romero-Ramos
Summary: This study found abnormal monocytic markers in the peripheral blood of iRBD patients, which were associated with brain inflammation and neuronal dysfunction. The findings suggest a cross-talk between the peripheral and brain in synucleinopathy-related disorders.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2021)
Article
Clinical Neurology
Simon F. Eskildsen, Alex Iranzo, Morten G. Stokholm, Kristian Staer, Karen Ostergaard, Monica Serradell, Marit Otto, Kristina B. Svendsen, Alicia Garrido, Dolores Vilas, Per Borghammer, Joan Santamaria, Arne Moller, Carles Gaig, David J. Brooks, Eduardo Tolosa, Leif Ostergaard, Nicola Pavese
Summary: The study revealed that patients with isolated REM sleep behavior disorder exhibit significant cortical blood flow abnormalities and microvascular flow disturbances, which are associated with cognitive impairment. This suggests that pharmacological restoration of perivascular neurotransmitter levels may help preserve cognitive function in patients with this prodromal phenotype of parkinsonism.
Article
Clinical Neurology
Ambra Stefani, Alex Iranzo, Evi Holzknecht, Daniela Perra, Matilde Bongianni, Carles Gaig, Beatrice Heim, Monica Serradell, Luca Sacchetto, Alicia Garrido, Stefano Capaldi, Almudena Sanchez-Gomez, Maria Paola Cecchini, Sara Mariotto, Sergio Ferrari, Michele Fiorini, Joachim Schmutzhard, Pietro Cocchiara, Isabel Vilaseca, Lorenzo Brozzetti, Salvatore Monaco, M. Jose Marti, Klaus Seppi, Eduardo Tolosa, Joan Santamaria, Birgit Hoegl, Werner Poewe, Gianluigi Zanusso
Summary: RT-QuIC detection of alpha-synuclein aggregates in olfactory mucosa showed a linkage between alpha-synuclein pathology and olfactory dysfunction in patients with isolated RBD and Parkinson's disease, indicating a potential for early detection and preventive therapies.
Article
Neurosciences
Ariadna Laguna, Helena Xicoy, Eduardo Tolosa, Monica Serradell, Dolores Vilas, Carles Gaig, Manel Fernandez, Oscar Yanes, Joan Santamaria, Nuria Amigo, Alex Iranzo, Miquel Vila
Summary: Nuclear magnetic resonance spectroscopy was used to analyze the lipoprotein and protein glycosylation profiles of iRBD patients. Differences were found in the profiles between patients with initial predominant parkinsonism or dementia. Predictive models were constructed to predict the future clinical outcomes of iRBD patients.
NPJ PARKINSONS DISEASE
(2021)
Article
Clinical Neurology
Marta Soto, Alex Iranzo, Sara Lahoz, Manel Fernandez, Monica Serradell, Carles Gaig, Paula Melon, Maria-Jose Marti, Joan Santamaria, Jordi Camps, Ruben Fernandez-Santiago, Mario Ezquerra
Summary: Specific miRNA biosignatures in IRBD patients have the potential to serve as progression biomarkers for predicting clinical outcomes of PD and DLB.
MOVEMENT DISORDERS
(2022)
Article
Clinical Neurology
Alejandra Collia, Alex Iranzo, Monica Serradell, Amaia Munoz-Lopetegi, Gerard Maya, Joan Santamaria, Raquel Sanchez-Valle, Carles Gaig
Summary: A study found that former professional football players are more likely to develop Parkinson's disease and dementia with Lewy bodies after being diagnosed with isolated REM sleep behavior disorder (IRBD). The researchers suggest that screening for IRBD in retired professional football players may help identify individuals with underlying neurodegenerative diseases.
JOURNAL OF NEUROLOGY
(2023)
Article
Clinical Neurology
Alex Iranzo, Angela Mammana, Amaia Munoz-Lopetegi, Sofia Dellavalle, Gerard Maya, Marcello Rossi, Monica Serradell, Simone Baiardi, Aurora Arqueros, Corinne Quadalti, Andres Perissinotti, Edoardo Ruggeri, Joan Santamaria Cano, Carles Gaig, Piero Parchi
Summary: This study compares the ability of real-time quaking-induced conversion (RT-QuIC) assay to detect misfolded alpha-synuclein (AS) in the skin and cerebrospinal fluid (CSF) for the identification of patients with isolated REM sleep behavior disorder (IRBD). The results show that RT-QuIC detects AS in the skin and CSF with similar high sensitivity, specificity, and agreement, and can serve as a patient selection strategy for future neuroprotective trials targeting AS in IRBD.
Meeting Abstract
Clinical Neurology
G. Maya, A. Iranzo, C. Gaig, J. Santamaria, M. Serradell, L. Molina-Porcel, E. Gelpi, I. Aldecoa
JOURNAL OF SLEEP RESEARCH
(2022)
