Review
Biochemistry & Molecular Biology
Arun Meyyazhagan, Antonio Orlacchio
Summary: This review provides an overview of hereditary spastic paraplegia (HSP), including its clinical manifestations, etiology, diagnosis, and treatment methods. Although modern medical interventions have helped, there is still room for improvement in the treatment of this disorder.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Genetics & Heredity
Sunayna Best, Jenny Lord, Matthew Roche, Christopher M. Watson, James A. Poulter, Roel P. J. Bevers, Alex Stuckey, Katarzyna Szymanska, Jamie M. Ellingford, Jenny Carmichael, Helen Brittain, Carmel Toomes, Chris Inglehearn, Colin A. Johnson, Gabrielle Wheway
Summary: This study linked large-scale genome sequence with phenotype information to achieve a molecular diagnosis for 51.8% of probands suspected to have primary ciliopathies, higher than previously reported. A significant proportion of diagnoses were due to variants in non-ciliopathy disease genes, indicating clinical difficulties in recognizing ciliopathies.
JOURNAL OF MEDICAL GENETICS
(2022)
Article
Neurosciences
Qiao Wei, Hao Yu, Pei-Shan Wang, Juan-Juan Xie, Hai-Lin Dong, Zhi-Ying Wu, Hong-Fu Li
Summary: This study identified five different COQ4 variants in three Chinese HSP pedigrees, expanding the phenotypic spectrum of COQ4-related disorders. Additionally, two early-onset pure HSP cases caused by COQ4 variants were described for the first time.
CNS NEUROSCIENCE & THERAPEUTICS
(2023)
Review
Cell Biology
Sonia Sonda, Diana Pendin, Andrea Daga
Summary: The endoplasmic reticulum (ER) is essential for cell function, with its unique membrane architecture playing a critical role. Mutations in ER-shaping proteins have been linked to the neurodegenerative disease hereditary spastic paraplegia (HSP). While some biochemical activities of ER-related HSP proteins have been elucidated, the exact pathological mechanism remains to be determined through further investigation.
Article
Clinical Neurology
Francesca Sardina, Davide Valente, Gaia Fattorini, Ettore Cioffi, Gianmarco Dalla Zanna, Alessandra Tessa, Daniela Trisciuoglio, Silvia Soddu, Filippo M. Santorelli, Carlo Casali, Cinzia Rinaldo
Summary: The study developed an automated, simple, fast, and non-invasive cell imaging-based method to quantify microtubule cytoskeleton organization changes in lymphoblastoid cells and peripheral blood mononuclear cells. The results showed that individuals affected by SPG4-hereditary spastic paraplegia have a polarized microtubule cytoskeleton organization. The method was able to discriminate SPG4-hereditary spastic paraplegia from healthy donors and other subtypes, and detect the effects of spastin protein level changes.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Review
Biochemistry & Molecular Biology
Arun Meyyazhagan, Haripriya Kuchi Bhotla, Manikantan Pappuswamy, Antonio Orlacchio
Summary: Hereditary spastic paraplegia (HSP) is an inherited neurodegenerative disease characterized by lower muscle tone and increasing spasticity in the lower limbs. It is associated with changes in about 80 genes and their products involved in various biochemical pathways. HSP can be inherited through autosomal dominant, autosomal recessive, X-linked recessive, or mitochondrial inheritance. The prevalence of HSP is approximately 1-5 cases per 100,000 individuals globally. Current therapies for HSP are based on managing the clinical manifestations, such as muscle relaxation and physiotherapy, but there is still a lack of specific pharmaceutical treatments.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Clinical Neurology
Azusa Ikeda, Tatsuro Kumaki, Yu Tsuyusaki, Megumi Tsuji, Yumi Enomoto, Atsushi Fujita, Hirotomo Saitsu, Naomichi Matsumoto, Kenji Kurosawa, Tomohide Goto
Summary: This study retrospectively evaluated the genetic analyses, family history, clinical courses, MRI findings, and electrophysiologic findings of children diagnosed with pediatric-onset hereditary spastic paraplegias (HSPs) at a tertiary pediatric hospital in Japan. The causative gene patterns differed between children with pure-type and complex-type HSPs.
FRONTIERS IN NEUROLOGY
(2023)
Review
Neurosciences
Emanuele Panza, Arun Meyyazhagan, Antonio Orlacchio
Summary: Hereditary Spastic Paraplegias (HSPs) are a group of heterogeneous diseases characterized by progressive spasticity and weakness of the lower limbs. Although HSPs are rare conditions, they pose significant health and economic challenges. The molecular diagnostic rate for HSPs is variable, suggesting the involvement of more genes and the need for different diagnostic approaches. HSPs exhibit genetic heterogeneity, allelic heterogeneity, and overlap with other neurological conditions.
EXPERIMENTAL NEUROLOGY
(2022)
Article
Clinical Neurology
Manuela Wiessner, Reza Maroofian, Meng-Yuan Ni, Andrea Pedroni, Juliane S. Muller, Rolf Stucka, Christian Beetz, Stephanie Efthymiou, Filippo M. Santorelli, Ahmed A. Alfares, Changlian Zhu, Anna Uhrova Meszarosova, Elham Alehabib, Somayeh Bakhtiari, Andreas R. Janecke, Maria Gabriela Otero, Jin Yun Helen Chen, James T. Peterson, Tim M. Strom, Peter De Jonghe, Tine Deconinck, Willem De Ridder, Jonathan De Winter, Rossella Pasquariello, Ivana Ricca, Majid Alfadhel, Bart P. van de Warrenburg, Ruben Portier, Carsten Bergmann, Saghar Ghasemi Firouzabadi, Sheng Chih Jin, Kaya Bilguvar, Sherifa Hamed, Mohammed Abdelhameed, Nourelhoda A. Haridy, Shazia Maqbool, Fatima Rahman, Najwa Anwar, Jenny Carmichael, Alistair Pagnamenta, Nick W. Wood, Frederic Tran Mau-Them, Tobias Haack, Maja Di Rocco, Isabella Ceccherini, Michele Iacomino, Federico Zara, Vincenzo Salpietro, Marcello Scala, Marta Rusmini, Yiran Xu, Yinghong Wang, Yasuhiro Suzuki, Kishin Koh, Haitian Nan, Hiroyuki Ishiura, Shoji Tsuji, Laetitia Lambert, Emmanuelle Schmitt, Elodie Lacaze, Hanna Kuepper, David Dredge, Cara Skraban, Amy Goldstein, Mary J. H. Willis, Katheryn Grand, John M. Graham, Richard A. Lewis, Francisca Millan, Ozgur Duman, Nihal Dundar, Gokhan Uyanik, Ludger Schols, Peter Nuernberg, Gudrun Nuernberg, Andrea Catala Bordes, Pavel Seeman, Martin Kuchar, Hossein Darvish, Adriana Rebelo, Filipa Boucanova, Jean-Jacques Medard, Roman Chrast, Michaela Auer-Grumbach, Fowzan S. Alkuraya, Hanan Shamseldin, Saeed Al Tala, Jamileh Rezazadeh Varaghchi, Maryam Najafi, Selina Deschner, Dieter Glaeser, Wolfgang Huettel, Michael C. Kruer, Erik-Jan Kamsteeg, Yoshihisa Takiyama, Stephan Zuchner, Jonathan Baets, Matthis Synofzik, Rebecca Schuele, Rita Horvath, Henry Houlden, Luca Bartesaghi, Hwei-Jen Lee, Konstantinos Ampatzis, Tyler Mark Pierson, Jan Senderek
Summary: This study identified families with neurological diseases caused by HPDL variants, showing various phenotypes ranging from juvenile-onset pure hereditary spastic paraplegia to infantile-onset spastic tetraplegia. Experimental evidence suggested a role of HPDL in the nervous system and supported its link to neurological disease.
Article
Clinical Neurology
Marta Gatti, Stefania Magri, Daniela Di Bella, Elisa Sarto, Franco Taroni, Caterina Mariotti, Lorenzo Nanetti
Summary: SPG46 is a rare autosomal recessive hereditary spastic paraplegia caused by mutations in the GBA2 gene, leading to symptoms such as unsteady gait and spastic-ataxia. The disease presents with distinct clinical features and may overlap with other conditions.
NEUROLOGICAL SCIENCES
(2021)
Article
Biotechnology & Applied Microbiology
Jin Ok Yang, Ji-Yong Yoon, Duk Hyun Sung, Sohyun Yun, Jeong-Ju Lee, Soo Young Jun, Debasish Halder, Su-Jin Jeon, Eui-Jeon Woo, Jin Myoung Seok, Jin Whan Cho, Ja-Hyun Jang, Jung Kyoon Choi, Byoung Joon Kim, Nam-Soon Kim
Summary: This study identified 88 genetic variants in 54 genes from whole-exome data of 82 clinically well-defined Korean HSP families, expanding the genetic spectrum for HSP and potentially contributing to more accurate diagnosis and treatment for rare HSP. The inheritance modes varied, with 39 de novo, 33 autosomal dominant, and 10 autosomal recessive cases. Furthermore, the study revealed differences in the genetic spectrum and variation of known HSP genes across ethnic groups.
Article
Clinical Neurology
Siddharth Srivastava, Hagar Mor Shaked, Kenneth Gable, Sita D. Gupta, Xueyang Pan, Niranjanakumari Somashekarappa, Gongshe Han, Payam Mohassel, Marc Gotkine, Elizabeth Doney, Paula Goldenberg, Queenie K. G. Tan, Yi Gong, Benjamin Kleinstiver, Brian Wishart, Heidi Cope, Claudia Brito Pires, Hannah Stutzman, Rebecca C. Spillmann, Reza Sadjadi, Orly Elpeleg, Chia-Hsueh Lee, Hugo J. Bellen, Simon Edvardson, Florian Eichler, Teresa M. Dunn
Summary: Sphingolipids, abundant in myelin membranes, are crucial for the structural and signalling functions in the mammalian nervous system. Serine palmitoyltransferase (SPTSSA) is the enzyme responsible for the rate-limiting reaction in sphingolipid synthesis and its activity is tightly regulated by ORMDL proteins. Excessive sphingolipid synthesis due to impaired homeostatic regulation of serine palmitoyltransferase was found to be responsible for defects in early brain development and function. SRivastava et al. identified SPTSSA variants that disrupt ORMDL-mediated regulation of SPT, leading to hereditary spastic paraplegia.
Article
Clinical Neurology
Shao-Lun Hsu, Yi-Chu Liao, Kon-Ping Lin, Po-Yu Lin, Kai-Wei Yu, Yu-Shuen Tsai, Yuh-Cherng Guo, Yi-Chung Lee
Summary: The study revealed that SPG30 is a rare subtype of HSP in Taiwan, accounting for approximately 1.2% of patients. Mutations in the KIF1A gene may lead to hereditary HSP, presenting with complex symptoms including additional neuropathy. The research provides valuable insights into the clinical and genetic features of SPG30 in Taiwan, especially in Han Chinese patients.
PARKINSONISM & RELATED DISORDERS
(2022)
Article
Clinical Neurology
Jong Geol Do, Byoung Joon Kim, Nam-Soon Kim, Duk Hyun Sung
Summary: This study investigated the factors influencing disease severity and ambulation status of Hereditary spastic paraplegia (HSP). The findings suggest that a later age at onset and longer disease duration are significant factors affecting the disease severity and ambulatory function in patients with HSP.
JOURNAL OF CLINICAL NEUROLOGY
(2022)
Review
Neurosciences
Jose Luiz Pedroso, Thiago Cardoso Vale, Marcondes C. Franca Junior, Marcelo A. Kauffman, Helio Teive, Orlando Graziani Povoas Barsottini, Renato Puppi Munhoz
Summary: Spastic ataxia is characterized by the combination of cerebellar ataxia with spasticity and other pyramidal features. This condition can present with heterogeneous clinical features along with other neurologic and non-neurological symptoms, resulting in complex phenotypes. Establishing an organized classification method based on mode of inheritance is essential for approaching patients with these syndromes, and a diagnostic approach is proposed in this review.
Article
Clinical Neurology
Ghil Schwarz, Gargi Banerjee, Isabel C. Hostettler, Gareth Ambler, David J. Seiffge, Hatice Ozkan, Simone Browning, Robert Simister, Duncan Wilson, Hannah Cohen, Tarek Yousry, Rustam Al-Shahi Salman, Gregory Y. H. Lip, Martin M. Brown, Keith W. Muir, Henry Houlden, Rolf Jager, David J. Werring
Summary: This study found associations between putative biomarkers of parenchymal CAA and putative biomarkers of leptomeningeal CAA, and suggested that CT biomarkers may help in diagnosing CAA, but MRI still plays an important role in ICH survivors with suspected CAA.
INTERNATIONAL JOURNAL OF STROKE
(2023)
Review
Clinical Neurology
Francesca Magrinelli, Kailash P. Bhatia, Mehran Beiraghi Toosi, Fatemeh Arab, Ehsan Ghayoor Karimiani, Sahar Sedighzadeh, Behnaz Ansari, Maedeh Neshatdoust, Clarissa Rocca, Henry Houlden, Reza Maroofian
Summary: This article reports a new phenotype of childhood-onset choreo-dystonia in four patients from two unrelated Iranian pedigrees, who harbor a novel pathogenic variant in the HPCA gene. A systematic review of the literature reveals that HPCA-related dystonia can present as an isolated condition or in combination with various symptoms. Most cases show a poor or no response to common antidystonic medications.
MOVEMENT DISORDERS CLINICAL PRACTICE
(2023)
Editorial Material
Clinical Neurology
Katherine R. Schon, Patrick F. Chinnery
PRACTICAL NEUROLOGY
(2023)
Article
Genetics & Heredity
Elisa Cali, Mohnish Suri, Marcello Scala, Matteo P. Ferla, Shahryar Alavi, Eissa Ali Faqeih, Emilia K. Bijlsma, Kristen M. Wigby, Diana Baralle, Mohammad Y. Mehrjardi, Jennifer Schwab, Konrad Platzer, Katharina Steindl, Mais Hashem, Marilyn Jones, Dmitriy M. Niyazov, Jennifer Jacober, Rebecca Okashah Littlejohn, Denisa Weis, Neda Zadeh, Lance Rodan, Alice Goldenberg, Francois Lecoquierre, Marina Dutra-Clarke, Gabriella Horvath, Dana Young, Naama Orenstein, Shahad Bawazeer, Anneke T. Vulto-van Silfhout, Yvan Herenger, Mohammadreza Dehghani, Seyed Mohammad Seyedhassani, Amir Bahreini, Mahya E. Nasab, A. Gulhan Ercan-Sencicek, Zahra Firoozfar, Mojtaba Movahedinia, Stephanie Efthymiou, Pasquale Striano, Ehsan Ghayoor Karimiani, Vincenzo Salpietro, Jenny C. Taylor, Melody Redman, Alexander P. A. Stegmann, Andreas Laner, Ghada Abdel-Salam, Megan Li, Mario Bengala, Amelie Johanna Muller, Maria C. Digilio, Anita Rauch, Murat Gunel, Hannah Titheradge, Daniela N. Schweitzer, Alison Kraus, Irene Valenzuela, Scott D. McLean, Chanika Phornphutkul, Mustafa Salih, Amber Begtrup, Rhonda E. Schnur, Erin Torti, Tobias B. Haack, Carlos E. Prada, Fowzan S. Alkuraya, Henry Houlden, Reza Maroofian
Summary: PRMT7-related syndrome is a neurodevelopmental disorder characterized by short stature, intellectual developmental disability, hypotonia, brachydactyly, and distinct facial morphology. This study provides a comprehensive description of the clinical characteristics of this syndrome, contributing to a better understanding of the disease.
GENETICS IN MEDICINE
(2023)
Article
Genetics & Heredity
Heba Morsy, Mehdi Benkirane, Elisa Cali, Clarissa Rocca, Kristina Zhelcheska, Valentina Cipriani, Evangelia Galanaki, Reza Maroofian, Stephanie Efthymiou, David Murphy, Mary O'Driscoll, Mohnish Suri, Siddharth Banka, Jill Clayton-Smith, Thomas Wright, Melody Redman, Jennifer A. Bassetti, Mathilde Nizon, Benjamin Cogne, Rami Abu Jamra, Tobias Bartolomaeus, Marion Heruth, Ilona Krey, Janina Gburek-Augustat, Dagmar Wieczorek, Felix Gattermann, Meriel Mcentagart, Alice Goldenberg, Lucie Guyant-Marechal, Hector Garcia-Moreno, Paola Giunti, Brigitte Chabrol, Severine Bacrot, Roger Buissonniere, Virginie Magry, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Bela Melegh, Andras Szabo, Katalin Sumegi, Mireille Cossee, Monica Ziff, Russell Butterfield, David Hunt, Georgina Bird-Lieberman, Michael Hanna, Michel Koenig, Michael Stankewich, Jana Vandrovcova, Henry Houlden
Summary: The purpose of this study was to understand the phenotypic spectrum of SPTAN1 variants. It was found that SPTAN1 variants were significantly enriched in families with hereditary ataxia or hereditary spastic paraplegia. A total of 31 individuals with SPTAN1 variants were identified, with 10 patients presenting with pure or complex HSP/HA and the remaining 21 patients having developmental delay and seizures. Fibroblasts derived from two patients showed irregular alpha II-spectrin aggregation.
GENETICS IN MEDICINE
(2023)
Article
Genetics & Heredity
Anne-Sophie Denomme-Pichon, Leslie Matalonga, Elke de Boer, Adam Jackson, Elisa Benetti, Siddharth Banka, Ange-Line Bruel, Andrea Ciolfi, Jill Clayton-Smith, Bruno Dallapiccola, Yannis Duffourd, Kornelia Ellwanger, Chiara Fallerini, Christian Gilissen, Holm Graessner, Tobias B. Haack, Marketa Havlovicova, Alexander Hoischen, Nolwenn Jean-Marcais, Tjitske Kleefstra, Estrella Lopez-Martin, Milan Macek, Maria Antonietta Mencarelli, Sebastien Moutton, Rolph Pfundt, Simone Pizzi, Manuel Posada, Francesca Clementina Radio, Alessandra Renieri, Caroline Rooryck, Lukas Ryba, Hana Safraou, Martin Schwarz, Marco Tartaglia, Christel Thauvin-Robinet, Julien Thevenon, Frederic Tran Mau-Them, Aurelien Trimouille, Pavel Votypka, Bert B. A. de Vries, Marjolein H. Willemsen, Birte Zurek, Alain Verloes, Christophe Philippe, Antonio Vitobello, Lisenka E. L. M. Vissers, Laurence Faivre
Summary: Within the Solve-RD project, the European Reference Network aimed to investigate whether a reanalysis of exomes from unsolved cases based on ClinVar annotations could establish additional diagnoses. The results of the ClinVar low-hanging fruit reanalysis, reasons for previous analysis failure, and lessons learned are presented.
GENETICS IN MEDICINE
(2023)
Biographical-Item
Clinical Neurology
Huw R. Morris, Andrew J. Lees
MOVEMENT DISORDERS
(2023)
Article
Genetics & Heredity
Laura S. Kremer, Lyuba V. Bozhilova, Diana Rubalcava-Gracia, Roberta Filograna, Mamta Upadhyay, Camilla Koolmeister, Patrick F. Chinnery, Nils-Goran Larsson
Summary: In this study, the role of autophagy in germline purifying selection of mtDNA was investigated by mating different autophagy-deficient mouse models with mice carrying a pathogenic tRNA(Ala) gene mutation. The results showed that Bcl2l13 had a significant effect on the selection process, while Ulk1 and Ulk2 had weaker effects, and Parkin had no statistically significant impact. This study provides experimental evidence for the distinct roles of autophagy in germline purifying selection of mtDNA and establishes a framework for future studies on this process.
Biographical-Item
Clinical Neurology
Huw R. Morris, Andrew J. Lees
MOVEMENT DISORDERS CLINICAL PRACTICE
(2023)
Article
Clinical Neurology
Duncan Street, Edwin Jabbari, Alyssa Costantini, P. Simon Jones, Negin Holland, Timothy Rittman, Marte T. Jensen, Viorica Chelban, Yen Y. Goh, Tong Guo, Amanda J. Heslegrave, Federico Roncaroli, Johannes C. Klein, Olaf Ansorge, Kieren S. J. Allinson, Zane Jaunmuktane, Tamas Revesz, Thomas T. Warner, Andrew J. Lees, Henrik Zetterberg, Lucy L. Russell, Martina Bocchetta, Jonathan D. Rohrer, David J. Burn, Nicola Pavese, Alexander Gerhard, Christopher Kobylecki, P. Nigel Leigh, Alistair Church, Michele T. M. Hu, Henry Houlden, Huw Morris, James B. Rowe
Summary: The study compares candidate clinical trial end points in progressive supranuclear palsy, multiple system atrophy, corticobasal syndrome and related disorders. Neuroimaging metrics generally require smaller sample sizes than cognitive and functional measures, but the optimal outcome measures differ by disease type.
Article
Neurosciences
Zhongbo Chen, Regina H. Reynolds, Antonio F. Pardinas, Sarah A. Gagliano Taliun, Wouter van Rheenen, Kuang Lin, Aleksey Shatunov, Emil K. Gustavsson, Isabella Fogh, Ashley R. Jones, Wim Robberecht, Philippe Corcia, Adriano Chio, Pamela J. Shaw, Karen E. Morrison, Jan H. Veldink, Leonard H. van den Berg, Christopher E. Shaw, John F. Powell, Vincenzo Silani, John A. Hardy, Henry Houlden, Michael J. Owen, Martin R. Turner, Mina Ryten, Ammar Al-Chalabi
Summary: This study found that Neanderthal DNA introgression does not contribute to the genetic risk of neurodegenerative disorders in anatomically-modern humans. Additionally, there is no evidence to support the idea that common variants associated with these disorders are maintained by natural selection. These findings provide valuable insights into the origins of neurodegenerative diseases and address longstanding debates.
NEUROBIOLOGY OF DISEASE
(2023)
Article
Clinical Neurology
Patrick W. Cullinane, Riona Fumi, Marte Theilmann Jensen, Edwin Jabbari, Thomas T. Warner, Tamas Revesz, Huw R. Morris, Jonathan D. Rohrer, Zane Jaunmuktane
MOVEMENT DISORDERS CLINICAL PRACTICE
(2023)
Article
Clinical Neurology
Bendik Winsvold, Aster V. E. A. Harder, Caroline Ran, Mona Chalmer, Maria Carolina Dalmasso, Egil Ferkingstad, Kumar Parijat Tripathi, Elena Bacchelli, Sigrid Borte, Carmen S. Fourier, Anja H. Petersen, Lisanne Vijfhuizen, Sigurdur Magnusson, Emer O'Connor, Gyda Bjornsdottir, Paavo Happola, Yen-Feng Wang, Ida Callesen, Tim Kelderman, Victor J. Gallardo, Irene de Boer, Felicia Jennysdotter Olofsgard, Katja Heinze, Nunu Lund, Laurent F. Thomas, Chia-Lin Hsu, Matti Pirinen, Heidi Hautakangas, Marta Ribases, Simona Guerzoni, Prasanth Sivakumar, Janice Yip, Axel Heinze, Fahri B. Kucukali, Sisse S. Ostrowski, Ole E. Pedersen, Espen S. Kristoffersen, Amy E. Martinsen, Maria S. Artigas, Susie Lagrata, Maria Michela Cainazzo, Joycee Adebimpe, Olivia Quinn, Carl E. Goebel, Anna Cirkel, Alexander Volk, Stefanie E. Heilmann-Heimbach, Anne Heidi Skogholt, Maiken E. Gabrielsen, Leopoldine A. Wilbrink, Daisuke Danno, Dwij R. Mehta, Daniel F. Guobjartsson, Frits R. Rosendaal, Ko Willems van Dijk, Rolf A. Fronczek, Michael Wagner, Martin Scherer, Hartmut A. Goebel, Kristel Sleegers, Olafur Sveinsson, Luca Pani, Michele Zoli, Josep A. Ramos-Quiroga, Efthimios Dardiotis, Anna Steinberg, Steffi Riedel-Heller, Christina Sjostrand, Thorgeir E. Thorgeirsson, Hreinn Stefansson, Laura Southgate, Richard C. Trembath, Jana Vandrovcova, Raymond Noordam, Koen H. Paemeleire, Kari Stefansson, Cathy Shen-Jang Fann, Elisabet Waldenlind, Erling Tronvik, Rigmor H. Jensen, Shih-Pin Chen, Henry Houlden, Gisela C. Terwindt, Christian Kubisch, Elena Maestrini, Michail Vikelis, Patricia Pozo-Rosich, Andrea C. Belin, Manjit Matharu, Arn M. J. M. van den Maagdenberg, Thomas F. Hansen, Alfredo Ramirez, John-Anker Zwart
Summary: This first genomewide association study meta-analysis provides clues to the biological basis of cluster headache and identifies smoking as a causal risk factor.
ANNALS OF NEUROLOGY
(2023)
Review
Clinical Neurology
Yee Yen Goh, Emma Saunders, Samantha Pavey, Emma Rushton, Niall Quinn, Henry Houlden, Viorica Chelban
Summary: This article is a practical guide to diagnosing and managing multiple system atrophy (MSA). It explains the newly published Movement Disorders Society Consensus Diagnostic Criteria, which aim to reduce time to diagnosis. The key clinical features of MSA are highlighted to aid in diagnosis. The article also discusses practical symptom management and improving quality of life for people with MSA.
PRACTICAL NEUROLOGY
(2023)