Article
Clinical Neurology
Tomokatsu Yoshida, Ikuko Mizuta, Rei Yasuda, Toshiki Mizuno
Summary: Older-adult-onset Alexander disease cases with an onset age of 65 years or older showed typical neurological and MRI features of bulbospinal ALXDRD, with more severe disease progression compared to younger-adult-onset cases and development of dependence within 2 years from onset. Cerebral white matter damage tended to progress in proportion to the duration of illness.
EUROPEAN JOURNAL OF NEUROLOGY
(2021)
Article
Genetics & Heredity
Tsepo Goerttler, Letizia Zanetti, Maria Regoni, Karl Egger, Elias Kellner, Cornelius Deuschl, Christoph Kleinschnitz, Jenny Sassone, Stephan Klebe
Summary: In this case study, a new GFAP gene mutation causing adult-onset Alexander disease (AOAD) was identified. It is recommended to include AOAD in the diagnostic workup for adult patients with gait ataxia and cerebellar and bulbar symptoms in association with traumatic head injury.
NEUROLOGY-GENETICS
(2022)
Article
Pediatrics
Safoura Zardadi, Ehsan Razmara, Maryam Rasoulinezhad, Meisam Babaei, Mohammad Reza Ashrafi, Neda Pak, Masoud Garshasbi, Ali Reza Tavasoli
Summary: This study identifies a potential genetic cause for the manifestations of Alexander disease type II in a 9-year-old male. The patient's symptoms, including vomiting and weight loss, were improved with prednisolone treatment.
Article
Endocrinology & Metabolism
Eleonora Mura, Francesco Nicita, Silvia Masnada, Roberta Battini, Chiara Ticci, Martino Montomoli, Angela Berardinelli, Chiara Pantaleoni, Anna Ardissone, Thomas Foiadelli, Elena Tartara, Ettore Salsano, Pierangelo Veggiotti, Isabella Ceccherini, Isabella Moroni, Enrico Bertini, Davide Tonduti
Summary: Alexander disease (AxD) is a leukodystrophy predominantly affecting astrocytes due to dominant variants in the Glial Fibrillary Acidic Protein gene. This study retrospectively included 21 Italian patients with genetically confirmed pediatric-onset AxD, categorizing them into different types based on current classification systems. Results suggest that AxD patients exhibit varying clinical features at onset, potentially allowing for classification into different subgroups based on disease progression trajectories.
MOLECULAR GENETICS AND METABOLISM
(2021)
Article
Medicine, Research & Experimental
Katayoun Heshmatzad, Niloofar Naderi, Tannaz Masoumi, Hamidreza Pouraliakbar, Samira Kalayinia
Summary: This study reports a novel variant causing infantile AxD and collects all the associated variants with juvenile and adult-onset types. Clinical and genetic data of a 2-year-old female patient were evaluated, and a literature search was conducted to include all AxD types. The study highlights the role of genetics in diagnosing AxD and expands the genetic spectrum of Iranian patients with AxD, providing a better understanding of the genotype-phenotype correlation of AxD disorder.
EUROPEAN JOURNAL OF MEDICAL RESEARCH
(2022)
Article
Ophthalmology
S. U. S. H. M. I. T. A. Kaushik, S. A. N. D. E. E. P. Choudhary, A. N. U. P. R. I. Y. A. Kaur, P. R. I. Y. A. N. K. A. Srivastava, B. I. K. R. A. N. T. Pokharel, M. A. D. H. U. R. Akella, Surinder Singh Pandav
Summary: This study reports the underlying genetic variants of a newly described distinct phenotype of newborn glaucoma called neonatal-onset congenital ectropion uveae (NO-CEU). Through clinical exome sequencing of 13 children with NO-CEU, the study identified CYP1B1 variants associated with the phenotype. The findings also showed that different genotypes have an impact on ocular manifestations and visual outcomes in these patients.
AMERICAN JOURNAL OF OPHTHALMOLOGY
(2022)
Article
Clinical Neurology
Katayoun Heshmatzad, Mahya Haghi Panah, Ali Reza Tavasoli, Mahmoud Reza Ashrafi, Nejat Mahdieh, Bahareh Rabbani
Summary: This study conducted a comprehensive analysis of Infantile AxD caused by GFAP mutations, highlighting that seizure is the most common clinical symptom, with most variants located in specific domains of the protein, and four common variants responsible for nearly half of the patients.
CLINICAL NEUROLOGY AND NEUROSURGERY
(2021)
Article
Genetics & Heredity
Saar Anis, Tsvia Fay-Karmon, Simon Lassman, Fadi Shbat, Orit Lesman-Segev, Nofar Mor, Ortal Barel, Dan Dominissini, Odelia Chorin, Elon Pras, Lior Greenbaum, Sharon Hassin-Baer
Summary: Alexander disease is a rare autosomal dominant leukodystrophy caused by mutations in the GFAP gene. This study presents a series of patients with adult-onset AxD of Jewish Syrian descent. The clinical characteristics included bulbar and gait disturbances, pyramidal and cerebellar impairment, dysautonomia, and cognitive decline. Imaging findings showed spinal atrophy and white matter hyperintensities. This disorder should be considered in differential diagnosis and genetic counseling is important for family planning.
Article
Neurosciences
Hedieh Arshiany, Behzad Ezzatian, Valentin Artounian, Fatemeh Alizadeh, Fatemeh Mohammadian
Summary: This study described a case of late onset Alexander disease with psychiatric symptoms in a patient with a novel large Exon deletion in the GFAP gene.
BASIC AND CLINICAL NEUROSCIENCE
(2022)
Article
Biochemistry & Molecular Biology
Zhichao Li, Xiaosen Jiang, Mingyan Fang, Yong Bai, Siyang Liu, Shujia Huang, Xin Jin
Summary: The Chinese Millionome Database (CMDB) is a database that contains low-coverage whole-genome sequencing (WGS) data from 141,431 unrelated healthy Chinese individuals, covering 9.04 million single nucleotide variants (SNV) with allele frequency information. The CMDB is the most representative and comprehensive Chinese population genome database to date, housing data from a multi-ethnic Chinese population with wide geographical distribution.
NUCLEIC ACIDS RESEARCH
(2023)
Article
Genetics & Heredity
Mariateresa Di Stazio, Caterina Zanus, Flavio Faletra, Alessia Pesaresi, Ilaria Ziccardi, Anna Morgan, Giorgia Girotto, Paola Costa, Marco Carrozzi, Adamo P. d'Adamo, Luciana Musante
Summary: CSNK2B encodes the regulatory subunit of casein kinase II, which is involved in brain development and function. De novo mutations in CSNK2B have been linked to neurodevelopmental disorders, including seizures and intellectual disability. This study investigates the functional impact of two CSNK2B mutations and suggests a continuous spectrum of CSNK2B-associated phenotypes.
Article
Multidisciplinary Sciences
Marta Truffi, Maria Garofalo, Alessandra Ricciardi, Matteo Cotta Ramusino, Giulia Perini, Silvia Scaranzin, Matteo Gastaldi, Sara Albasini, Alfredo Costa, Viola Chiavetta, Fabio Corsi, Carlo Morasso, Stella Gagliardi
Summary: Neurofilament light chains (NfL), neuron-specific cytoskeletal proteins, have been explored as a useful marker in various types of dementia. The plasma levels of NfL were studied using SiMoA and Ella platforms, which showed a correlation and potential for neurodegeneration diagnosis.
SCIENTIFIC REPORTS
(2023)
Article
Multidisciplinary Sciences
Sara Bernini, Alessia Gerbasi, Silvia Panzarasa, Silvana Quaglini, Matteo Cotta Ramusino, Alfredo Costa, Micol Avenali, Cristina Tassorelli, Tomaso Vecchi, Sara Bottiroli
Summary: The present study aimed to identify clusters of cognitive profiles and explore their effects on demographic/individual characteristics and improvements after computer-based cognitive training (CCT) in early cognitive impairment. Two clusters were revealed, with Cluster 1 characterized by lower cognitive functioning and Cluster 2 characterized by higher cognitive functioning. After CCT, Cluster 1 showed more improvement in global cognitive functioning at 3 months, but had pronounced worsening at 12 months, while Cluster 2 remained stable. These findings have important implications for informing the timing and modality of CCT delivery.
SCIENTIFIC REPORTS
(2023)
Article
Chemistry, Multidisciplinary
Martina Zambito, Federica Viti, Alessia G. Bosio, Isabella Ceccherini, Tullio Florio, Massimo Vassalli
Summary: The evaluation of cell elasticity is important due to its impact on physiological and pathological processes. However, single-cell mechanical measurements often vary due to instrumental errors and the nature of the sample. In this study, the authors used a nanoindenter to characterize the experimental procedure and found that technical replicates had minimal influence, but biological conditions significantly affected the results. Experiments should be designed carefully to minimize inhomogeneous scenarios and avoid divergences in measured phenotype.
Article
Medicine, General & Internal
Sara Bernini, Silvia Panzarasa, Silvana Quaglini, Alfredo Costa, Marta Picascia, Stefano F. F. Cappa, Chiara Cerami, Cristina Tassorelli, Tomaso Vecchi, Sara Bottiroli
Summary: The present study aimed to assess the usability and user experience of HomeCoRe system in individuals at risk of dementia and their family members, and to evaluate the association between technological skills and main outcome measures. The results showed satisfactory usability and user experience of HomeCoRe, which were independent of technological skills.
FRONTIERS IN MEDICINE
(2023)
Article
Biology
Francesca Crudele, Nicoletta Bianchi, Anna Terrazzan, Pietro Ancona, Antonio Frassoldati, Paolo Gasparini, Adamo P. D'Adamo, Dimitrios Papaioannou, Ramiro Garzon, Anna Wojcicka, Pawel Gaj, Krystian Jazdzewski, Jeffrey Palatini, Stefano Volinia
Summary: In this study, we investigated the function of human genes encoding circular RNAs (circRNAs), which are still a topic of debate. We identified 183 genes that encode circRNAs and found that they are differentially expressed in cancer tissues, suggesting a potential role in cancer. These circRNAs may contribute to cellular and systemic processes by generating novel proteins.
Article
Biochemistry & Molecular Biology
Mirko Baglivo, Alessia Nasca, Eleonora Lamantea, Stefano Vinci, Manuela Spagnolo, Silvia Marchet, Holger Prokisch, Alessia Catania, Costanza Lamperti, Daniele Ghezzi
Summary: Leber's hereditary optic neuropathy (LHON) is a disease that causes visual loss due to damage to the optical nerve. In this study, the respiratory parameters of LHON patients' fibroblasts were evaluated, revealing reduced respiration in untreated conditions and no significant improvement after idebenone supplementation. The responsiveness of cultured cells to idebenone treatment did not fully reflect in vivo data, indicating the need for further evaluation of cellular respiration as a potential biomarker for LHON prognosis and treatment response.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Clinical Neurology
Ilaria Bacigalupo, Francesco Giaquinto, Emanuela Salvi, Giulia Carnevale, Roberta Vaccaro, Fabio Matascioli, Giulia Remoli, Nicola Vanacore, Patrizia Lorenzini
Summary: A national survey was conducted in Italy to provide a comprehensive description of the characteristics, organizational aspects, and experiences during the COVID-19 pandemic of the Centers for Cognitive Disorders and Dementias (CCDDs). The survey revealed considerable heterogeneity in the CCDDs in Italy and a modest improvement in their functioning, although more efforts are still needed to ensure the diagnosis and care of patients with dementia.
NEUROLOGICAL SCIENCES
(2023)
Article
Geriatrics & Gerontology
Anita Monteverdi, Fulvia Palesi, Michael Schirner, Francesca Argentino, Mariateresa Merante, Alberto Redolfi, Francesca Conca, Laura Mazzocchi, Stefano F. F. Cappa, Matteo Cotta Ramusino, Alfredo Costa, Anna Pichiecchio, Lisa M. M. Farina, Viktor Jirsa, Petra Ritter, Claudia A. M. Gandini Wheeler-Kingshott, Egidio D'Angelo
Summary: The Virtual Brain (TVB) modeling using structural and functional magnetic resonance imaging (MRI) can simulate brain networks in patients with Alzheimer's disease (AD) and frontotemporal dementia (FTD), revealing disease-specific alterations and correlations with individual profiles. These simulations provide new insights into dementia mechanisms and personalized therapeutic approaches.
FRONTIERS IN AGING NEUROSCIENCE
(2023)
Article
Geriatrics & Gerontology
Roberto Aquilani, Matteo Cotta Ramusino, Roberto Maestri, Paolo Iadarola, Mirella Boselli, Giulia Perini, Federica Boschi, Maurizia Dossena, Anna Bellini, Daniela Buonocore, Enrico Doria, Alfredo Costa, Manuela Verri
Summary: This study aimed to investigate the changes in neurotransmitter synthesis, energy production, and oxidative stress in different dementia subtypes and MCI. The results showed that demented patients and MCI subjects exhibited reductions in amino acid precursors of neurotransmitter synthesis, impairment in energy production, and an increase in oxidative stress. These metabolic alterations may negatively affect synaptic plasticity and activity.
FRONTIERS IN AGING NEUROSCIENCE
(2023)
Article
Genetics & Heredity
Federica Invernizzi, Rossella Izzo, Isabel Colangelo, Andrea Legati, Nadia Zanetti, Barbara Garavaglia, Eleonora Lamantea, Lorenzo Peverelli, Anna Ardissone, Isabella Moroni, Lorenzo Maggi, Silvia Bonanno, Laura Fiori, Daniele Velardo, Francesca Magri, Giacomo P. Comi, Dario Ronchi, Daniele Ghezzi, Costanza Lamperti
Summary: This study aimed to investigate the possible genetic causes of recurrent hyperCKemia or clinical suspicion of inherited metabolic myopathy. A cohort of 139 patients was analyzed and a genetic diagnosis was obtained in 15.1% of cases, while candidate variants or variants of uncertain significance were found in a further 39.5%. The results confirmed the high genetic heterogeneity of hyperCKemia and metabolic myopathies, suggesting the existence of additional genes associated with this condition and the possibility of cases being caused by extrinsic factors.
Article
Medicine, General & Internal
Federica Pederiva, Steven S. Rothenberg, Nigel Hall, Hanneke Ijsselstijn, Kenneth K. Y. Wong, Jan von der Thuesen, Pierluigi Ciet, Reuven Achiron, Adamo Pio d'Adamo, J. Marco Schnater
Summary: This article introduces the etiology, diagnosis, and treatment of congenital lung malformations (CLMs), and focuses on the impact of this disease on patients' quality of life.
NATURE REVIEWS DISEASE PRIMERS
(2023)
Article
Clinical Neurology
Alberto A. Zambon, Daniele Ghezzi, Cristina Baldoli, Gianni Cutillo, Katia Fontana, Valentina Sofia, Maria Grazia Patricelli, Alessia Nasca, Stefano Vinci, Ivana Spiga, Eleonora Lamantea, Giovanna F. Fanelli, Maria Grazia Natali Sora, Rosanna Rovelli, Antonella Poloniato, Paola Carrera, Massimo Filippi, Graziano Barera
Summary: This study presents a novel phenotype associated with AIFM1 and reviews the existing literature on AIFM1-related disorders. Through various tests and studies, a pathogenic variant in the AIFM1 gene was identified and its effects on cellular function were observed. The patient exhibited drug-resistant, electro-clinical, multifocal seizures shortly after birth, and brain MRI revealed brain swelling and signal alteration in specific areas. Functional studies on cultured fibroblasts showed a reduction in AIFM1 protein amount and defective activities of respiratory chain complexes.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
(2023)
Article
Psychology, Multidisciplinary
Sara Bernini, Elena Ballante, Federico Fassio, Silvia Panzarasa, Silvana Quaglini, Chiara Riccietti, Alfredo Costa, Stefano F. Cappa, Cristina Tassorelli, Tomaso Vecchi, Sara Bottiroli
Summary: The study aimed to identify factors influencing preference for either cognitive telerehabilitation (TR) or in-person cognitive training (CT) programs in older adults with risk of dementia or early cognitive impairment. The results suggest that socio-demographic characteristics and lifestyle habits play a significant role in influencing treatment preferences.
FRONTIERS IN PSYCHOLOGY
(2023)