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1. Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)

Author

Scalco, R. S., Lucia, A., Santalla, A., Martinuzzi, A., Vavla, M., Reni, G., Toscano, A., Musumeci, O., Voermans, N. C., Kouwenberg, C. V., Laforet, P., San-Millan, B., Vieitez, I., Siciliano, G., Kuhnle, E., Trost, R., Sacconi, S., Stemmerik, M. G., Durmus, H., Kierdaszuk, B., Wakelin, A., Andreu, A. L., Pinos, T., Marti, R., Quinlivan, R., Vissing, J., Baruch, N., Ortega, F. J., Martin, M. A., Navarro, C., Millan, B. S., Castelli, M., Zucchi, F., Bruno, C., Scalco, R., Hadjgeorgiou, G., Zintzaras, E., Vorgerd, M., Zulow, E., Haller, R., Oflazer, P., and Pouget, J.

Subjects
0301 basic medicine, Pediatrics, medicine.medical_specialty, Weakness, McArdle disease, Myopathy, Glycogen storage disease, International registry, Metabolic diseases, Rare diseases, Population, Terapéutica, Physical examination, Glucógeno, 03 medical and health sciences, Tratamiento médico, 0302 clinical medicine, All institutes and research themes of the Radboud University Medical Center, Ptosis, medicine, Humans, Pharmacology (medical), Registries, education, Genetics (clinical), Metabolismo, education.field_of_study, medicine.diagnostic_test, business.industry, Enfermedades raras, Muscles, Research, Myoglobinuria, Muscle weakness, General Medicine, medicine.disease, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Europe, 030104 developmental biology, Glycogen Storage Disease Type V, medicine.symptom, business, Body mass index, Enfermedad, 030217 neurology & neurosurgery
Abstract

Background The European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC) was launched to register rare muscle glycogenoses in Europe, to facilitate recruitment for research trials and to learn about the phenotypes and disseminate knowledge about the diseases through workshops and websites. A network of twenty full and collaborating partners from eight European countries and the US contributed data on rare muscle glycogenosis in the EUROMAC registry. After approximately 3 years of data collection, the data in the registry was analysed. Results Of 282 patients with confirmed diagnoses of muscle glycogenosis, 269 had McArdle disease. New phenotypic features of McArdle disease were suggested, including a higher frequency (51.4%) of fixed weakness than reported before, normal CK values in a minority of patients (6.8%), ptosis in 8 patients, body mass index above background population and number of comorbidities with a higher frequency than in the background population (hypothyroidism, coronary heart disease). Conclusions The EUROMAC project and registry have provided insight into new phenotypic features of McArdle disease and the variety of co-comorbidities affecting people with McArdle disease. This should lead to better management of these disorders in the future, including controlling weight, and preventive screening for thyroid and coronary artery diseases, as well as physical examination with attention on occurrence of ptosis and fixed muscle weakness. Normal serum creatine kinase in a minority of patients stresses the need to not discard a diagnosis of McArdle disease even though creatine kinase is normal and episodes of myoglobinuria are absent.

Published
2020
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2. Brain Structure and Degeneration Staging in Friedreich Ataxia: Magnetic Resonance Imaging Volumetrics from the ENIGMA‐Ataxia Working Group

Author

Caterina Tonon, Thiago Junqueira Ribeiro de Rezende, Christophe Lenglet, Wolfgang Nachbauer, Jörg B. Schulz, Kathrin Reetz, Christoph Scherfler, James M. Joers, Francesco Saccà, Gary F. Egan, Carlos R. Hernandez-Castillo, Marinela Vavla, Dagmar Timmann, Mario Mascalchi, Alberto R. M. Martinez, Sophia Göricke, Chiara Marzi, Paul M. Thompson, Imis Dogan, Sirio Cocozza, Giuseppe Pontillo, Stefania Evangelisti, David Neil Manners, Louise A. Corben, Pierre-Gilles Henry, Laura Ludovica Gramegna, Diane Hutter, Filippo Arrigoni, Ian H. Harding, Raffaele Lodi, Stefano Diciotti, Chiara Pane, Sophia I. Thomopoulos, Marcondes C. França, Andreas Deistung, Neda Jahanshad, Sandro Romanzetti, Pramod Kumar Pisharady, Andrea Martinuzzi, Ambra Stefani, Stefania Tirelli, Sylvia Boesch, Martin B. Delatycki, Sidhant Chopra, Denis Peruzzo, Arturo Brunetti, Nellie Georgiou-Karistianis, Claudia Testa, Harding I.H., Chopra S., Arrigoni F., Boesch S., Brunetti A., Cocozza S., Corben L.A., Deistung A., Delatycki M., Diciotti S., Dogan I., Evangelisti S., Franca M.C., Goricke S.L., Georgiou-Karistianis N., Gramegna L.L., Henry P.-G., Hernandez-Castillo C.R., Hutter D., Jahanshad N., Joers J.M., Lenglet C., Lodi R., Manners D.N., Martinez A.R.M., Martinuzzi A., Marzi C., Mascalchi M., Nachbauer W., Pane C., Peruzzo D., Pisharady P.K., Pontillo G., Reetz K., Rezende T.J.R., Romanzetti S., Sacca F., Scherfler C., Schulz J.B., Stefani A., Testa C., Thomopoulos S.I., Timmann D., Tirelli S., Tonon C., Vavla M., Egan G.F., and Thompson P.M.

Subjects
Adult, Male, Cerebellum, Ataxia, Medizin, Pyramidal Tracts, Grey matter, Young Adult, Image Processing, Computer-Assisted, Humans, Medicine, Pyramidal Tract, ddc:610, Age of Onset, business.industry, Brain, Voxel-based morphometry, Middle Aged, Spinal cord, Magnetic Resonance Imaging, Dentate nucleus, medicine.anatomical_structure, Neurology, Friedreich Ataxia, Brain size, Disease Progression, Female, Neurology (clinical), Brainstem, medicine.symptom, business, Neuroscience, Human
Abstract

Objective: Friedreich ataxia (FRDA) is an inherited neurological disease defined by progressive movement incoordination. We undertook a comprehensive characterization of the spatial profile and progressive evolution of structural brain abnormalities in people with FRDA. Methods: A coordinated international analysis of regional brain volume using magnetic resonance imaging data charted the whole-brain profile, interindividual variability, and temporal staging of structural brain differences in 248 individuals with FRDA and 262 healthy controls. Results: The brainstem, dentate nucleus region, and superior and inferior cerebellar peduncles showed the greatest reductions in volume relative to controls (Cohen d= 1.5–2.6). Cerebellar gray matter alterations were most pronounced in lobules I–VI (d= 0.8), whereas cerebral differences occurred most prominently in precentral gyri (d= 0.6) and corticospinal tracts (d= 1.4). Earlier onset age predicted less volume in the motor cerebellum (rmax= 0.35) and peduncles (rmax= 0.36). Disease duration and severity correlated with volume deficits in the dentate nucleus region, brainstem, and superior/inferior cerebellar peduncles (rmax= −0.49); subgrouping showed these to be robust and early features of FRDA, and strong candidates for further biomarker validation. Cerebral white matter abnormalities, particularly in corticospinal pathways, emerge as intermediate disease features. Cerebellar and cerebral gray matter loss, principally targeting motor and sensory systems, preferentially manifests later in the disease course. Interpretation: FRDA is defined by an evolving spatial profile of neuroanatomical changes beyond primary pathology in the cerebellum and spinal cord, in line with its progressive clinical course. The design, interpretation, and generalization of research studies and clinical trials must consider neuroanatomical staging and associated interindividual variability in brain measures. ANN NEUROL 2021;90:570–583.

Published
2021
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3. Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

Author

Thomas Roux, Mathieu Barbier, Mélanie Papin, Claire-Sophie Davoine, Sabrina Sayah, Giulia Coarelli, Perrine Charles, Cecilia Marelli, Livia Parodi, Christine Tranchant, Cyril Goizet, Stephan Klebe, Ebba Lohmann, Lionel Van Maldergem, Christine van Broeckhoven, Marie Coutelier, Christelle Tesson, Giovanni Stevanin, Charles Duyckaerts, Alexis Brice, Alexandra Durr, Frédéric Darios, Sylvie Forlani, Pitié-Salpêtrière Site, Guillaume Banneau, Cécile Cazeneuve, Bertrand Fontaine, Jean-Philippe Azulay, Odile Boesfplug-Tanguy, Didier Hannequin, Jamilé Hazan, Andrea Burgo, Christophe Verny, Michel Koenig, Pierre Labauge, Karine N’guyen, Diana Rodriguez, Soraya Belarbi, Abdelmadjid Hamri, Meriem Tazir, Sylvia Boesch, Massimo Pandolfo, Jardim Laura, Velina Guergueltcheva, Ivalo Tournev, Olga Lucia Pedraza Linarès, Jørgen E. Nielsen, Kirsten Svenstrup, Maha Zaki, Peter Bauer, Lüdger Schöls, Rebecca Schüle, Alexander Lossos, Maria-Teresa Bassi, Manuela Basso, Enrico Bertini, Alfredo Brusco, Carlo Casali, Giorgio Casari, Chiara Criscuolo, Alessandro Filla, Laura Orsi, Filippo M. Santorelli, Enza Maria Valente, Marinela Vavla, Giovanni Vazza, André Megarbane, Ali Benomar, Berry Kremer, Willeke Van Roon-Mom, Richard Roxburgh, Anne Kjersti Erichsen, Chantal Tallaksen, Isabel Alonso, Paula Coutinho, José Léal Loureiro, Jorge Sequeiros, Mustapha Salih, Vladimir S. Kostic, Idoia Rouco Axpe, Liena Elsayed, Martin Arce Paucar, Samir Roumani, Soong Bing-Wen, Evan Reid, Nethisinghe Suran, Thomas Warner, Nicholas Wood, Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Département de neurologie [Montpellier], Université Montpellier 1 (UM1)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Hôpital Gui de Chauliac [Montpellier]-Université de Montpellier (UM), Mécanismes moléculaires dans les démences neurodégénératives (MMDN), Université de Montpellier (UM)-Université Montpellier 2 - Sciences et Techniques (UM2)-Institut National de la Santé et de la Recherche Médicale (INSERM)-École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL), CHU Strasbourg, Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) (U1211 INSERM/MRGM), Université de Bordeaux (UB)-Groupe hospitalier Pellegrin-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Bordeaux [Bordeaux], Universitätsklinikum Essen [Universität Duisburg-Essen] (Uniklinik Essen), University of Tübingen, Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), University of Antwerp (UA), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), SPATAX Network, Roux, T., Barbier, M., Papin, M., Davoine, C. -S., Sayah, S., Coarelli, G., Charles, P., Marelli, C., Parodi, L., Tranchant, C., Goizet, C., Klebe, S., Lohmann, E., Van Maldergen, L., van Broeckhoven, C., Coutelier, M., Tesson, C., Stevanin, G., Duyckaerts, C., Brice, A., Durr, A., Darios, F., Forlani, S., Site, P. -S., Banneau, G., Cazeneuve, C., Fontaine, B., Azulay, J. -P., Boesfplug-Tanguy, O., Hannequin, D., Hazan, J., Burgo, A., Verny, C., Koenig, M., Labauge, P., N'Guyen, K., Rodriguez, D., Belarbi, S., Hamri, A., Tazir, M., Boesch, S., Pandolfo, M., Laura, J., Guergueltcheva, V., Tournev, I., Pedraza Linares, O. L., Nielsen, J. E., Svenstrup, K., Zaki, M., Bauer, P., Schols, L., Schule, R., Lossos, A., Bassi, M. -T., Basso, M., Bertini, E., Brusco, A., Casali, C., Casari, G., Criscuolo, C., Filla, A., Orsi, L., Santorelli, F. M., Valente, E. M., Vavla, M., Vazza, G., Megarbane, A., Benomar, A., Kremer, B., Van Roon-Mom, W., Roxburgh, R., Erichsen, A. K., Tallaksen, C., Alonso, I., Coutinho, P., Loureiro, J. L., Sequeiros, J., Salih, M., Kostic, V. S., Rouco Axpe, I., Elsayed, L., Paucar, M. A., Roumani, S., Bing-Wen, S., Reid, E., Suran, N., Warner, T., and Wood, N.

Subjects
Male, Pathology, MESH: Ataxia, Purkinje cell, Medizin, MESH: Cognitive Dysfunction, 0302 clinical medicine, spinocerebellar ataxia, ATP-Dependent Proteases, SCA48, Medicine, Genetics (clinical), 0303 health sciences, Penetrance, 3. Good health, MESH: Cerebellar Ataxia, MESH: ATPases Associated with Diverse Cellular Activities, medicine.anatomical_structure, Spinocerebellar ataxia, Female, medicine.symptom, Frontotemporal dementia, medicine.medical_specialty, Ataxia, Cerebellar Ataxia, MESH: Spinocerebellar Ataxias, Ubiquitin-Protein Ligases, Neuropathology, 03 medical and health sciences, MESH: ATP-Dependent Proteases, Atrophy, Humans, Spinocerebellar Ataxias, Cognitive Dysfunction, 030304 developmental biology, cognitive impairment, SCAR16, STUB1, MESH: Humans, Cerebellar ataxia, business.industry, medicine.disease, MESH: Ubiquitin-Protein Ligases, MESH: Male, ATPases Associated with Diverse Cellular Activities, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Human medicine, business, MESH: Female, 030217 neurology & neurosurgery
Abstract

International audience; Purpose: Pathogenic variants in STUB1 were initially described in autosomal recessive spinocerebellar ataxia type 16 and dominant cerebellar ataxia with cerebellar cognitive dysfunction (SCA48).Methods: We analyzed a large series of 440 index cerebellar ataxia cases, mostly with dominant inheritance.Results: STUB1 variants were detected in 50 patients. Age at onset and severity were remarkably variable. Cognitive impairment, predominantly frontal syndrome, was observed in 54% of STUB1 variant carriers, including five families with Huntington or frontotemporal dementia disease-like phenotypes associated with ataxia, while no STUB1 variant was found in 115 patients with frontotemporal dementia. We report neuropathological findings of a STUB1 heterozygous patient, showing massive loss of Purkinje cells in the vermis and major loss in the cerebellar hemispheres without atrophy of the pons, hippocampus, or cerebral cortex. This screening of STUB1 variants revealed new features: (1) the majority of patients were women (70%) and (2) "second hits" in AFG3L2, PRKCG, and TBP were detected in three families suggesting synergic effects.Conclusion: Our results reveal an unexpectedly frequent (7%) implication of STUB1 among dominantly inherited cerebellar ataxias, and suggest that the penetrance of STUB1 variants could be modulated by other factors, including sex and variants in other ataxia-related genes.

Published
2020
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