Article
Nutrition & Dietetics
Jana Ruiz Herrero, Elvira Canedo Villarroya, Luis Gonzalez Gutierrez-Solana, Beatriz Garcia Alcolea, Begona Gomez Fernandez, Laura Andrea Puerta Macfarland, Consuelo Pedron-Giner
Summary: The study found that CKD and MAD were effective for both SLC2A1 positive and negative patients in treating GLUT1DS. Although side effects were frequent, they were mild, and long-term monitoring is necessary to identify and manage nutritional deficits and side effects.
Review
Nutrition & Dietetics
Kaleem Imdad, Turki Abualait, Ammara Kanwal, Ziyad Tareq AlGhannam, Shahab Bashir, Anum Farrukh, Sahir Hameed Khattak, Raidah Albaradie, Shahid Bashir
Summary: This article discusses the role of the ketogenic diet (KD) in the treatment of epilepsy, suggesting that ketone bodies can regulate neuronal metabolic activities, decrease seizure rate, and have significant therapeutic effects on epilepsy and related metabolic disorders.
Article
Genetics & Heredity
Tugce Bozkurt, Yasemin Alanay, Ugur Isik, Ugur Sezerman
Summary: The study presented a case of a girl with GLUT1DS1, who showed symptoms including global developmental delay, spasticity, intellectual disability, dysarthric speech, abnormal eye movements, and hemangioma. A novel de novo variant in the SLC2A1 gene was identified through genetic testing and reverse phenotyping analysis, leading to the confirmation of the diagnosis and initiation of ketogenic diet treatment.
BMC MEDICAL GENOMICS
(2021)
Article
Nutrition & Dietetics
Ramona De Amicis, Alessandro Leone, Marta Pellizzari, Andrea Foppiani, Alberto Battezzati, Chiara Lessa, Anna Tagliabue, Cinzia Ferraris, Valentina De Giorgis, Sara Olivotto, Roberto Previtali, Pierangelo Veggiotti, Simona Bertoli
Summary: This study evaluated the long-term effects of a 5-year classic ketogenic diet (cKD) on body composition, resting energy expenditure, and biochemical parameters in children with Glucose Transporter 1 Deficiency Syndrome (GLUT1DS). The results showed that long-term adherence to cKD had no significant adverse effects on body composition, resting energy expenditure, and biochemical parameters in children and adolescents.
FRONTIERS IN NUTRITION
(2023)
Review
Oncology
Thomas N. Seyfried, Gabriel Arismendi-Morillo, Giulio Zuccoli, Derek C. Lee, Tomas Duraj, Ahmed M. Elsakka, Joseph C. Maroon, Purna Mukherjee, Linh Ta, Laura Shelton, Dominic D'Agostino, Michael Kiebish, Christos Chinopoutos
Summary: Glioblastoma relies on fermentation metabolism for energy and biomass synthesis, contributing to an acidified microenvironment and drug resistance. Treatment methods for GBM can further acidify the microenvironment, but restricting glucose and glutamine while increasing non-fermentable ketone bodies may provide a non-toxic therapeutic strategy.
FRONTIERS IN ONCOLOGY
(2022)
Article
Food Science & Technology
Lenycia de Cassya Lopes Neri, Monica Guglielmetti, Valentina De Giorgis, Ludovica Pasca, Martina Paola Zanaboni, Claudia Trentani, Elena Ballante, Serena Grumi, Cinzia Ferraris, Anna Tagliabue, KDTs Delphi Validation Study Grp
Summary: This study adapted and validated the Brazilian adherence questionnaire iKetoCheck into the Italian version for evaluating the adherence to ketogenic dietary therapies in Italian drug-resistant epilepsy or GLUT1 deficiency patients. The iKetoCheck is a valid tool consisting of 10 questions that assess various aspects of adherence. It can provide valuable information to improve patient management and optimize the effectiveness of ketogenic dietary therapies.
Article
Multidisciplinary Sciences
Ignacio Malaga, Adrian Avila, Sharon Primeaux, Raja Reddy Kallem, Charles R. Roe, William C. Putnam, Jason Y. Park, Shlomo Shinnar, Chul Ahn, Juan M. Pascual
Summary: Augmentation of anaplerosis is beneficial in energy metabolism defects. Triheptanoin is anaplerotic and can be used to treat Glucose transporter type 1 deficiency encephalopathy (G1D). A maximum tolerated dose of 45% of daily caloric intake was established for different age groups. Safety and ketonemic potential were determined through blood measures. These results provide dosing and initial safety information for the clinical investigation of triheptanoin in G1D.
SCIENTIFIC REPORTS
(2023)
Review
Endocrinology & Metabolism
Valentina Spigoni, Gloria Cinquegrani, Nicolas Thomas Iannozzi, Giulia Frigeri, Giulia Maggiolo, Marta Maggi, Vanessa Parello, Alessandra Dei Cas
Summary: Ketogenesis occurs in the mitochondria of hepatocytes, where acetyl-CoA derived from fatty acid breakdown is converted into ketone bodies. Ketone bodies serve as important alternative energy sources during metabolic stress. Ketogenic diets are low-carbohydrate, high-fat eating strategies that have shown significant efficacy in weight loss and are widely recommended for various metabolic disorders. Recent studies have discovered that ketone bodies act as ligands for G protein-coupled receptors (GPCRs), which play a role in a wide range of bodily functions. This has sparked interest in understanding whether the clinical effects of ketogenic diets are mediated by the ketone/GPCR axis.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Review
Nutrition & Dietetics
Valeria Calcaterra, Elvira Verduci, Martina Chiara Pascuzzi, Vittoria Carlotta Magenes, Giulia Fiore, Elisabetta Di Profio, Elisavietta Tenuta, Alessandra Bosetti, Carolina Federica Todisco, Enza D'Auria, Gianvincenzo Zuccotti
Summary: Obesity is characterized by excessive fat accumulation and has negative health consequences. In children, obesity is associated with an increased risk for diseases such as type 2 diabetes and cardiovascular events. The ketogenic diet has been proposed as a promising intervention for addressing metabolic and cardiovascular risk factors related to obesity.
Article
Clinical Neurology
Miaomiao Yu, Jing Miao, Yudan Lv, Xue Wang, Wuqiong Zhang, Na Shao, Hongmei Meng
Summary: Glucose transporter type 1 deficiency syndrome (Glut1-DS) is a rare neurometabolic disorder caused by mutations of the SLC2A1 gene. Paroxysmal exercise-induced dyskinesia is a representative symptom of Glut1-DS. In addition to intracranial infection, Glut1-DS should be considered as a differential diagnosis in cases with low cerebrospinal fluid glucose concentration and dyskinesia to avoid misdiagnosis.
FRONTIERS IN NEUROLOGY
(2021)
Article
Food Science & Technology
Jakssuel Sebastion Dantas Alves, Raul Manhaes de-Castro, Henrique Jose Cavalcanti Bezerra, Barbara Joacy Rodrigues Costa de-Santana, Elizabeth do Nascimento, Yohanna de Oliveira, Jade Morais Alves, Jose Luiz de Brito Alves, Marciane Magnani, Ana Elisa Toscano, Giselia de Santana Muniz
Summary: This study evaluated the effects of a ketogenic diet with high saturated fat content during lactation on biochemical outcomes and fecal bacterial groups in dams and offspring. The results showed that the diet increased fat deposition, impaired fecal microbial counts in dams, and induced adverse effects on lipid profile and fecal microbial counts in offspring.
Article
Nutrition & Dietetics
Manal Abdulaziz Binobead, Azhar Hamad Aldakhilallah, Sahar Abdulaziz Alsedairy, Laila Naif Al-Harbi, Wahidah H. Al-Qahtani, Ghedeir M. Alshammari
Summary: This study investigated the effects of a ketogenic diet on anthropometric indices, lipid profile, and the inhibition of NLRP3 inflammasome in obese women. The results showed that the ketogenic diet led to significant weight loss, reduced waist circumference and BHB levels, and decreased BMI and appetite. Cholesterol, triglycerides, and HDL-C slightly increased, while LDL-C and 1L-1 beta decreased significantly. The questionnaire results indicated improvements in various physical symptoms.
Article
Nutrition & Dietetics
Ulrike Kaemmerer, Rainer J. Klement, Fabian T. Joos, Marc Suetterlin, Monika Reuss-Borst
Summary: Both ketogenic diets and low carb diets are safe and beneficial for breast cancer patients during the rehabilitation phase, improving quality of life, body composition, and physical performance. Low carb diet participants showed the most significant improvement in quality of life aspects.
Article
Nutrition & Dietetics
Chunlong Mu, Angela Pochakom, Raylene A. Reimer, Anamika Choudhary, Melinda Wang, Jong M. Rho, Morris H. Scantlebury, Jane Shearer
Summary: The ketogenic diet is an effective treatment for infantile spasms syndrome. This study investigated the effect of adding a prebiotic fiber to the diet, and found that it improved metabolic parameters and gut microbiota diversity. However, it had no impact on spasms or developmental outcomes.
Article
Obstetrics & Gynecology
Emma G. Whatley, Thi T. Truong, Alexandra J. Harvey, David K. Gardner
Summary: Research question: Does the ketone acetoacetate (AcAc) alone, or combined with 13-hydroxybutyrate (13OHB), impact mouse embryo development, metabolism, histone acetylation and viability? The study found that exposure to high levels of ketone acetoacetate and 13-hydroxybutyrate affects metabolism and histone acetylation in embryos, and leads to abnormal fetal development.
REPRODUCTIVE BIOMEDICINE ONLINE
(2023)
Review
Hematology
Giovanni Di Minno, Giancarlo Castaman, Raimondo De Cristofaro, Nicola Brunetti-Pierri, Lucio Pastore, Giuseppe Castaldo, Ugo Trama, Matteo Di Minno
Summary: In individuals with severe hemophilia A, regular infusions of extended half-life factor VIII products or subcutaneous injections emicizumab are effective home treatments. Similarly, infusions of extended half-life factor IX products are recommended for individuals with severe hemophilia B. Gene therapy, currently being developed, offers a potential cure for hemophilia by correcting the hemostatic defect and providing sustained expression of clotting factors.
Letter
Clinical Neurology
Marcello Scala, Elisa De Grandis, Giulia Nobile, Michele Iacomino, Francesca Madia, Valeria Capra, Lino Nobili, Federico Zara, Pasquale Striano
Article
Clinical Neurology
Emanuele Cerulli Irelli, Enrico Cocchi, Georgia Ramantani, Antonella Riva, Roberto Horacio Caraballo, Alessandra Morano, Loretta Giuliano, Tulay Yilmaz, Eleni Panagiotakaki, Francesca F. Operto, Beatriz Gonzalez Giraldez, Simona Balestrini, Katri Silvennoinen, Sara Casciato, Marion Comajuan, Francesco Fortunato, Anna Teresa Giallonardo, Rimma Gamirova, Antonietta Coppola, Giancarlo Di Gennaro, Angelo Labate, Vito Sofia, Gerhard Josef Kluger, Antonio Gambardella, Dorothee G. A. Kasteleijn-NolstTrenite, Betul Baykan, Sanjay M. Sisodiya, Alexis Arzimanoglou, Pasquale Striano, Carlo Di Bonaventura
Summary: Based on age at epilepsy onset (AEO), this study identified three subtypes of objective epilepsy with eyelid myoclonia (EEM) and analyzed their distinct clinical features. Early onset EEM was associated with higher rates of intellectual disability, antiseizure medication refractoriness, and psychiatric comorbidities, while late onset EEM had the highest proportion of myoclonia involving body regions other than eyelids and generalized tonic-clonic seizures. Intermediate onset EEM had the lowest observed rate of additional findings. Family history of EEM was more frequent in the subtypes with intermediate and late onset. Patients with body-MYO showed higher rates of migraine and generalized tonic-clonic seizures.
Article
Clinical Neurology
Vincenzo Salpietro, Valentina Galassi Deforie, Stephanie Efthymiou, Emer O'Connor, Anna Marce-Grau, Reza Maroofian, Pasquale Striano, Federico Zara, Michelle M. Morrow, Adi Reich, Amy Blevins, Julia Sala-Coromina, Andrea Accogli, Sara Fortuna, Marie Alesandrini, P. Y. Billie Au, Nilika Shah Singhal, Benjamin Cogne, Bertrand Isidor, Michael G. Hanna, Alfons Macaya, Dimitri M. Kullmann, Henry Houlden, Roope Mannikko
Summary: Novel mutations in KCNA6 gene were found to be associated with early infantile epileptic phenotypes and neurodevelopmental anomalies. Functional characterization revealed that these mutations affect channel closure and voltage dependence. This study is the first to report the association between de novo variants in KCNA6 and neurological features.
Article
Medicine, Research & Experimental
Lars Schlotawa, Karolina Tyka, Matthias Kettwig, Rebecca C. Ahrens-Nicklas, Matthias Baud, Tea Berulava, Nicola Brunetti-Pierri, Alyssa Gagne, Zackary M. Herbst, Jean A. Maguire, Jlenia Monfregula, Tonatiuh Pena, Karthikeyan Radhakrishnan, Sophie Schroeder, Elisa A. Waxman, Andrea Ballabio, Thomas Dierks, Andre Fischer, Deborah L. French, Michael H. Gelb, Jutta Gaertner
Summary: Multiple sulfatase deficiency (MSD) is caused by pathogenic variants in the SUMF1 gene, leading to dysfunction of the formylglycine-generating enzyme (FGE). Therapeutic options for MSD are limited, but treatment with retinoids tazarotene and bexarotene showed promising results in restoring sulfatase activities and normalizing lysosomal position and size. In addition, these retinoids increased stability of FGE variants, suggesting a potential therapeutic option for MSD patients using these drugs.
EMBO MOLECULAR MEDICINE
(2023)
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
Biochemistry & Molecular Biology
Gianluca D'Onofrio, Marcello Scala, Mariasavina Severino, Roberta Roberti, Ferruccio Romano, Patrizia De Marco, Michele Iacomino, Simona Baldassari, Paolo Uva, Marco Pavanello, Stefano Gustincich, Pasquale Striano, Federico Zara, Valeria Capra
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Review
Clinical Neurology
Gianluca Dini, Giovanni Battista Dell'isola, Elisabetta Mencaroni, Pietro Ferrara, Giuseppe Di Cara, Pasquale Striano, Alberto Verrotti
Summary: Despite advances in neuroimaging and genetics, electroencephalography (EEG) remains important for epilepsy diagnosis and management. Pharmaco-EEG is a sensitive technique for detecting drug effects on brain functioning and has potential in predicting the efficacy and tolerability of anti-seizure medications (ASMs).
EXPERT REVIEW OF NEUROTHERAPEUTICS
(2023)
Article
Genetics & Heredity
Gianluca D'Onofrio, Andrea Accogli, Mariasavina Severino, Haluk Caliskan, Tomislav Kokotovic, Antonela Blazekovic, Kristina Gotovac Jercic, Silvana Markovic, Tamara Zigman, Krnjak Goran, Nina Barisic, Vlasta Duranovic, Ana Ban, Fran Borovecki, Danijela Petkovic Ramadza, Ivo Baric, Walid Fazeli, Peter Herkenrath, Carla Marini, Roberta Vittorini, Vykuntaraju Gowda, Arjan Bouman, Clarissa Rocca, Issam Azmi Alkhawaja, Bibi Nazia Murtaza, Malik Mujaddad Ur Rehman, Chadi Al Alam, Gisele Nader, Maria Margherita Mancardi, Thea Giacomini, Siddharth Srivastava, Javeria Raza Alvi, Hoda Tomoum, Sara Matricardi, Michele Iacomino, Antonella Riva, Marcello Scala, Francesca Madia, Angela Pistorio, Vincenzo Salpietro, Carlo Minetti, Jean-Baptiste Riviere, Myriam Srour, Stephanie Efthymiou, Reza Maroofian, Henry Houlden, Sonja Catherine Vernes, Federico Zara, Pasquale Striano, Vanja Nagy
Summary: The CNTNAP2 gene encodes CASPR2, a presynaptic type 1 transmembrane protein, involved in cell-cell adhesion and synaptic interactions. Biallelic CNTNAP2 loss has been associated with Pitt-Hopkins-like syndrome-1, while the pathogenic role of heterozygous variants remains controversial. In this study, 22 novel patients with CNTNAP2 variants were identified, and a genotype-phenotype correlation was characterized. The presence of biallelic variants was significantly associated with global developmental delay, epilepsy, hyporeflexia, autism spectrum disorder, language impairment, and severe cognitive impairment.
Review
Endocrinology & Metabolism
Alessandro Rossi, Nicola Brunetti-Pierri
Summary: Current treatments for mucopolysaccharidoses (MPSs), including enzyme replacement therapy (ERT) and hematopoietic stem cell transplantation (HSCT), have limitations such as lack of effectiveness on brain and skeletal manifestations, lifelong injections, and high costs. Gene therapy in MPSs aims to achieve high levels of the therapeutic enzyme through gene-modified stem cells or viral vector infusion. This review discusses the recent clinical progress and various gene therapy approaches for MPSs.
JOURNAL OF INHERITED METABOLIC DISEASE
(2023)
Article
Medicine, General & Internal
Lorenzo Gigli, Simone Sala, Alberto Preda, Kenji Okubo, Giovanni Peretto, Antonio Frontera, Marisa Varrenti, Matteo Baroni, Marco Carbonaro, Sara Vargiu, Chiara Di Resta, Pasquale Striano, Patrizio Mazzone, Paolo Della Bella
Summary: The aim of this study was to assess the role of ECGs after epileptic seizures. The results showed that post-ictal ECGs may reveal disease-related alterations, especially in cases of nocturnal seizures.
JOURNAL OF CLINICAL MEDICINE
(2023)
Review
Cell Biology
Claudia Cuccurullo, Pasquale Striano, Antonietta Coppola
Summary: Familial adult myoclonus epilepsy (FAME) is a non-coding repeat expansion disorder that is associated with expansions of pentanucleotide repeats in different genes. FAME is characterized by cortical tremor and myoclonus, with infrequent seizures. The underlying mechanism of FAME is thought to involve decreased sensorimotor cortical inhibition and dysfunction of the cerebellar-thalamic-cortical loop.
Review
Clinical Neurology
Payam Tabaee Damavandi, Natalia Fabin, Riccardo Giossi, Sara Matricardi, Cinzia Del Giovane, Pasquale Striano, Stefano Meletti, Francesco Brigo, Eugen Trinka, Simona Lattanzi
Summary: This systematic review assessed the efficacy and safety of Fenfluramine (FFA) for the treatment of seizures in patients with epilepsy. The results showed that FFA significantly reduces seizure frequency in patients with Dravet syndrome (DS) and Lennox-Gastaut syndrome (LGS), but is also associated with adverse events such as decreased appetite, diarrhea, fatigue, and weight loss.
NEUROLOGY AND THERAPY
(2023)
Review
Clinical Neurology
Giorgia Giussani, Giovanni Falcicchio, Angela La Neve, Giorgio Costagliola, Pasquale Striano, Anna Scarabello, Barbara Mostacci, Ettore Beghi
Summary: Sudden unexpected death in epilepsy (SUDEP) refers to a sudden and unexpected non-traumatic and non-drowning death in an individual with epilepsy, occurring in benign circumstances and without evidence for a seizure. The incidence of SUDEP ranges from 0.09 to 2.4 per 1000 person-years, with factors such as young age, disease severity, symptomatic epilepsy, and response to antiseizure medications identified as possible predictors. The pathophysiological mechanisms of SUDEP are not fully understood and may vary depending on different circumstances, including cardiac and respiratory dysfunction, neuromodulator dysfunction, postictal EEG depression, and genetic factors.
Article
Clinical Neurology
Giovanni Battista Dell'Isola, Giorgia Tascini, Valerio Vinti, Eleonora Tulli, Gianluca Dini, Elisabetta Mencaroni, Pietro Ferrara, Giuseppe Di Cara, Pasquale Striano, Alberto Verrotti
Summary: Sleep and epilepsy have a bidirectional relationship, and melatonin may have a positive effect on improving seizure control.
FRONTIERS IN NEUROLOGY
(2023)