Article
Biochemistry & Molecular Biology
Stefano Tozza, Daniele Severi, Giovanni Palumbo, Vincenzo Provitera, Lucia Ruggiero, Raffaele Dubbioso, Rosa Iodice, Maria Nolano, Fiore Manganelli
Summary: This study evaluated the role of QST in the multidisciplinary evaluation of late onset carriers, showing that thermal QST can serve as an important tool in detecting nerve fiber dysfunction. The study found that conducting stimulation tests on the foot and/or leg can increase the chances of detecting abnormal results, while investigating the hand can provide useful information in monitoring disease progression.
Article
Clinical Neurology
Kang Du, Ke Xu, Si Cheng, He Lv, Wei Zhang, Zhaoxia Wang, Yun Yuan, Lingchao Meng
Summary: This study found that CIDP patients had larger CSAs than TTR-FAP patients, especially at certain sites. The CSA variability of median nerves showed high sensitivity and specificity in distinguishing between CIDP and TTR-FAP.
FRONTIERS IN NEUROLOGY
(2021)
Article
Clinical Neurology
Andreas Thimm, Sara Oubari, Julia Hoffmann, Alexander Carpinteiro, Maria Papathanasiou, Peter Luedike, Lukas Kessler, Christoph Rischpler, Christoph Roecken, Isabel Diebold, Tienush Rassaf, Hartmut Schmidt, Christoph Kleinschnitz, Tim Hagenacker
Summary: Hereditary transthyretin amyloidosis is a rare and genetically heterogeneous systemic disease characterized by widespread tissue deposition. Timely diagnosis and treatment are crucial for preventing rapid disease progression.
Article
Clinical Neurology
Sissel Loseth, Helle Hoyer, Kim-Mai Le, Eric Delpire, Einar Kinge, Asgeir Lande, Hilde Tveitan Hilmarsen, Toril Fagerheim, Oivind Nilssen, Geir Julius Braathen
Summary: Loseth et al. describe a new and milder phenotype of hereditary neuropathy associated with a heterozygous mutation in the SLC12A6 gene, inherited over multiple generations. The phenotype in the affected families demonstrated heterogeneity, with some patients having subtle to moderate symptoms and even some individuals having no complaints. The functional characterization of the mutant potassium chloride cotransporter 3 revealed a significant reduction in potassium influx, expanding the spectrum of SLC12A6 disease.
Review
Biochemistry & Molecular Biology
Maike F. Dohrn, Sandra Ihne, Ute Hegenbart, Jessica Medina, Stephan L. Zuchner, Teresa Coelho, Katrin Hahn
Summary: The liver-derived transport protein transthyretin (TTR) is responsible for systemic hereditary and wild-type amyloidosis. Approved therapies include TTR stabilization and knockdown. Factors influencing the disease include tetramer dissociation, genetic mutations, and external factors, while approved small molecule drugs and siRNA have shown effectiveness in reducing TTR levels and improving patients' quality of life.
JOURNAL OF NEUROCHEMISTRY
(2021)
Article
Clinical Neurology
Sarah Fullam, Zara Togher, Alan Power, Laura Kennelly, John C. McHugh, Sean O'Dowd, Niall Tubridy, Orla Hardiman, Donal Costigan, Aisling Ryan, Stela Lefter, Sean Connolly, Sinead M. Murphy
Summary: The study found that late-onset Tay-Sachs disease may present with a pure neuromuscular phenotype, which should be considered in the differential diagnosis of anterior horn cell disorders.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Article
Clinical Neurology
Kang Du, Ke Xu, Xujun Chu, Yuwei Tang, He Lv, Wei Zhang, Zhaoxia Wang, Yun Yuan, Lingchao Meng
Summary: Autonomic dysfunction is common in transthyretin familial amyloid polyneuropathy (TTR-FAP), and vagus nerve (VN) enlargement is prevalent among TTR-FAP patients. Vagus nerve ultrasonography may be an important clinical tool for assessing the severity of autonomic dysfunction in TTR-FAP, with high sensitivity and specificity in distinguishing TTR-FAP from healthy controls.
JOURNAL OF NEUROIMAGING
(2022)
Article
Pediatrics
Aurelija Kemezyte, Ruta Gegieckiene, Birute Burnyte
Summary: This study analyzed the differences in clinical manifestations and genotypes of individuals with early-onset Marfan syndrome and found personalized care and management strategies based on genotype-phenotype correlation have important implications for prognosis.
Article
Clinical Neurology
Han-Lin Chiang, Jong-Ling Fuh, Yu-Shuen Tsai, Bing-Wen Soong, Yi-Chu Liao, Yi-Chung Lee
Summary: Mutations in the AFG3L2 gene can cause a broad spectrum of diseases, including SCA28 and SPAX5. This study identified a patient with compound heterozygous mutations in AFG3L2, expanding the clinical spectrum and suggesting a new subtype of late-onset SCAR.
JOURNAL OF THE NEUROLOGICAL SCIENCES
(2021)
Article
Medicine, General & Internal
F. Cappelli, M. Zampieri, C. Fumagalli, G. Nardi, G. Del Monaco, M. Matucci Cerinic, M. Allinovi, G. Taborchi, R. Martone, M. Gabriele, A. Ungar, A. Moggi Pignone, N. Marchionni, C. Di Mario, I Olivotto, F. Perfetto
Summary: Recent evidence suggests that carpal tunnel syndrome (CTS) and brachial biceps tendon rupture (BBTR) are red flags for ATTR cardiac amyloidosis (ATTR-CA), with the prevalence of CTS and BBTR being significantly higher in ATTR-CA patients compared to patients with other hypertrophic phenotypes like HCM or AFD. The study concluded that the presence of bilateral CTS in ATTR-CA patients had the highest positive predictive accuracy for ATTR-CA, making upper limb assessment a simple and effective way to raise suspicion of ATTR-CA in patients with HCM phenotypes.
JOURNAL OF INTERNAL MEDICINE
(2021)
Article
Genetics & Heredity
Siqi Cheng, Weihong Chen, Mingmin Zhao, Xing Xing, Lei Zhao, Bowen Ren, Na Li
Summary: This case report focuses on a late-onset case of cblC defect, a genetic disorder of cobalamin metabolism. The patient initially presented with depression and was later diagnosed with compound heterozygous mutations in the MMACHC gene. The report provides insights into the clinical features, genotype-phenotype relationship, diagnosis, and treatment of cblC defect.
FRONTIERS IN GENETICS
(2022)
Article
Geriatrics & Gerontology
Lihua Yu, Guoping Peng, Yuan Yuan, Min Tang, Ping Liu, Xiaoyan Liu, Jie Ni, Yi Li, Caihong Ji, Ziqi Fan, Wenli Zhu, Benyan Luo, Qing Ke
Summary: This study summarized the gene mutation spectrum of ATP1A3 associated with RDP and explored the correlation between ATP1A3 variants and RDP clinical phenotypes. The study found specific mutation hotspots in ATP1A3, common delays in diagnosis, and potential effective treatments.
FRONTIERS IN AGING NEUROSCIENCE
(2022)
Article
Urology & Nephrology
Fabio R. Salerno, Letizia Roggero, Federica Rossi, Agnese Binaggia, Silvio Bertoli, Federico Pieruzzi
Summary: This case study presents a 76-year-old male with late-onset Fabry disease caused by the p.N215S missense mutation, who also has Fabry cardiomyopathy and nephropathy. The diagnosis of Fabry disease in this patient was incidental and followed the onset of minimal change disease, leading to nephrotic syndrome and acute kidney injury requiring renal replacement therapy. The importance of electron microscopy is emphasized in identifying Fabry nephropathy and common histological features shared with minimal change disease, highlighting the challenges in diagnosis and clinical management.
CLINICAL KIDNEY JOURNAL
(2022)
Article
Dermatology
Weilong Zhong, Linghan Hu, Xu Cao, Jiahui Zhao, Xianning Zhang, Mingyang Lee, Huijun Wang, Jie Zhang, Quan Chen, Cheng Feng, Lina Duo, Xiuli Wang, Li Tang, Zhimiao Lin, Yong Yang
Summary: The study identified new and recurrent variations in the TRPV3 gene in patients with Olmsted syndrome, finding that variations in specific regions of the gene significantly enhance channel function and lead to severe phenotypes, while other variations have milder effects.
JOURNAL OF INVESTIGATIVE DERMATOLOGY
(2021)
Article
Physics, Multidisciplinary
Pablo Catalan, Juan Antonio Garcia-Martin, Jacobo Aguirre, Jose A. Cuesta, Susanna Manrubia
Summary: Not all phenotypes are equally accessible to evolving populations. Larger phenotypes resulting from a variety of genotypes are more common and easily maintained. Genotypes that map to these phenotypes form connected networks, allowing access to numerous alternative phenotypes. The reproductive ability and topology of the genotype network impact the fitness of a phenotype, and a fraction of phenotypes is unattainable.
JOURNAL OF PHYSICS A-MATHEMATICAL AND THEORETICAL
(2023)
Review
Medical Laboratory Technology
Suzan Boutary, Andoni Echaniz-Laguna, David Adams, Julien Loisel-Duwattez, Michael Schumacher, Charbel Massaad, Liliane Massaad-Massade
Summary: CMT1A, caused by a duplication on chromosome 17p11.2, is the most common form of CMT disease. Current treatments are symptomatic, but there is promising potential in PMP22-targeted small interfering RNA and antisense oligonucleotides.
TRANSLATIONAL RESEARCH
(2021)
Article
Clinical Neurology
Andreas Traschutz, Andrea Cortese, Selina Reich, Natalia Dominik, Jennifer Faber, Heike Jacobi, Annette M. Hartmann, Dan Rujescu, Solveig Montaut, Andoni Echaniz-Laguna, Sevda Erer, Valerie Cornelia Schutz, Alexander A. Tarnutzer, Marc Sturm, Tobias B. Haack, Nadege Vaucamps-Diedhiou, Helene Puccio, Ludger Schols, Thomas Klockgether, Bart P. van de Warrenburg, Martin Paucar, Dagmar Timmann, Ralf-Dieter Hilgers, Jose Gazulla, Michael Strupp, German Moris, Alessandro Filla, Henry Houlden, Mathieu Anheim, Jon Infante, A. Nazli Basak, Matthis Synofzik
Summary: The study found that RFC1 disease is common across different populations, with CANVAS and ACC as highly diagnostic features, but the phenotype is variable and overlapping, spanning a spectrum of multisystem diseases. Treatment trials require a large number of patients to detect reduced progression.
Article
Medical Laboratory Technology
Kenneth Chappell, Bruno Francou, Christophe Habib, Thomas Huby, Marco Leoni, Aurelien Cottin, Florian Nadal, Eric Adnet, Eric Paoli, Christophe Oliveira, Celine Verstuyft, Anne Davit-Spraul, Pauline Gaignard, Elise Lebigot, Jean-Charles Duclos-Vallee, Jacques Young, Peter Kamenicky, David Adams, Andoni Echaniz-Laguna, Emmanuel Gonzales, Claire Bouvattier, Agnes Linglart, Veronique Picard, Emilie Bergoin, Emmanuel Jacquemin, Anne Guiochon-Mantel, Alexis Proust, Jerome Bouligand
Summary: This study reports 5 years of experience in using the Galaxy platform for high-throughput sequencing data analysis in a clinical laboratory setting. The results demonstrate that Galaxy is a suitable platform with great potential to benefit patient care in a clinical laboratory setting.
CLINICAL CHEMISTRY
(2022)
Article
Clinical Neurology
Luca Leonardi, Clovis Adam, Guillemette Beaudonnet, Diane Beauvais, Cecile Cauquil, Adeline Not, Olivier Morassi, Anouar Benmalek, Olivier Trassard, Andoni Echaniz-Laguna, David Adams, Celine Labeyrie
Summary: This study aimed to assess the role of skin biopsy as a marker of disease onset and severity in hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN). The results showed that skin amyloid deposits are a marker of ATTRv-PN disease onset, and decreased intraepidermal nerve fiber density (IENFD) is a marker of disease progression.
EUROPEAN JOURNAL OF NEUROLOGY
(2022)
Article
Clinical Neurology
Edouard Berling, Guillaume Fargeot, Karine Aure, Tuan Huy Tran, Nathalie Kubis, Pierre Lozeron, Adrien Zanin
Summary: Recreational nitrous oxide abuse can lead to severe motor neuropathy and ataxia in young patients, with elevated homocysteine levels and normal cobalamin levels. Despite vitamin B12 supplementation, symptoms may only partially resolve, highlighting the need for long-term follow-up to assess the severity of these toxic neuropathies.
JOURNAL OF NEUROLOGY
(2022)
Article
Genetics & Heredity
Benoit Sanson, Caroline Stalens, Celine Guien, Luisa Villa, Catherine Eng, Sitraka Rabarimeriarijaona, Rafaelle Bernard, Pascal Cintas, Guilhem Sole, Vincent Tiffreau, Andoni Echaniz-Laguna, Armelle Magot, Raul Juntas Morales, Francois Constant Boyer, Aleksandra Nadaj-Pakleza, Agnes Jacquin-Piques, Christophe Beroud, Sabrina Sacconi, French Fshd Registry Collaboration Group
Summary: The study evaluated the data quality of the French National Registry of FSHD. The results showed that patient and physician answers were largely concordant when addressing quantitative and objective items. However, there was a poor correlation between data provided in the two forms for FSHD-specific signs. The revised data collection forms rely more on patient-reported data to improve efficiency and quality of data collection.
ORPHANET JOURNAL OF RARE DISEASES
(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
Cardiac & Cardiovascular Systems
Konstantinos Savvatis, Christoffer Rasmus Vissing, Lori Klouvi, Anca Florian, Mehjabin Rahman, Anthony Behin, Abdallah Fayssoil, Marion Masingue, Tanya Stojkovic, Henri Marc Becane, Nawal Berber, Fanny Mochel, Denis Duboc, Bertrand Fontaine, Bjorg Krett, Caroline Stalens, Julie Lejeune, Robert D. S. Pitceathly, Luis Lopes, Malika Saadi, Thomas Gossios, Vincent Procaccio, Marco Spinazzi, Celine Tard, Pascal De Groote, Claire-Marie Dhaenens, Claire Douillard, Andoni Echaniz-Laguna, Ros Quinlivan, Michael G. Hanna, Ali Yilmaz, John Vissing, Pascal Laforet, Perry Elliott, Karim Wahbi
Summary: This study aimed to develop prediction models for heart failure and arrhythmic MACE in patients with mitochondrial diseases. The results showed that specific genetic variants and cardiac assessments could serve as predictors. These models demonstrated high predictive accuracy.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
(2022)
Article
Clinical Neurology
A. Echaniz-Laguna, C. Cauquil, C. Labeyrie, D. Adams
Summary: Hereditary transthyretin amyloidosis (ATTRv) is a rare, lethal, autosomal dominant disorder caused by mutations in the TTR gene. Recent therapeutic breakthroughs include effective treatments using small interfering RNA (siRNA) and antisense oligonucleotide (ASO) targeting liver TTR mRNA, as well as CRISPR-Cas9-based TTR gene editing. These developments have shifted the paradigm of treating ATTRv and offer potential treatments for other genetic disorders.
REVUE NEUROLOGIQUE
(2023)
Article
Biochemistry & Molecular Biology
Pierre Socie, Anouar Benmalek, Cecile Cauquil, Eve Piekarski, Ilias Kounis, Ludivine Eliahou, Antoine Rousseau, Francois Rouzet, Andoni Echaniz-Laguna, Didier Samuel, David Adams, Michel S. Slama, Vincent Algalarrondo
Summary: By stabilizing transthyretin, tafamidis delays progression of amyloidosis due to transthyretin variant (ATTRv) and replaced liver transplantation (LT) as the first-line therapy. This study compared the effects of these two treatment strategies and found that patients treated with tafamidis had longer survival but higher risks of cardiac and neurological deterioration compared to liver transplantation.
AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS
(2023)
Article
Clinical Neurology
Luce Barbat du Closel, Nathalie Bonello-Palot, Yann Pereon, Andoni Echaniz-Laguna, Jean Philippe Camdessanche, Aleksandra Nadaj-Pakleza, Jean-Baptiste Chanson, Simon Frachet, Laurent Magy, Julien Cassereau, Pascal Cintas, Ariane Choumert, Perrine Devic, Sarah Leonard Louis, Robinson Gravier Dumonceau, Emilien Delmont, Emmanuelle Salort-Campana, Francoise Bouhour, Philippe Latour, Tanya Stojkovic, Shahram Attarian
Summary: This study investigated the clinical presentation of patients with CMTX1 and found that women usually have milder clinical symptoms compared to men. The study also identified two subgroups of women over the age of 48, with one group showing similar disease progression to men.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Article
Clinical Neurology
Andoni Echaniz-Laguna, Cecile Cauquil, Jean-Baptiste Chanson, Celine Tard, Lucie Guyant-Marechal, Thierry Kuntzer, Ioana Maria Ion, Anne-Sophie Lia, Jerome Bouligand, Vianney Poinsignon
Summary: Mutations in the EGR2 gene cause various hereditary neuropathies, including CMT1D, CHN1, DSS, and CMT2. Our study found that EGR2 gene-related neuropathies are rare, slowly progressive demyelinating neuropathies with two major clinical presentations: childhood-onset and adult-onset variants.
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM
(2023)
Article
Medicine, General & Internal
Clement Vialatte de Pemille, Nicolas Noel, Clovis Adam, Celine Labeyrie, Adeline Not, Guillemette Beaudonnet, Andoni Echaniz-Laguna, David Adams, Cecile Cauquil
Summary: Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is a rare autoimmune disorder of the peripheral nervous system that requires distinguishing from sarcoidosis-associated CIDP (SAR-CIDP) and connective tissue disease-associated CIDP (CTD-CIDP). In this study, SAR-CIDP was found to have an acute or subacute onset, while CTD-CIDP was mostly associated with Sjogren's syndrome and lupus and had a chronic onset. Age at onset, presentation, onset of symptoms, and weight loss were identified as important factors for differentiating SAR-CIDP and CTD-CIDP. Response to intravenous immunoglobulin therapy was lower in the combined SAR-CIDP and CTD-CIDP group.
JOURNAL OF CLINICAL MEDICINE
(2023)
Meeting Abstract
Clinical Neurology
Luca Leonardi, Clovis Adam, Beaudonnet Guillemette, Beauvais Diane, Cauquil Cecile, Adeline Not, Olivier Morassi, Benmalek Anouar, Olivier Trassard, Andoni Echaniz-Laguna, David Adams, Celine Labeyrie
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM
(2022)
Meeting Abstract
Clinical Neurology
Luca Leonardi, David Adams, Clovis Adam, Guillemet Beaudonnet, Diane Beauvais, Cecile Cauquil, Adeline Not, Olivier Morassi, Andoni Echaniz-Laguna, Celine Labeyrie
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM
(2022)
