Article
Clinical Neurology
Sophia Caldas Gonzaga da Costa, Flavio e de Rezende-Filho, Julian Leticia de Freitas, Paula Camila Alves de Assis Pereira Matos, Bruno Della-Ripa, Marcondes Cavalcante Franca, Wilson Marques, Mariana Santos, Igor Vasconcelos Barros Cronemberger, Thiago Cardoso Vale, Fernando Kok, Isabel Alonso, Jose Luiz Pedroso, Orlando G. P. Barsottini
Summary: Through genetic investigation, it was found that AOA2 and AOA4 were the most common subtypes of autosomal recessive cerebellar ataxia plus oculomotor apraxia in Brazil. Pathogenic variants in SETX, PNKP, and APTX genes were frequently identified, while mutations in PIK3R5 and XRCC1 were less common.
MOVEMENT DISORDERS
(2022)
Article
Clinical Neurology
Xuan Wu, Nan Dong, Zhensheng Liu, Tieyu Tang, Meirong Liu
Summary: Ataxia with oculomotor apraxia type 1 (AOA1) is a rare genetic disorder characterized by childhood-onset progressive cerebellar ataxia. This study reports the first genetically confirmed patient of AOA1 in a Chinese family and identifies a novel APTX gene mutation.
FRONTIERS IN NEUROLOGY
(2022)
Article
Multidisciplinary Sciences
Radhakrishnan Kanagaraj, Richard Mitter, Theodoros Kantidakis, Matthew M. Edwards, Anaid Benitez, Probir Chakravarty, Beiyuan Fu, Olivier Becherel, Fengtang Yang, Martin F. Lavin, Amnon Koren, Aengus Stewart, Stephen C. West
Summary: Mutations in the SETX gene are associated with progressive neurodegenerative diseases AOA2 and ALS4. Genomic and transcriptomic analysis of patient-derived cells and SETX knockout models revealed an increase in chromosomal instability, changes in gene-expression profiles, and the role of transcription stress in SETX mutationassociated chromosome fragility and AOA2.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2022)
Review
Neurosciences
Ping- Chiang, Ting-Wei Liao, Chiung-Mei Chen
Summary: This study reports the first case of AOA2/SCAN2 in Taiwan, identified through next-generation sequencing. The study found that ataxia, polyneuropathy, and elevated alpha-fetoprotein are common features of AOA2, while ocular motor apraxia varies among different populations.
Article
Neurosciences
Mahesh Kamate, Thanuja Basavanagowda
Summary: ARV1 mutations can result in developmental and epileptic encephalopathy, with a wide range of clinical manifestations including ataxia, ocular abnormalities, and elevated alpha-fetoprotein levels. These manifestations closely resemble those of ataxia telangiectasia.
Review
Gastroenterology & Hepatology
Hira Hanif, Mukarram Jamat Ali, Ammu T. Susheela, Iman Waheed Khan, Maria Alejandra Luna-Cuadros, Muzammil Muhammad Khan, Daryl Tan-Yeung Lau
Summary: Alpha-fetoprotein (AFP) is a tumor marker for hepatocellular carcinoma (HCC), but its utility is limited. However, combining AFP with other novel biomarkers can improve its accuracy. Additionally, increased AFP levels may be associated with liver diseases and other non-hepatic disorders.
WORLD JOURNAL OF GASTROENTEROLOGY
(2022)
Article
Medicine, General & Internal
Yuanxiao Wei, Ju Chen, Cancan Lu, Yijing Jiang, Zhiqiang Liu, Wenzhao Zhang, Liqun Fang
Summary: This case report describes a patient with isolated vertigo as the initial symptom, accompanied by abnormalities of the oculomotor system as the characteristic manifestations. Through a thorough physical examination and ancillary tests, along with clinical experience, the final diagnosis was multiple system atrophy. Atypical early clinical presentations can lead to diagnostic delays, necessitating the use of various ancillary examination tools.
Article
Endocrinology & Metabolism
Jitka Majovska, Igor Nestrasil, Amy Paulson, David Nascene, Katarina Jurickova, Anna Hlavata, Troy Lund, Paul J. Orchard, Manuela Vaneckova, Jiri Zeman, Martin Magner, Petr Dusek
Summary: This study characterized brain MRI findings in alpha-mannosidosis (AM) patients, showing that white matter changes and cerebellar atrophy are characteristic features. Other non-CNS abnormalities were also observed. The study did not detect previously reported decreases in T-2 signal intensity in the basal ganglia and thalami.
MOLECULAR GENETICS AND METABOLISM
(2021)
Article
Biochemistry & Molecular Biology
Romina Romaniello, Ludovica Pasca, Elena Panzeri, Fulvio D'Abrusco, Lorena Travaglini, Valentina Serpieri, Sabrina Signorini, Chiara Aiello, Enrico Bertini, Maria Teresa Bassi, Enza Maria Valente, Ginevra Zanni, Renato Borgatti, Filippo Arrigoni
Summary: Pathogenic variants in the ITPR1 gene are associated with autosomal dominant spinocerebellar ataxia. Superior vermian and hemispheric cerebellar atrophy on MRI can be a distinguishing feature of ITPR1-related disorders.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Chemistry, Analytical
Chenfang Sun, Manikkedath V. Vinayak, Shanshan Cheng, Wenping Hu
Summary: Recent advances in organic field-effect transistors (OFETs) have shown promising potential for the development of high-throughput protein biochips with improved detection performance. The simultaneous monitoring of multiple biomarkers and an optimized functionalization strategy for efficient protein immobilization are key factors in advancing OFET-based protein biochips for early cancer diagnosis.
ANALYTICAL CHEMISTRY
(2021)
Article
Chemistry, Analytical
Omer Saltuk Bolukbasi, Bahar Bankoglu Yola, Ceren Karaman, Necip Atar, Mehmet Lutfi Yola
Summary: This study successfully developed an electrochemical AFP immunosensor based on nanomaterials, which demonstrated high sensitivity and detection limit. The results showed that this sensor can be effectively used for cancer diagnosis.
Article
Biochemistry & Molecular Biology
Xiaoyu Zhao, Aonan Zhu, Yaxin Wang, Yongjun Zhang, Xiaolong Zhang
Summary: A sunflower-like nanostructure array was created in this study using colloidal lithography, with synaptic nanoparticles contributing to the primary electromagnetic field. This structure, used as a surface-enhanced Raman spectroscopy active substrate, demonstrated high repeatability and sensitivity in rapid detection of ultra-low concentrations of Alpha-fetoprotein. The design of this plasmonic structure with strong electromagnetic coupling shows promise for clinical medicine applications.
Article
Neurosciences
Susan Warren, Paul J. May
Summary: Through experiments and tracer injections, it was found that there are neural connections supporting normal eye position and activities related to eye movement during blinking. These findings reveal the complex neural mechanisms behind the blinking process.
JOURNAL OF COMPARATIVE NEUROLOGY
(2021)
Review
Biochemistry & Molecular Biology
Mikolaj Malicki, Bartosz M. Szmyd, Ernest J. Bobeff, Filip F. Karuga, Michal M. Piotrowski, Dawid Kosciolek, Sora Wanibuchi, Maciej Radek, Dariusz J. Jaskolski
Summary: The superior cerebellar artery (SCA) plays a crucial role in trigeminal neuralgia, but its anatomical variability can also cause other neurovascular compressions (NVC), including hemifacial spasm and oculomotor nerve palsy. It is also associated with ischemic syndromes and aneurysm development. Understanding the anatomical variability of SCA is important for managing patients with NVCs associated with this artery.
Article
Biochemistry & Molecular Biology
Michela Lupo, Giusy Olivito, Andrea Gragnani, Marco Saettoni, Libera Siciliano, Corinna Pancheri, Matteo Panfili, Marco Bozzali, Roberto Delle Chiaie, Maria Leggio
Summary: This study compared the patterns of cerebellar alterations in patients with bipolar disorder and those with cerebellar neurodegenerative pathologies, revealing similarities and differences in grey matter loss in the anterior and posterior cerebellar regions. The findings suggest a potential role of the cerebellum in cognitive and mood dysregulation symptoms of bipolar disorder, indicating common and different alteration patterns in specific cerebellar lobules between the two groups.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Neurosciences
Anna Nigri, Lidia Sarro, Alessia Mongelli, Anna Castaldo, Luca Porcu, Chiara Pinardi, Marina Grisoli, Stefania Ferraro, Laura Canafoglia, Elisa Visani, Maria Grazia Bruzzone, Lorenzo Nanetti, Franco Taroni, Caterina Mariotti
Summary: SCA1 is an autosomal dominant disease that can manifest in adulthood. Clinical scores and MRI measures can be valuable for monitoring and quantifying the earliest changes associated with preclinical and symptomatic phases of SCA1 disease. Both SCA1 patients and preSCA1 subjects showed signs of disease progression, with volume loss and increased clinical scores.
Article
Genetics & Heredity
Stefania Magri, Lorenzo Nanetti, Cinzia Gellera, Elisa Sarto, Elena Rizzo, Alessia Mongelli, Benedetta Ricci, Roberto Fancellu, Luisa Sambati, Pietro Cortelli, Alfredo Brusco, Maria Grazia Bruzzone, Caterina Mariotti, Daniela Di Bella, Franco Taroni
Summary: The study aimed to uncover the genetic factors underlying missing heritability in SCA17 caused by CAG/CAA repeat expansions in the TBP gene. The research revealed an unexpected genetic interaction between STUB1 and TBP, providing crucial implications for the diagnosis and counseling of SCA17.
GENETICS IN MEDICINE
(2022)
Article
Clinical Neurology
Nicole Pizzorni, Andrea Ciammola, Giovanni Casazza, Daniela Ginocchio, Federica Bianchi, Sarah Feroldi, Barbara Poletti, Lorenzo Nanetti, Caterina Mariotti, Gabriele Mora, Antonio Schindler
Summary: Older age, disease severity, increased number of masticatory cycles, and impaired swallowing safety during meals are significant predictors of malnutrition risk in patients with neurodegenerative diseases.Identifying oral phase impairment and meal difficulties early through a multidimensional swallowing assessment is crucial for preventing malnutrition.
EUROPEAN JOURNAL OF NEUROLOGY
(2022)
Correction
Clinical Neurology
Quang Tuan Remy Nguyen, Juan Dario Ortigoza Escobar, Jean-Marc Burgunder, Caterina Mariotti, Carsten Saft, Lena Elisabeth Hjermind, Katia Youssov, G. Bernhard Landwehrmeyer, Anne-Catherine Bachoud-Levi
FRONTIERS IN NEUROLOGY
(2022)
Article
Clinical Neurology
Mario Fichera, Anna Castaldo, Alessia Mongelli, Gloria Marchini, Cinzia Gellera, Lorenzo Nanetti, Caterina Mariotti
Summary: The incidence of disease-related medical conditions varies according to the duration of FA disease. In patients with long disease duration, visual and auditory pseudo-hallucinations were unexpectedly high.
NEUROLOGICAL SCIENCES
(2022)
Article
Clinical Neurology
David R. R. Lynch, Melanie P. P. Chin, Sylvia Boesch, Martin B. B. Delatycki, Paola Giunti, Angie Goldsberry, J. Chad Hoyle, Caterina Mariotti, Katherine D. D. Mathews, Wolfgang Nachbauer, Megan O'Grady, Susan Perlman, S. H. Subramony, George Wilmot, Theresa Zesiewicz, Colin J. J. Meyer
Summary: The study evaluated the safety and efficacy of omaveloxolone in patients with Friedreich's ataxia. The results showed a persistent benefit of omaveloxolone treatment on disease course in Friedreich's ataxia.
MOVEMENT DISORDERS
(2023)
Article
Multidisciplinary Sciences
Christian Hohenfeld, Ulrich Terstiege, Imis Dogan, Paola Giunti, Michael H. Parkinson, Caterina Mariotti, Lorenzo Nanetti, Mario Fichera, Alexandra Durr, Claire Ewenczyk, Sylvia Boesch, Wolfgang Nachbauer, Thomas Klopstock, Claudia Stendel, Francisco Javier Rodriguez de Rivera Garrido, Ludger Schoels, Stefanie N. Hayer, Thomas Klockgether, Ilaria Giordano, Claire Didszun, Myriam Rai, Massimo Pandolfo, Holger Rauhut, Joerg B. Schulz, Kathrin Reetz
Summary: We investigated the possibility of predicting the disease severity of Friedreich ataxia using clinical examination data. We used various modelling techniques and identified certain clinical features that can be predicted with reasonable error. However, there are still targets that are difficult to predict, raising questions about unknown variables affecting the clinical phenotype of FRDA.
SCIENTIFIC REPORTS
(2022)
Review
Oncology
Martina Catalano, Daniele Generali, Marta Gatti, Barbara Riboli, Leda Paganini, Gabriella Nesi, Giandomenico Roviello
Summary: Deleterious aberrations in DNA repair genes are actionable in approximately 25% of metastatic castration-resistant prostate cancers (mCRPC) patients. Homology recombination repair (HRR) is frequently altered in prostate cancer, particularly BRCA2 gene. Poly ADP-ribose polymerase inhibitors have shown antitumor activity and improved overall survival in mCRPC patients with somatic and/or germline alterations of HHR. However, the clinical use of liquid biopsy in prostate cancer compared to blood and tissue testing is currently very limited.
FRONTIERS IN ONCOLOGY
(2023)
Article
Genetics & Heredity
Paulina Cunha, Emilien Petit, Marie Coutelier, Giulia Coarelli, Caterina Mariotti, Jennifer Faber, Judith Van Gaalen, Joana Damasio, Zofia Fleszar, Michele Tosi, Clarissa Rocca, Giovanna De Michele, Martina Minnerop, Claire Ewenczyk, Filippo M. Santorelli, Anna Heinzmann, Thomas Bird, Matthias Amprosi, Elisabetta Indelicato, Alberto Benussi, Perrine Charles, Claudia Stendel, Silvia Romano, Marina Scarlato, Isabelle Le Ber, Maria Teresa Bassi, Mercedes Serrano, Tanja Schmitz-Hubsch, Sarah Doss, Gijs A. J. Van Velzen, Quentin Thomas, Antonio Trabacca, Juan Dario Ortigoza-Escobar, Stefano D'Arrigo, Dagmar Timmann, Chiara Pantaleoni, Andrea Martinuzzi, Elsa Besse-Pinot, Luca Marsili, Ettore Cioffi, Francesco Nicita, Alejandro Giorgetti, Isabella Moroni, Romina Romaniello, Carlo Casali, Penina Ponger, Giorgio Casari, Susanne T. De Bot, Giovanni Ristori, Lubov Blumkin, Barbara Borroni, Cyril Goizet, Cecilia Marelli, Sylvia Boesch, Mathieu Anheim, Alessandro Filla, Henry Houlden, Enrico Bertini, Thomas Klopstock, Matthis Synofzik, Florence Riant, Ginevra Zanni, Stefania Magri, Daniela Di Bella, Lorenzo Nanetti, Jorge Sequeiros, Jorge Oliveira, Bart Van de Warrenburg, Ludger Schoels, Franco Taroni, Alexis Brice, Alexandra Durr
Summary: Although most spinocerebellar ataxias (SCAs) are caused by triplet repeat expansions, there are many SCAs that are not. This study screened individuals with variants in non-expansion SCA-associated genes and identified 756 subjects with single-nucleotide variants or deletions in seven different genes. Comparison of disease features and progression revealed no reliable distinguishing factors between these SCAs, and certain genes were associated with both adult-onset and infantile-onset forms of the disease. However, the overall progression of the disease was slow, with STUB1-associated disease progressing the fastest. Variants in CACNA1A showed wide ranges in age at onset, and the type of variant and protein charge change greatly affected the phenotype.
AMERICAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Clinical Neurology
Lorenzo Nanetti, Stefania Magri, Mario Fichera, Anna Castaldo, Anna Nigri, Chiara Pinardi, Alessia Mongelli, Lidia Sarro, Davide Pareyson, Marina Grisoli, Cinzia Gellera, Daniela Di Bella, Caterina Mariotti, Franco Taroni
Summary: This study identified a form of spinocerebellar ataxia (SCA) characterized by the presence of an intermediate-length expansion in the TATA-box binding protein gene (TBP40-46) and a pathogenic variant in the Stip1-homologous and U-Box containing protein 1 gene (STUB1), representing the first example of digenic inheritance in a cerebellar disorder. Patients with SCA(TBP/STUB1) exhibited multi-domain dementia and more severe impairment compared to those carrying only fully expanded SCA17 alleles. Neuroimaging analysis revealed reduced cerebellar volume and thickness in SCA(TBP/STUB1) patients, as well as basal ganglia volume reduction in both patient groups. The findings have implications for diagnosis and genetic counseling in families with hereditary and sporadic ataxia.
MOVEMENT DISORDERS
(2023)
Article
Clinical Neurology
Anna Castaldo, Mariangela Farinotti, Mario Fichera, Lorenzo Nanetti, Filippo Fortuna, Caterina Mariotti, Alessandra Solari
Summary: This study translated and culturally adapted the PROM-Ataxia questionnaire into Italian and conducted cognitive interviews. Italian patients found the questionnaire to be complete, but identified some redundant or ambiguous items. The translation and cultural adaptation are necessary for the subsequent psychometric validation of the scale.
NEUROLOGICAL SCIENCES
(2023)
Article
Clinical Neurology
Andrea Horta-Barba, Saul Martinez-Horta, Jesus Perez-Perez, Arnau Puig-Davi, Natascia de Lucia, Giuseppe de Michele, Elena Salvatore, Stefanie Kehrer, Josef Priller, Simone Migliore, Ferdinando Squitieri, Anna Castaldo, Caterina Mariotti, Veronica Mananes, Jose Luis Lopez-Sendon, Noelia Rodriguez, Asuncion Martinez-Descals, Filipa Julio, Cristina Januario, Marianna Delussi, Marina de Tommaso, Sandra Noguera, Jesus J. Ruiz-Idiago, Emilia Sitek, Renata Wallner, Angela Nuzzi, Javier Pagonabarraga, Jaime Kulisevsky
Summary: This study developed a specific assessment tool, the Parkinson's Disease-Cognitive Rating Scale (PD-CRS), to evaluate the cognitive status of Huntington's disease patients and monitor the progression of cognitive impairment. Through evaluating 180 gene-positive patients, criteria for classifying normal cognition, mild cognitive impairment, and dementia were established, and the PD-CRS demonstrated good sensitivity and specificity. Additionally, the PD-CRS captured cognitive progression in different cognitive groups and showed sensitivity to change in mild cognitive impairment and dementia.
JOURNAL OF NEUROLOGY
(2023)
Meeting Abstract
Biochemistry & Molecular Biology
Daniela Di Bella, Stefania Magri, Elisa Sarto, Marinella Corbetta, Maria Balzo, Cinzia Gellera, Chiara Pisciotta, Ettore Salsano, Davide Pareyson, Mario Fichera, Lorenzo Nanetti, Caterina Mariotti, Franco Taroni
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Meeting Abstract
Biochemistry & Molecular Biology
Stefania Magri, Lorenzo Nanetti, Cinzia Gellera, Elisa Sarto, Maria Balzo, Elena Rizzo, Alessia Mongelli, Alfredo Brusco, Caterina Mariotti, Daniela Di Bella, Franco Taroni
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Psychology, Developmental
Silvia Annunziata, Sara Bulgheroni, Stefano D'Arrigo, Silvia Esposito, Matilde Taddei, Veronica Saletti, Enrico Alfei, Francesca Luisa Sciacca, Ambra Rizzo, Chiara Pantaleoni, Daria Riva
Summary: Autism spectrum disorder (ASD) is a neurodevelopmental condition with a strong genetic basis. This study found that complex ASD patients have a higher frequency of pathogenic genetic mutations, highlighting the importance of detailed phenotypic characterization in ASD diagnosis and research.
JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
(2023)