Review
Endocrinology & Metabolism
Malene Mejdahl Nielsen, Esben Thade Petersen, Christina Duhring Fenger, Mette Cathrine Orngreen, Hartwig Roman Siebner, Vincent Oltman Boer, Michal Povaz, Allan Lund, Sabine Weller Gronborg, Trine Bjorg Hammer
Summary: This study reports a new case of a female patient with learning disabilities and seizures. The diagnosis was confirmed through molecular genetic testing and proton magnetic resonance spectroscopy (1H-MRS). The patient was treated with supplementation of creatine, arginine, and glycine, leading to significant clinical improvement and increased creatine levels in the brain after 28 months of treatment. Additionally, a review of 32 female cases from the literature provides valuable information on the phenotypes, genotypes, diagnostic approaches, and effects of supplementation treatment.
MOLECULAR GENETICS AND METABOLISM
(2023)
Article
Genetics & Heredity
Luca Rocchetti, Eloisa Evangelista, Luigia De Falco, Giovanni Savarese, Pasquale Savarese, Raffaella Ruggiero, Luigi D'Amore, Alberto Sensi, Antonio Fico
Summary: X-linked intellectual deficiency is a genetic disorder involving over 100 genes. This study reports on two first cousins with X-linked Ohdo syndrome and a missense mutation in the MED12 gene, contributing to the expanding phenotypic spectrum of MED12-related disorders. The study also demonstrates phenotypic variability among affected patients with identical mutations.
Review
Neurosciences
Jiaqing Li, Sanqing Xu
Summary: This case report describes a 3-year-9-month-old boy with GDD, autistic behavior, and epilepsy, who was diagnosed with CTD through MR spectroscopy and metabolic screening. Creatine supplementation therapy led to seizure cessation and modest cognitive improvement after six months of treatment. This highlights the importance of MR spectroscopy and metabolic screening in early diagnosis and therapeutic intervention.
Article
Genetics & Heredity
Siwen Liu, Lin Li, Hairong Wu, Pei Pei, Xuefei Zheng, Hong Pan, Xinhua Bao, Yu Qi, Yinan Ma
Summary: This study focused on the characteristics of ABCD1 variants in Chinese X-ALD families and found 61 variants in 68 families. Prenatal diagnosis showed that 10 out of 20 foetuses had no ABCD1 variants.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2022)
Article
Multidisciplinary Sciences
Leslie C. Jellen, Mechelle M. Lewis, Guangwei Du, Xi Wang, Martha L. Escobar Galvis, Stanislaw Krzyzanowski, Colt D. Capan, Amanda M. Snyder, James R. Connor, Lan Kong, Richard B. Mailman, Patrik Brundin, Lena Brundin, Xuemei Huang
Summary: The study found that Parkinson's disease (PD) patients have lower plasma serotonin levels and higher nigral iron content. The negative correlation between plasma serotonin levels and nigral iron content is significant in PD patients, especially in those newly diagnosed.
SCIENTIFIC REPORTS
(2021)
Article
Immunology
Jessica Rojas-Restrepo, Andres Caballero-Oteyza, Katrin Huebscher, Hanna Haberstroh, Manfred Fliegauf, Baerbel Keller, Robin Kobbe, Klaus Warnatz, Stephan Ehl, Michele Proietti, Bodo Grimbacher
Summary: Predominantly antibody deficiencies (PAD) are a diverse group of disorders characterized by dysfunctional antibody production, low immunoglobulin levels in serum and impaired vaccine responses. Timely diagnosis is crucial in improving disease prognosis for patients with PAD, whose clinical presentation varies.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Medicine, General & Internal
Christina G. Tise, Melinda J. Palma, Kristina P. Cusmano-Ozog, Dena R. Matalon
Summary: Cerebral creatine deficiency syndromes (CCDS) are a rare group of inherited metabolic disorders that present with nonspecific symptoms. Creatine transporter (CRTR) deficiency is the most common CCDS, with X-linked inheritance. This case report describes a 20-month-old boy with failure to thrive (FTT) and abnormal neurodevelopmental features. He was diagnosed with CRTR deficiency based on low serum creatinine levels, elevated urine creatine, and a family history of learning disabilities and developmental delay. Early diagnosis and intervention are important for affected individuals, as there are existing therapies for CCDS.
JOURNAL OF INVESTIGATIVE MEDICINE HIGH IMPACT CASE REPORTS
(2023)
Article
Medicine, General & Internal
Jordan W. Squair, Maxime Berney, Mayte Castro Jimenez, Nicolas Hankov, Robin Demesmaeker, Suje Amir, Aurelie Paley, Sergio Hernandez-Charpak, Gregory Dumont, Leonie Asboth, Gilles Allenbach, Fabio Becce, Patrick Schoettker, Gregoire Wuerzner, Julien F. Bally, Gregoire Courtine, Jocelyne Bloch
Summary: Orthostatic hypotension is a common symptom of multiple-system atrophy, which greatly hinders patients' ability to stand and walk. However, through the implantation of a system that utilizes epidural electrical stimulation and accelerometers, patients with multiple-system atrophy regained the ability to stand and walk.
NEW ENGLAND JOURNAL OF MEDICINE
(2022)
Article
Clinical Neurology
Markus Gschwind, Nuria Garcia Segarra, Andre Schaller, Ramona Bolognini, Jean-Marc Nuoffer, Raphael Hourez, Manuel Deprez, Benoit Lhermitte, Philippe Maeder, Christel Tran, Thierry Kuntzer
Summary: This article presents a patient with spastic paraplegia and ataxia, which lasted for 40 years and eventually led to death due to postinfectious lactic acidosis. Various diagnostic methods revealed the patient had a biallelic variant of the NDUFV1 gene, causing necrotizing leukoencephalomyelopathy. This case extends the understanding of NDUFV1 variants and highlights the need for awareness of respiratory chain diseases in adult patients with sudden deteriorating neurological deficits.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
(2022)
Article
Clinical Neurology
Claire Peillet, David Adams, Shahram Attarian, Francoise Bouhour, Cecile Cauquil, Julien Cassereau, Jean-Baptiste Chanson, Pascal Cintas, Alain Creange, Emilien Delmont, Guillaume Fargeot, Steeve Genestet, Antoine Gueguen, Anne Laure Kaminsky, Thierry Kuntzer, Celine Labeyrie, Maud Michaud, Yann Pereon, Angela Puma, Karine Viala, Pascale Chretien, Clovis Adam, Andoni Echaniz-Laguna
Summary: Chronic neuropathies with anti-disialosyl ganglioside IgM antibodies have distinctive clinical features, with most patients responsive to intravenous immunoglobulins and showing a favorable prognosis in the majority of cases.
EUROPEAN JOURNAL OF NEUROLOGY
(2022)
Article
Clinical Neurology
Thomas Wirth, Giacomo Garone, Manju A. Kurian, Amelie Piton, Francisca Millan, Aida Telegrafi, Nathalie Drouot, Gabrielle Rudolf, Jamel Chelly, Warren Marks, Lydie Burglen, Diane Demailly, Phillipe Coubes, Mayte Castro-Jimenez, Sylvie Joriot, Jamal Ghoumid, Jeremie Belin, Jean-Marc Faucheux, Lubov Blumkin, Mariam Hull, Mered Parnes, Claudia Ravelli, Gaetan Poulen, Nadege Calmels, Andrea H. Nemeth, Martin Smith, Angela Barnicoat, Claire Ewenczyk, Aurelie Meneret, Emmanuel Roze, Boris Keren, Cyril Mignot, Christophe Beroud, Fernando Acosta, Catherine Nowak, William G. Wilson, Dora Steel, Alessandro Capuano, Marie Vidailhet, Jean-Pierre Lin, Christine Tranchant, Laura Cif, Diane Doummar, Mathieu Anheim
Summary: This study described a mild GNAO1-related phenotype, including adolescent-onset dystonia, expanding the clinical spectrum of this condition.
MOVEMENT DISORDERS
(2022)
Article
Cell Biology
Yohann Thenaisie, Kyuhwa Lee, Charlotte Moerman, Stefano Scafa, Andrea Galvez, Elvira Pirondini, Morgane Burri, Jimmy Ravier, Alessandro Puiatti, Ettore Accolla, Benoit Wicki, Andre Zacharia, Mayte Castro Jimenez, Julien F. Bally, Gregoire Courtine, Jocelyne Bloch, Eduardo Martin Moraud
Summary: The disruption of subthalamic nucleus dynamics in Parkinson's disease has been found to impair walking. Researchers have developed a neurorobotic platform to investigate how the subthalamic nucleus encodes the key components of walking. They discovered that the subthalamic nucleus encodes the initiation, termination, and amplitude of leg muscle activation during walking. These findings can potentially be used to improve walking in people with Parkinson's disease using neuroprosthetic systems.
SCIENCE TRANSLATIONAL MEDICINE
(2022)
Article
Clinical Neurology
Valentin Loser, Pascal Benkert, Alex Vicino, Pansy Lim Dubois Ferriere, Thierry Kuntzer, Jerome Pasquier, Aleksandra Maceski, Jens Kuhle, Marie Theaudin
Summary: Serum neurofilament light chain (sNfL) may serve as an early and reliable biomarker of peripheral neuropathy in hATTR amyloidosis, allowing for assessment of disease severity and treatment response.
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM
(2023)
Letter
Genetics & Heredity
Beryl Royer-Bertrand, Sebastien Lebon, Ailsa Craig, Johanna Maeder, Laureane Mittaz-Crettol, Heidi Fodstad, Andrea Superti-Furga, Jean-Marc Good
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
Article
Biochemistry & Molecular Biology
Mio Aerden, Anne-Sophie Denomme-Pichon, Dominique Bonneau, Ange-Line Bruel, Julian Delanne, Benedicte Gerard, Benoit Mazel, Christophe Philippe, Lucile Pinson, Clement Prouteau, Audrey Putoux, Frederic Tran Mau-Them, Eleonore Viora-Dupont, Antonio Vitobello, Alban Ziegler, Amelie Piton, Bertrand Isidor, Christine Francannet, Pierre-Yves Maillard, Sophie Julia, Anais Philippe, Elise Schaefer, Saskia Koene, Claudia Ruivenkamp, Mariette Hoffer, Eric Legius, Miel Theunis, Boris Keren, Julien Buratti, Perrine Charles, Thomas Courtin, Mala Misra-Isrie, Mieke van Haelst, Quinten Waisfisz, Dagmar Wieczorek, Ariane Schmetz, Theresia Herget, Fanny Kortuem, Jasmin Lisfeld, Francois-Guillaume Debray, Nuria C. Bramswig, Isis Atallah, Heidi Fodstad, Guillaume Jouret, Berta Almoguera, Saoud Tahsin-Swafiri, Fernando Santos-Simarro, Maria Palomares-Bralo, Vanesa Lopez-Gonzalez, Maria Kibaek, Pernille M. Torring, Alessandra Renieri, Lucia Pia Bruno, Katrin Ounap, Monica Wojcik, Tzung-Chien Hsieh, Peter Krawitz, Hilde Van Esch
Summary: Haploinsufficiency of TRIP12 causes Clark-Baraitser syndrome, a neurodevelopmental disorder characterized by intellectual disability, epilepsy, autism spectrum disorder, and dysmorphic features. Through GestaltMatcher image analysis based on deep-learning algorithms, a distinct facial gestalt was established. The largest cohort to date of individuals with TRIP12 variants was studied, further defining the associated phenotype and introducing a facial gestalt.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Review
Genetics & Heredity
Aurel T. Tankeu, Despina Christina Pavlidou, Andrea Superti-Furga, Karim Gariani, Christel Tran
Summary: This review summarizes the available data on excess weight in adult patients with phenylketonuria (PKU). It found that adult PKU patients, especially females, often have excess weight. However, there are differences in the prevalence of excess weight in PKU patients compared to the general population. Factors such as diet, psychological status, diet-associated disordered eating, social environment, and lifestyle contribute to excess weight in PKU adults.
ORPHANET JOURNAL OF RARE DISEASES
(2023)
Article
Genetics & Heredity
Ana M. Cieza Rivera, Tania Fernandez-Villa, Vicente Martin, Isis Atallah
Summary: In this study, the 24-hour circadian rhythm of blood pressure in 24 Neurofibromatosis type 1 (NF1) patients was investigated. The majority of NF1 patients showed a non-dipper pattern with a blunted nocturnal blood pressure decline, which is considered to be an independent risk factor for cardiovascular events. Therefore, periodic monitoring of blood pressure should be included in NF1 follow-up guidelines to diagnose masked hypertension or abnormal nocturnal blood pressure decline, which would significantly increase the morbidity and mortality of NF1 patients.
ORPHANET JOURNAL OF RARE DISEASES
(2023)
Review
Clinical Neurology
E. Berthouzoz, V. Lazarevic, A. Zekeridou, M. Castro, I. Debove, S. Aybek, J. Schrenzel, P. R. Burkhard, V. Fleury
Summary: Parkinson's disease (PD) is associated with dysbiosis of the microbiota, which can influence the development of symptoms and lead to metabolic changes and inflammation. Dysbiosis also decreases the effectiveness of dopaminergic treatments. Analysis of dysbiosis can serve as a biomarker of PD, and interventions modulating the gut microbiota may influence the course of the disease.
REVUE NEUROLOGIQUE
(2023)
Article
Biochemistry & Molecular Biology
Henry Oppermann, Elia Marcos-Graneda, Linnea A. Weiss, Christina A. Gurnett, Anne Marie Jelsig, Susanne H. Vineke, Bertrand Isidor, Sandra Mercier, Kari Magnussen, Pia Zacher, Mona Hashim, Alistair T. Pagnamenta, Simone Race, Siddharth Srivastava, Zoe Frazier, Robert Maiwald, Matthias Pergande, Donatella Milani, Martina Rinelli, Jonathan Levy, Ilona Krey, Paolo Fontana, Fortunato Lonardo, Stephanie Riley, Jasmine Kretzer, Julia Rankin, Linda M. Reis, Elena V. Semina, Miriam S. Reuter, Stephen W. Scherer, Maria Iascone, Denisa Weis, Christina R. Fagerberg, Charlotte Brasch-Andersen, Lars Kjaersgaard Hansen, Alma Kuechler, Nathan Noble, Alice Gardham, Jessica Tenney, Geetanjali Rathore, Stefanie Beck-Woedl, Tobias B. Haack, Despoina C. Pavlidou, Isis Atallah, Julia Vodopiutz, Andreas R. Janecke, Tzung-Chien Hsieh, Hellen Lesmann, Hannah Klinkhammer, Peter M. Krawitz, Johannes R. Lemke, Rami Abou Jamra, Marta Nieto, Zeynep Tumer, Konrad Platzer
Summary: This study describes the clinical presentation in an extended cohort and investigates the molecular mechanism in a Cux1(+/-) mouse model. Disease-causing CUX1 variants result in a non-syndromic phenotype of developmental delay and intellectual disability. In some individuals, this phenotype improves with age, resulting in a clinical catch-up and normal IQ in adulthood.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Genetics & Heredity
Katalin Szakszon, Charles Marques Lourenco, Bert Louis Callewaert, David Genevieve, Flavien Rouxel, Denis Morin, Anne-Sophie Denomme-Pichon, Antonio Vitobello, Wesley Patterson, Raymond Louie, Filippo Vairo, Eric Klee, Charu Kaiwar, Ralitza H. Gavrilova, Katherine E. Agre, Sebastien Jacquemont, Jizi Khadije, Jacques Giltay, Koen van Gassen, Gabriella Mero, Erica Gerkes, Bregje W. Van Bon, Tuula Rinne, Rolph Pfundt, Han G. Brunner, Oana Caluseriu, Ute Grasshoff, Martin Kehrer, Tobias B. Haack, Melik Malek Khelifa, Anke Katharina Bergmann, Anna Maria Cueto-Gonzalez, Ariadna Campos Martorell, Shwetha Ramachandrappa, Lindsey B. Sawyer, Pascale Fasel, Dominique Braun, Atallah Isis, Andrea Superti-Furga, Vanda McNiven, David Chitayat, Syed Anas Ahmed, Heiko Brennenstuhl, Eva M. C. Schwaibolf, Gladys Battisti, Benoit Parmentier, Servi J. C. Stevens
Summary: This article describes a rare genetic syndrome called GDACCF syndrome, which is caused by pathogenic variants in zinc finger protein coding genes. Through international collaboration, the researchers identified 22 previously unreported individuals with the syndrome and characterized their clinical and molecular genetic features. The core clinical phenotype of GDACCF syndrome includes developmental delay, growth retardation, microcephaly, and facial dysmorphism. The study also suggests that exome sequencing is recommended for establishing a genetic diagnosis for this syndrome.
JOURNAL OF MEDICAL GENETICS
(2023)
Article
Obstetrics & Gynecology
Leo Pomar, Wawrzyniec Rieder, Estelle Dubruc, Fabienne Giuliano, Isis Atallah, Sebastien Lebon, Yvan Vial
Summary: Gomez-Lopez-Hernandez syndrome is an extremely rare neuro-cutaneous disease with a broad clinical and radiographic spectrum, including craniofacial and supra-tentorial anomalies, as well as neurodevelopmental issues.
FETAL DIAGNOSIS AND THERAPY
(2023)