Article
Genetics & Heredity
Long Guo, Smrithi Salian, Jing-yi Xue, Nicola Rath, Justine Rousseau, Hyunyun Kim, Sophie Ehresmann, Shahida Moosa, Norio Nakagawa, Hiroshi Kuroda, Jill Clayton-Smith, Juan Wang, Zheng Wang, Siddharth Banka, Adam Jackson, Yan-min Zhang, Zhen-jie Wei, Irina Huening, Theresa Brunet, Hirofumi Ohashi, Molly F. Thomas, Caleb Bupp, Noriko Miyake, Naomichi Matsumoto, Roberto Mendoza-Londono, Gregory Costain, Gabriele Hahn, Nataliya Di Donato, Goekhan Yigit, Takahiro Yamada, Gen Nishimura, K. Mark Ansel, Bernd Wollnik, Martin Hrabe de Angelis, Andre Megarbane, Jill A. Rosenfeld, Vigo Heissmeyer, Shiro Ikegawa, Philippe M. Campeau
Summary: ERI1 is a 30-to-50 exoribonuclease involved in RNA metabolic pathways. Bi-allelic ERI1 variants are associated with a phenotypic dichotomy, causing a severe spondyloepimetaphyseal dysplasia in some individuals with missense variants, while individuals with null variants show mild intellectual disability and digital anomalies. The missense variants lead to a loss of exoribonuclease activity, resulting in defective 5.8S rRNA processing and decreased degradation of histone mRNAs. This study establishes the importance of ERI1-mediated RNA metabolism in human skeletal patterning and chondrogenesis.
AMERICAN JOURNAL OF HUMAN GENETICS
(2023)
Letter
Clinical Neurology
Edoardo Monfrini, Francesca Spagnolo, Margherita Canesi, Agostino Seresini, Augusto Rini, Bruno Passarella, Marco Percetti, Manuela Seia, Stefano Goldwurm, Viviana Cereda, Giacomo P. Comi, Gianni Pezzoli, Alessio Di Fonzo
Summary: VPS13C mutations are associated with early-onset Parkinson's disease and dementia with Lewy bodies. Neuropathological studies on two mutated subjects showed diffuse Lewy body disease.
PARKINSONISM & RELATED DISORDERS
(2022)
Article
Biochemistry & Molecular Biology
Irene M. Haefliger, Emma Marchionatti, Michele Stengard, Sonja Wolf-Hofstetter, Julia M. Paris, Joana G. P. Jacinto, Christine Watte, Katrin Voelter, Laurence M. Occelli, Andras M. Komaromy, Anna Oevermann, Christine Goepfert, Angelica Borgo, Raphaeel Roduit, Mirjam Spengeler, Franz R. Seefried, Cord Droegemueller
Summary: A rare form of recessively inherited day-blindness was identified in Original Braunvieh cattle, caused by a mutation in the CNGB3 gene. Affected animals exhibit loss of cone photoreceptor function while rods continue to function normally, suggesting a potential animal model for further study of CNGB3 function in mammals.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Cell Biology
Hannah Bender, Simone A. Fietz, Franziska Richter, Milos Stanojlovic
Summary: The study in Thy1-aSyn mice reveals the impact of alpha-synuclein pathology on adult neurogenesis, showing an increase in early stage progenitors but no change in late stage progenitors and neurons. Increased astroglia marker in the hippocampus of transgenic mice was not specific to regions of adult neurogenesis, suggesting no commitment of additional early stage progenitors to astroglia lineage.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Clinical Neurology
Martyna M. Grochowska, Ana Carreras Mascaro, Valerie Boumeester, Domenico Natale, Guido J. Breedveld, Hanneke Geut, Wiggert A. van Cappellen, Agnita J. W. Boon, Anneke J. A. Kievit, Esther Sammler, Piero Parchi, Pietro Cortelli, Dario R. Alessi, Wilma D. J. van de Berg, Vincenzo Bonifati, Wim Mandemakers
Summary: Loss-of-function variants in the LRP10 gene are linked to Parkinson's disease, dementia, and other neurodegenerative disorders. LRP10 is highly expressed in astrocytes and interacts with SORL1, potentially playing a crucial role in vesicle trafficking pathways. The specific pattern of LRP10 incorporation into Lewy bodies suggests its involvement in neurodegenerative diseases.
ACTA NEUROPATHOLOGICA
(2021)
Article
Clinical Neurology
Eun Jin Yoon, Jee-Young Lee, Heejung Kim, Dallah Yoo, Jung Hwan Shin, Hyunwoo Nam, Beomseok Jeon, Yu Kyeong Kim
Summary: The presence of MCI in iRBD patients is associated with functional and metabolic changes in brain regions, particularly the occipital and parietal areas. Hypometabolism in the occipital pole, medial occipital, and precuneus regions is predictive of phenoconversion to PD or DLB in patients with iRBD. Evaluation of cognitive function and neuroimaging characteristics could aid in risk stratification for these patients.
Review
Neurosciences
Joshua Harvey, Ehsan Pishva, Leonidas Chouliaras, Katie Lunnon
Summary: In this review, the clinical and pathological characteristics of Lewy body dementias are summarized before discussing research on genetic, epigenetic, transcriptional, and protein signatures associated with these diseases. These studies provide insights into the etiology of these diseases and suggest future research directions.
NEUROBIOLOGY OF DISEASE
(2023)
Article
Neurosciences
Hijiri Shinagawa, Kazuki Ohuchi, Yuya Goto, Kohei Hashimoto, Hideki Kijima, Shogo Maekawa, Hisaka Kurita, Masatoshi Inden
Summary: This study found that vacuolar protein-sorting protein (VPS) may play an important role in the development of Alzheimer's disease (AD), and targeting VPS26 and VPS35 for treatment may help delay the onset of cognitive decline.
JOURNAL OF ALZHEIMERS DISEASE
(2023)
Article
Genetics & Heredity
Yilmaz Yildiz, Can Kosukcu, Damla Aygun, Meltem Akcaboy, Fatma Zehra Oztek Celebi, Yasemin Tasci Yildiz, Gulseren Sahin, Caner Aytekin, Deniz Yuksel, Incilay Lay, Riza Koksal Ozgul, Ali Dursun
Summary: This study describes two siblings from a consanguineous Turkish-Arabic family with a novel MPS-plus syndrome-like disease associated with VPS16 missense variants. The siblings exhibit features of a multisystem storage disorder but do not show dystonia, distinguishing this condition from other reported cases.
Article
Clinical Neurology
James E. Galvin, Stephanie Chrisphonte, Iris Cohen, Keri K. Greenfield, Michael J. Kleiman, Claudia Moore, Mary Lou Riccio, Amie Rosenfeld, Niurka Shkolnik, Marcia Walker, Lun-Ching Chang, Magdalena I. Tolea
Summary: The study tested the performance of the LBD-MOD module in characterizing Lewy body dementia (DLB) and distinguishing it from Alzheimer's disease (AD). Results showed differences between DLB and AD in various symptoms, as well as differences between MCI-DLB and MCI-AD. The LBD-MOD module provided excellent characterization of core features and supportive features to differentiate DLB from AD and also characterize features of MCI-DLB.
ALZHEIMERS & DEMENTIA
(2021)
Article
Geriatrics & Gerontology
Daniel Ferreira, Zuzana Nedelska, Jonathan Graff-Radford, Scott A. Przybelski, Timothy G. Lesnick, Christopher G. Schwarz, Hugo Botha, Matthew L. Senjem, Julie A. Fields, David S. Knopman, Rodolfo Savica, Tanis J. Ferman, Neill R. Graff-Radford, Val J. Lowe, Clifford R. Jack, Ronald C. Petersen, Afina W. Lemstra, Marleen van de Beek, Frederik Barkhof, Frederic Blanc, Paulo Loureiro de Sousa, Nathalie Philippi, Benjamin Cretin, Catherine Demuynck, Jakub Hort, Ketil Oppedal, Bradley F. Boeve, Dag Aarsland, Eric Westman, Kejal Kantarci
Summary: The study found that cerebrovascular disease is associated with gray matter neurodegeneration in DLB patients, which may have implications for the treatment of DLB.
NEUROBIOLOGY OF AGING
(2021)
Article
Veterinary Sciences
Joana G. P. Jacinto, Peter Wohlsein, Irene M. Haefliger, Michael Karl, Michael Pohlers, Lutz Plobner, Walter Gruenberg, Cord Droegemueller
Summary: This article reports a case of hepatic fibrinogen storage disease (HFSD) in a 5-month-old Wagyu calf. The disease is characterized by lethargy, dehydration, acidemia, and increased liver enzyme activities. Histologically, hepatocytes show distinct cytoplasmic inclusions with a ground-glass appearance, which do not stain with the periodic acid-Schiff (PAS) reaction. Whole-genome sequencing identified a deleterious homozygous missense variant in the DGKG gene, adding DGKG to the list of candidate genes for HFSD in other species.
JOURNAL OF VETERINARY INTERNAL MEDICINE
(2023)
Article
Endocrinology & Metabolism
Orly Goldstein, Mali Gana-Weisz, Sandro Banfi, Vincenzo Nigro, Anat Bar-Shira, Avner Thaler, Tanya Gurevich, Anat Mirelman, Nir Giladi, Roy N. Alcalay, Avi Orr-Urtreger
Summary: This study identified five gene variants that are significantly associated with Parkinson's disease risk. These variants may differentially modify the risk of Parkinson's disease depending on the genetic background of the individual.
MOLECULAR GENETICS AND METABOLISM
(2023)
Article
Pediatrics
Arwa Mastoor Alharthi, Babajan Banaganapalli, Sabah M. Hassan, Omran Rashidi, Bandar Ali Al-Shehri, Meshari A. Alaifan, Bakr H. Alhussaini, Hadeel A. Alsufyani, Kawthar Saad Alghamdi, Khalda Khalid Nasser, Yagoub Bin-Taleb, Ramu Elango, Noor Ahmad Shaik, Omar I. Saadah
Summary: In this study, the complex molecular basis of autoimmune diseases (AIDs) was explored using whole exome sequencing and computational biology analysis. The researchers identified genetic variants in the PAK2, TAP2, and PLCL1 genes, which may trigger autoimmune reactions by altering antigen processing and presentation, T cell receptor signaling, and immunodeficiency pathways. Understanding these complex inheritance patterns is important for developing personalized therapies for AID patients.
FRONTIERS IN PEDIATRICS
(2022)
Article
Genetics & Heredity
Janan Mohamad, Liat Samuelov, Sari Assaf, Liron Malki, Kiril Malovitski, Odile Meijers, Noam Adir, Ester Granot, Mor Pavlovsky, Ofer Sarig, Eli Sprecher
Summary: ARCI is a genetically heterogeneous group of non-syndromic disorders characterized by diffuse scaling. This study identified a pathogenic variant in the CLDN1 gene that causes decreased CLDN1 expression in the skin, potentially contributing to the development of ARCI.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2022)
Article
Clinical Neurology
Aurore Delvenne, Johan Gobom, Betty Tijms, Isabelle Bos, Lianne M. Reus, Valerija Dobricic, Mara Ten Kate, Frans Verhey, Inez Ramakers, Philip Scheltens, Charlotte E. Teunissen, Rik Vandenberghe, Jolien Schaeverbeke, Silvy Gabel, Julius Popp, Gwendoline Peyratout, Pablo Martinez-Lage, Mikel Tainta, Magda Tsolaki, Yvonne Freund-Levi, Simon Lovestone, Johannes Streffer, Frederik Barkhof, Lars Bertram, Kaj Blennow, Henrik Zetterberg, Pieter Jelle Visser, Stephanie J. B. Vos
Summary: The pathophysiology of MCI-SNAP is distinct from that of MCI-AD, highlighting the need for different treatment approaches.
ALZHEIMERS & DEMENTIA
(2023)
Article
Clinical Neurology
Wenting Guo, Haibo Wang, Arun Kumar Tharkeshwar, Julien Couthouis, Elke Braems, Pegah Masrori, Evelien Van Schoor, Yannan Fan, Karan Ahuja, Matthieu Moisse, Maarten Jacquemyn, Rodrigo Furtado Madeiro da Costa, Madhavsai Gajjar, Sriram Balusu, Tine Tricot, Laura Fumagalli, Nicole Hersmus, Rekin's Janky, Francis Impens, Pieter Vanden Berghe, Ritchie Ho, Dietmar Rudolf Thal, Rik Vandenberghe, Muralidhar L. Hegde, Siddharthan Chandran, Bart De Strooper, Dirk Daelemans, Philip Van Damme, Ludo Van den Bosch, Catherine Verfaillie
Summary: In this study, we identified NEK6 as a novel therapeutic target for C9orf72 FTD/ALS by performing a kinome-wide CRISPR/Cas9 knock-out screen in human induced pluripotent stem cell-derived cortical neurons. NEK6 was found to regulate poly(PR)-mediated p53-related DNA damage.
ALZHEIMERS & DEMENTIA
(2023)
Article
Clinical Neurology
Jiaze Sun, Francois-Laurent De Winter, Fiona Kumfor, Daphne Stam, Kristof Vansteelandt, Ron Peeters, Stefan Sunaert, Rik Vandenberghe, Mathieu Vandenbulcke, Jan Van den Stock
Summary: This study explores the presence of neural functional compensation in the manifest stage of neurodegenerative diseases. The results suggest that compensatory processes can still occur in clinically manifest neurodegeneration, and these processes may operate along nodes in intrinsically connected networks. The findings highlight the potential of using multidimensional neural markers as novel biomarkers for diagnosis and therapy.
JOURNAL OF NEUROLOGY
(2023)
Article
Clinical Neurology
Sebastiaan Moonen, Marta J. Koper, Evelien Van Schoor, Jolien M. Schaeverbeke, Rik Vandenberghe, Christine A. F. von Arnim, Thomas Tousseyn, Bart De Strooper, Dietmar Rudolf Thal
Summary: The study investigated the contribution of pyroptosis, a pro-inflammatory mechanism of cell death downstream of the inflammasome, to neurodegeneration in Alzheimer's disease (AD). The findings suggest the activation of pyroptosis in specific cell types and its potential link to neuron death in AD.
ACTA NEUROPATHOLOGICA
(2023)
Article
Clinical Neurology
David J. Whiteside, Maura Malpetti, P. Simon Jones, Boyd C. P. Ghosh, Ian Coyle-Gilchrist, John C. van Swieten, Harro Seelaar, Lize Jiskoot, Barbara Borroni, Raquel Sanchez-Valle, Fermin Moreno, Robert Laforce, Caroline Graff, Matthis Synofzik, Daniela Galimberti, Mario Masellis, Maria Carmela Tartaglia, Elizabeth Finger, Rik Vandenberghe, Alexandre de Mendonca, Fabrizio Tagliavini, Chris R. Butler, Isabel Santana, Isabelle Le Ber, Alexander Gerhard, Simon Ducharme, Johannes Levin, Adrian Danek, Markus Otto, Sandro Sorbi, Florence Pasquier, Arabella Bouzigues, Lucy L. Russell, Jonathan D. Rohrer, James B. Rowe, Timothy Rittman
Summary: This study investigated the role of changes in functional networks in predicting cognitive decline and conversion to symptomatic disease in familial frontotemporal dementia (FTD). The study found a characteristic pattern of dynamic network changes in FTD, which were correlated with neuropsychological impairment. Among presymptomatic mutation carriers, this pattern of network dynamics was more prominent in those who later converted to the symptomatic phase. Baseline network dynamic changes predicted future cognitive decline in symptomatic participants and older presymptomatic participants.
ALZHEIMERS & DEMENTIA
(2023)
Article
Clinical Neurology
Elizabeth Finger, Rubina Malik, Martina Bocchetta, Kristy Coleman, Caroline Graff, Barbara Borroni, Mario Masellis, Robert Laforce, Caroline Greaves, Lucy L. Russell, Rhian S. Convery, Arabella Bouzigues, David M. Cash, Markus Otto, Matthis Synofzik, James B. Rowe, Daniela Galimberti, Pietro Tiraboschi, Robert Bartha, Christen Shoesmith, Maria Carmela Tartaglia, John C. van Swieten, Harro Seelaar, Lize C. Jiskoot, Sandro Sorbi, Chris R. Butler, Alexander Gerhard, Raquel Sanchez-Valle, Alexandre de Mendonca, Fermin Moreno, Rik Vandenberghe, Isabelle Le Ber, Johannes Levin, Florence Pasquier, Isabel Santana, Jonathan D. Rohrer, Simon Ducharme
Summary: This study investigates the hypothesis that genetic mutations causing frontotemporal dementia (FTD) have neurodevelopmental consequences. The researchers examined brain structure and function in young adult mutation carriers and found differences between preclinical mutation carriers and familial non-carriers at a mean age of 26 years. These findings have implications for therapeutic interventions and further studies on early pathophysiologic processes in FTD.
Article
Clinical Neurology
Jonas Van Lent, Leen Vendredy, Elias Adriaenssens, Tatiana Da Silva Authier, Bob Asselbergh, Marcus Kaji, Sarah Weckhuysen, Ludo van den Bosch, Jonathan Baets, Vincent Timmerman
Summary: Charcot-Marie-Tooth disease (CMT) is the most common inherited disorder of the peripheral nervous system (PNS), with CMT1A accounting for 40-50% of cases. This study presents an organoid model derived from induced pluripotent stem cells that contains various cell types of the PNS, including myelinating human Schwann cells. They used this model to study disease signatures of CMT1A and found that downregulating PMP22 expression can ameliorate the myelin defects in CMT1A-organoids.
Article
Cell Biology
Elias Adriaenssens, Bob Asselbergh, Pablo Rivera-Mejias, Sven Bervoets, Leen Vendredy, Vicky De Winter, Katrien Spaas, Riet de Rycke, Gert van Isterdael, Francis Impens, Thomas Langer, Vincent Timmerman
Summary: Adriaenssens et al. provide evidence that cytosolic small heat shock proteins localize to the mitochondrial intermembrane space and function as molecular chaperones. The study demonstrates that small heat shock proteins are imported into the mitochondrial intermembrane space and play a role in protein quality control. Depletion of these proteins results in mitochondrial dysfunction, while their presence prevents protein aggregation. The findings also suggest a potential connection between HSPB1 mutations and mitochondrial dysfunction in Charcot-Marie-Tooth disease.
NATURE CELL BIOLOGY
(2023)
Article
Neuroimaging
Emma S. Luckett, Jolien Schaeverbeke, Steffi De Meyer, Katarzyna Adamczuk, Koen Van Laere, Patrick Dupont, Rik Vandenberghe
Summary: This study examined the importance of measuring longitudinal changes in amyloid load in the asymptomatic stage of Alzheimer's disease and determined the optimal regions of interest and reference regions for this measurement. The results showed that using the whole cerebellum or cerebellar grey matter as reference regions could best detect the effect of the APOE4 gene on longitudinal amyloid load.
NEUROIMAGE-CLINICAL
(2023)
Article
Multidisciplinary Sciences
Biljana Ermanoska, Bob Asselbergh, Laura Morant, Maria-Luise Petrovic-Erfurth, Seyyedmohsen Hosseinibarkooie, Ricardo Leitao-Goncalves, Leonardo Almeida-Souza, Sven Bervoets, Litao Sun, LaTasha Lee, Derek Atkinson, Akram Khanghahi, Ivaylo Tournev, Patrick Callaerts, Patrik Verstreken, Xiang-Lei Yang, Brunhilde Wirth, Avital A. Rodal, Vincent Timmerman, Bruce L. Goode, Tanja A. Godenschwege, Albena Jordanova
Summary: Mutations in tyrosyl-tRNA synthetase and other tRNA ligases cause Charcot-Marie-Tooth peripheral neuropathy, with dysregulation of F-actin organization playing a role. A gain-of-function mechanism is implicated in the pathogenicity. Genetic modulation of F-actin improves neuronal features in flies expressing the disease-causing mutations. This study reveals the evolutionary-conserved role of YARS1 as an F-actin organizer and its link to tRNA-synthetase-induced neurodegeneration.
NATURE COMMUNICATIONS
(2023)
Article
Chemistry, Medicinal
Annelies Heylen, Yannick Vermeiren, Ido P. Kema, Martijn van Faassen, Claude van der Ley, Debby Van Dam, Peter P. De Deyn
Summary: Despite distinct clinical profiles, ALS and FTD patients share pathological features, with a substantial percentage of patients displaying a mixed disease phenotype. Kynurenine metabolism plays a role in dementia-associated neuroinflammation and has been linked to both diseases. Kynurenine pathway metabolite levels were significantly lower in ALS patients compared to FTD, EOAD, and control subjects in multiple brain regions. This suggests that the contribution of kynurenine metabolism in neuroinflammation is lower in ALS than in FTD or EOAD, possibly due to differences in age of onset.
Editorial Material
Neurosciences
Rose Bruffaerts, David Crosiers
Summary: This article introduces real-world multicentric data on the treatment of neuropsychiatric symptoms in patients with frontotemporal degeneration (FTD), highlighting the importance of knowledge sharing among clinicians. The authors also emphasize the need for improved collection of clinical data to provide more robust evidence for future therapies in FTD and other rare neurological diseases.
JOURNAL OF ALZHEIMERS DISEASE
(2023)
Article
Linguistics
Antonietta Gabriella Liuzzi, Karen Meersmans, Gerrit Storms, Simon De Deyne, Patrick Dupont, Rik Vandenberghe
Summary: The study found that co-occurrence-based similarities calculated by predictive natural language processing models are not good at representing affective content but are powerful in their own way. The functional and neuroanatomical relationship between these two distinct ways of representing word meaning was investigated. The findings revealed a correlation between affective similarities and word embedding similarities in specific regions of the superior temporal sulcus.
NEUROBIOLOGY OF LANGUAGE
(2023)
Article
Cell Biology
Yael Hirschberg, Natalia Valle-Tamayo, Oriol Dols-Icardo, Sebastiaan Engelborghs, Bart Buelens, Roosmarijn E. Vandenbroucke, Yannick Vermeiren, Kurt Boonen, Inge Mertens
Summary: Dementia is a leading cause of death worldwide, and this study focused on analyzing the proteome of cerebrospinal fluid (CSF) and CSF-derived extracellular vesicles (EVs) from patients with Alzheimer's disease, dementia with Lewy bodies, and Parkinson's disease dementia. The analysis identified differentially expressed proteins that can be helpful for differential diagnosis and offer new avenues for research into disease-specific pharmacological therapeutics.
JOURNAL OF EXTRACELLULAR VESICLES
(2023)
Proceedings Paper
Acoustics
Bastiaan Tamm, Rik Vandenberghe, Hugo Van Hamme
Summary: This paper focuses on the performance analysis of a pre-trained model in speech quality assessment. The study identifies two optimal regions, lower-level features and high-level features, and explores their differences and potential reasons. Additionally, the paper attempts to fuse the two optimal feature depths and assesses the performance of the proposed models.
2023 IEEE WORKSHOP ON APPLICATIONS OF SIGNAL PROCESSING TO AUDIO AND ACOUSTICS, WASPAA
(2023)