Article
Clinical Neurology
Grace A. Bailey, Anna Rawlings, Fatemeh Torabi, William Owen Pickrell, Kathryn J. Peall
Summary: This study reveals a higher rate of psychiatric diagnoses and prescriptions in individuals diagnosed with idiopathic dystonia compared to controls. There may be a bidirectional relationship between idiopathic dystonia and psychiatric disorders, particularly mood disorders.
EUROPEAN JOURNAL OF NEUROLOGY
(2022)
Review
Clinical Neurology
Martje E. van Egmond, Tjerk J. Lagrand, Gintaute Lizaitiene, Marenka Smit, Marina A. J. Tijssen
Summary: Adult-onset dystonia can be acquired, inherited or idiopathic. Recent advances in neuroimmunology and genetic diagnostics have increased our understanding of the disease. To ensure early diagnosis and prevent unnecessary investigations, a new five-step diagnostic approach has been designed. The approach focuses on early identification of treatable forms of dystonia, both acquired and genetic. This novel diagnostic method can aid clinicians in deciding when to perform additional tests, including genetic testing, and facilitate timely treatment.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2022)
Article
Neurosciences
Sotirios Grigoriou, Elena Espa, Per Odin, Jonathan Timpka, Gustaf von Grothusen, Andreas Jakobsson, M. Angela Cenci
Summary: This study aimed to compare the temporal and topographic profiles of abnormal involuntary movements (AIMs) in Parkinson's disease patients under treatment with L-DOPA and the dopamine agonist ropinirole. The results showed that the combination of L-DOPA and ropinirole resulted in lower peak severity but longer duration of AIMs. This study paves the way for the introduction of a combined L-DOPA-ropinirole challenge test in the early clinical evaluation of antidyskinetic treatments.
Article
Clinical Neurology
Sanjay Pandey, Juho Joutsa, Raja Mehanna, Aparna Wagle Shukla, Federico Rodriguez-Porcel, Alberto J. Espay
Summary: Poststroke movement disorders (PSMDs) are a common cause of secondary movement disorders. However, there are many knowledge gaps in terms of clinical definitions, stroke symptom latencies, and biomarkers for vulnerability for or resilience against developing PSMDs. After summarizing the existing evidence, a roadmap for future research is proposed to fill these gaps and resolve the related controversies. Further research is needed in the phenomenology, classification, diagnostic criteria, and pathophysiology of PSMDs, as well as the development of treatment guidelines.
MOVEMENT DISORDERS
(2022)
Review
Genetics & Heredity
Mario Mastrangelo, Manuela Tolve, Cristiana Artiola, Rossella Bove, Claudia Carducci, Carla Carducci, Antonio Angeloni, Francesco Pisani, Vincenzo Leuzzi
Summary: Inherited disorders of biogenic amine metabolism are genetically determined conditions that result in dysfunctions or lack of enzymes involved in the synthesis, degradation, or transport of certain neurotransmitters. They present as a group of treatable diseases characterized by complex movement disorders, developmental delay, and autonomic dysregulation. Diagnosis relies on measuring neurotransmitter metabolites in cerebrospinal fluid, and traditional pharmacological strategies are not effective in modifying the disease. Gene therapy has shown promising results in certain types of these disorders. However, the rarity of these diseases and limited knowledge often lead to misdiagnosis or diagnostic delays.
Article
Multidisciplinary Sciences
Andreas Horn, Martin M. Reich, Siobhan Ewert, Ningfei Li, Bassam Al-Fatly, Florian Lange, Jonas Roothans, Simon Oxenford, Isabel Horn, Steffen Paschen, Joachim Runge, Fritz Wodarg, Karsten Witt, Robert C. Nickl, Matthias Wittstock, Gerd-Helge Schneider, Philipp Mahlknecht, Werner Poewe, Wilhelm Eisner, Ann-Kristin Helmers, Cordula Matthies, Joachim K. Krauss, Gunther Deuschl, Jens Volkmann, Andrea A. Kuhn
Summary: This study retrospectively investigated the clinical results of deep brain stimulation (DBS) for cervical and generalized dystonia in 80 patients. The researchers modeled the optimal stimulation sites based on imaging and found that the optimal treatment for cervical dystonia involved modulation of the striatopallidofugal axis, while pallidothalamic bundles were responsible for optimal treatment of generalized dystonia. Additionally, the study showed a common network substrate in the form of connectivity to the cerebellum and somatomotor cortex for both types of dystonia.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2022)
Article
Clinical Neurology
Emma A. Honkanen, Jaana Roenkae, Eero Pekkonen, Juho Aaltonen, Maija Koivu, Olli Eskola, Hazem Eldebakey, Jens Volkmann, Valtteri Kaasinen, Martin M. Reich, Juho Joutsa
Summary: Deep brain stimulation (DBS) of the globus pallidus interna (GPi) can significantly improve symptoms of cervical dystonia. This study used brain metabolic imaging to investigate the effects of GPi-DBS on brain metabolism in cervical dystonia. The results showed that GPi-DBS increases metabolic activity at the stimulation site and is related to modulation of specific networks. The study also found a strong correlation between stimulation amplitude and metabolic activity.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2023)
Review
Food Science & Technology
Merete Bakke
Summary: The review discusses the medical treatments using botulinum neurotoxin in the orofacial region, focusing on dystonia and sialorrhea as the most common and safest indications for dentists. It emphasizes the importance of accurate diagnosis, precise injection targeting, measuring treatment effect, and oral health control to prevent side effects.
Review
Clinical Neurology
Claire L. MacIver, Chantal M. W. Tax, Derek K. Jones, Kathryn J. Peall
Summary: This review summarizes the methodological approaches used in structural brain imaging studies of dystonia cohorts and identifies commonly implicated pathways, networks, or regions in pathogenesis. The findings suggest microstructural brain changes in individuals diagnosed with dystonia, although the underlying nature of these changes remains unknown. The use of techniques such as multiple diffusion weightings or multi-exponential relaxometry has the potential to enhance understanding of these differences.
EUROPEAN JOURNAL OF NEUROLOGY
(2022)
Review
Clinical Neurology
Jatinder Singh, Evamaria Lanzarini, Nardo Nardocci, Paramala Santosh
Summary: This systematic review identified and thematically appraised clinical evidence of movement disorders in patients with Rett syndrome (RTT). Six themes emerged from the thematic analysis, including clinical features of abnormal movement behaviors, mutational profile and its impact on movement disorders, symptoms and stressors that impact on movement disorders, possible underlying neurobiological mechanisms, quality of life and movement disorders, and treatment of movement disorders.
PSYCHIATRY AND CLINICAL NEUROSCIENCES
(2021)
Article
Clinical Neurology
Xian Qiu, Yuhan Wang, Zhengyu Lin, Yunhao Wu, Wenying Xu, Yiwen Wu, Bomin Sun, Keyoumars Ashkan, Chencheng Zhang, Dianyou Li
Summary: The study evaluated patient preferences and satisfaction with rechargeable and non-rechargeable batteries for IPGs after DBS treatment. Most patients were satisfied with the treatment and implanted device, with economic factors influencing their choice of battery. Confidence in recharging the battery was high among patients with r-IPGs, but more training sessions may be needed to improve understanding of the process.
FRONTIERS IN NEUROLOGY
(2021)
Article
Orthopedics
J. Gray, M. Welck, N. P. Cullen, D. Singh
Summary: Patients with functional dystonia typically present with a rapid onset of fixed deformity and pain out of proportion to the deformity. Referral to a neurologist for ruling out neurological pathology is recommended, with further management in a movement disorder clinic. Response to treatment, including Botulinum toxin injections, is generally poor. Surgery is not recommended and may worsen the condition in this patient group, with an overall poor prognosis.
BONE & JOINT JOURNAL
(2021)
Review
Clinical Neurology
Alessio Di Fonzo, Alberto Albanese, Hyder A. Jinnah
Summary: The genetic causes of dystonia share common underlying mechanisms, including dysregulation in neurotransmitter signaling, gene transcription, and quality control machinery. Recent findings also include forms associated with endolysosomal dysfunction. Discovering these shared biological pathways is an important breakthrough in understanding the underlying mechanisms and clinical phenomenology of dystonia.
CURRENT OPINION IN NEUROLOGY
(2022)
Article
Pediatrics
Khalid A. Alhasan, Walaa Alshuaibi, Muddathir H. Hamad, Suha Salim, Dima Z. Jamjoom, Aqeela H. Alhashim, Malak Ali AlGhamdi, Amal Y. Kentab, Fahad A. Bashiri
Summary: This study presents a case series of three patients with hypermanganesemia with dystonia type 2, genetically confirmed to be secondary to a mutation in the SLC39A14 gene. The results show that chelation therapy using calcium disodium edetate can improve the clinical course of the disease. Early diagnosis and treatment are crucial for improving the outcomes of patients with treatable neurodegenerative disorders.
Article
Clinical Neurology
Belen Perez-Duenas, Kathleen Gorman, Anna Marce-Grau, Juan D. Ortigoza-Escobar, Alfons Macaya, Federica R. Danti, Katy Barwick, Apostolos Papandreou, Joanne Ng, Esther Meyer, Shekeeb S. Mohammad, Martin Smith, Francesco Muntoni, Pinki Munot, Johanna Uusimaa, Paivi Vieira, Eammon Sheridan, Renzo Guerrini, Jan Cobben, Sanem Yilmaz, Elisa De Grandis, Russell C. Dale, Roser Pons, Kathryn J. Peall, Vincenzo Leuzzi, Manju A. Kurian
Summary: This study delineates the genetic landscape and key clinical characteristics of complex, early-onset, monogenic hyperkinetic movement disorders, highlighting the importance of comprehensive analysis in guiding physicians for genetic investigation, early diagnosis, precision treatment, and genetic counseling.
MOVEMENT DISORDERS
(2022)
Article
Clinical Neurology
G. Tamas, C. Abrantes, A. Valadas, P. Radics, A. Albanese, M. A. J. Tijssen, J. J. Ferreira
EUROPEAN JOURNAL OF NEUROLOGY
(2018)
Editorial Material
Clinical Neurology
Alberto Albanese
MOVEMENT DISORDERS
(2018)
Review
Clinical Neurology
A. Albanese, M. Di Giovanni, S. Lalli
EUROPEAN JOURNAL OF NEUROLOGY
(2019)
Article
Clinical Neurology
Alberto Albanese, Antoniangela Cocco, Paolo Milani, Stefania Lalli, Giovanni Palladini
PARKINSONISM & RELATED DISORDERS
(2020)
Letter
Clinical Neurology
Antoniangela Cocco, Paolo Amami, Antonio Desai, Antonio Voza, Fabio Ferreli, Alberto Albanese
JOURNAL OF NEUROLOGY
(2021)
Article
Clinical Neurology
Tommaso Ercoli, Giovanni Defazio, Christian Geroin, Enrico Marcuzzo, Giovanni Fabbrini, Francesco Bono, Alessandro Mechelli, Roberto Ceravolo, Luigi Michele Romito, Alberto Albanese, Antonio Pisani, Maurizio Zibetti, Maria Concetta Altavista, Luca Maderna, Martina Petracca, Paolo Girlanda, Marcello Mario Mascia, Alfredo Berardelli, Michele Tinazzi
Summary: The study identified clinical features such as sudden onset of dystonia, evidence of fixed dystonia, and history of acute peripheral trauma as key clues for diagnosing functional dystonia. A diagnostic algorithm was developed to reduce the risk of misclassifying functional dystonia, showing 85% sensitivity and 98% specificity when a combination of variables was used. These findings extend the current diagnostic approach to functional dystonia and provide important insights for physicians to distinguish functional dystonia from idiopathic dystonia.
MOVEMENT DISORDERS CLINICAL PRACTICE
(2021)
Editorial Material
Clinical Neurology
Alberto Albanese
CLINICAL NEUROPHYSIOLOGY
(2021)
Review
Clinical Neurology
Paolo Tornese, Stefania Lalli, Antoniangela Cocco, Alberto Albanese
Summary: This study analysed clinical trials of pharmacological interventions on patients with ALS and compared study quality and design features. The findings suggest that functional decline and survival are the reference endpoints, and the primary endpoints included functional assessment, survival, muscle strength, respiratory function, biomarkers, and composite measures. The study also provides cues for the design of future trials.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2022)
Review
Neurosciences
Kareem Khalaf, Paolo Tornese, Antoniangela Cocco, Alberto Albanese
Summary: Most neurodegenerative disorders are protein homeostasis diseases, and TUDCA has shown potential therapeutic use in these diseases by exerting anti-apoptotic and neuroprotective activities through various mechanisms.
TRANSLATIONAL NEURODEGENERATION
(2022)
Review
Clinical Neurology
Andrea Vergallo, Antoniangela Cocco, Tiziana De Santis, Stefania Lalli, Alberto Albanese
Summary: This study aimed to analyze the diagnostic and patient enrollment strategies in clinical trials for CD, finding a lack of consolidated diagnostic criteria and non-uniformity of eligibility criteria.
PARKINSONISM & RELATED DISORDERS
(2022)
Review
Clinical Neurology
Alberto Albanese, Kailash P. Bhatia, Francisco Cardoso, Cynthia Comella, Giovanni Defazio, Victor S. C. Fung, Mark Hallett, Joseph Jankovic, Hyder A. Jinnah, Ryuji Kaji, Joachim K. Krauss, Anthony Lang, Eng King Tan, Marina A. J. Tijssen, Marie Vidailhet
Summary: This document provides a consensus on the diagnosis and classification of isolated cervical dystonia (iCD) and proposes diagnostic criteria and classification. It aims to systematize terminology and the diagnostic process for reproducibility and applicability. The criteria include motor abnormalities and nonmotor manifestations, and three iCD presentations are described. The relationship between iCD and isolated head tremor is also discussed. Continuous revision of the criteria is necessary as knowledge of iCD expands.
MOVEMENT DISORDERS
(2023)
Article
Clinical Neurology
Tiziana De Santis, Valentina Serpieri, Tommaso Mazza, Michele Lanotte, Carlotta Criffo, Tommaso Mazza, Enza Maria Valente, Alberto Albanese
MOVEMENT DISORDERS CLINICAL PRACTICE
(2023)
Article
Pharmacology & Pharmacy
Maria Lo Giudice, Antoniangela Cocco, Giorgio Reggiardo, Stefania Lalli, Alberto Albanese
Summary: This review examines the evidence on the efficacy and safety of tauro-urso-deoxycholic acid (TUDCA) in amyotrophic lateral sclerosis patients. Phase II studies have shown that TUDCA is effective in slowing disease progression and has no safety concerns. Ongoing phase III studies are expected to provide further data on the efficacy of TUDCA.
CLINICAL DRUG INVESTIGATION
(2023)
Editorial Material
Clinical Neurology
Alberto Albanese
MOVEMENT DISORDERS CLINICAL PRACTICE
(2021)
Article
Clinical Neurology
Daniela Perani, Stefania Lalli, Leonardo Iaccarino, Pierpaolo Alongi, Orsola Gambini, Angelo Franzini, Alberto Albanese
MOVEMENT DISORDERS CLINICAL PRACTICE
(2018)
