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
Clinical Neurology
Francisco J. Navas-Sanchez, Luis Marcos-Vidal, Daniel Martin de Blas, Alberto Fernandez-Pena, Yasser Aleman-Gomez, Juan A. Guzman-de-Villoria, Julia Romero, Irene Catalina, Laura Lillo, Jose L. Munoz-Blanco, Andres Ordonez-Ugalde, Beatriz Quintans, Maria-Jesus Sobrido, Susanna Carmona, Francisco Grandas, Manuel Desco
Summary: This study assessed the spinal cord characteristics of SPG4 patients using diffusion tensor imaging (DTI) and structural analysis. The results showed that SPG4 patients had reduced cross-sectional area and anteroposterior flattening in the spinal cord, as well as changes in diffusion characteristics. These findings were correlated with the severity of motor disability.
JOURNAL OF NEUROLOGY
(2022)
Review
Clinical Neurology
Simone Aloisio, Sara Satolli, Gabriele Bellini, Piervito Lopriore
Summary: Parkinsonism is a syndrome characterized by bradykinesia accompanied by rest tremor, rigidity, or both. It is commonly seen in Parkinson's disease and atypical parkinsonian disorders. However, it can also be a manifestation of complex neurogenetic diseases. Understanding the clinical features of parkinsonism in adult-onset neurogenetic diseases is important for understanding pathophysiological mechanisms and for clinical diagnosis and treatment.
NEUROLOGICAL SCIENCES
(2023)
Article
Clinical Neurology
Alisa Mo, Afshin Saffari, Melanie Kellner, Marion Dobler-Neumann, Catherine Jordan, Siddharth Srivastava, Bo Zhang, Mustafa Sahin, John K. Fink, Linsley Smith, Jennifer E. Posey, Katharine E. Alter, Camilo Toro, Craig Blackstone, Ariane G. Soldatos, Michelle Christie, Rebecca Schule, Darius Ebrahimi-Fakhari
Summary: This study delineates the genotypic and phenotypic spectrum of children with de novo hereditary spastic paraplegia (HSP)-SPAST. The results confirm that de novo variants in SPAST lead to a severe and complex form of HSP that is different from classic familial pure HSP-SPAST. Clinicians should consider this syndrome in the differential diagnosis for cerebral palsy.
MOVEMENT DISORDERS
(2022)
Article
Clinical Neurology
Claudia Dosi, Rosa Pasquariello, Chiara Ticci, Guja Astrea, Rosanna Trovato, Anna Rubegni, Alessandra Tessa, Giovanni Cioni, Filippo Maria Santorelli, Roberta Battini
Summary: HSPs are a genetically and clinically diverse group of neurodegenerative disorders characterized by progressive spasticity of the lower limbs. MRI can help in excluding mimicking disorders and guiding genetic testing.
JOURNAL OF THE NEUROLOGICAL SCIENCES
(2021)
Article
Rehabilitation
Pauline Lallemant-Dudek, Livia Parodi, Giulia Coarelli, Anna Heinzmann, Perrine Charles, Claire Ewenczyk, Silvia Fenu, Marie-Lorraine Monin, Philippe Corcia, Christel Depienne, Fanny Mochel, Jean Benard, Sophie Tezenas du Montcel, Alexandra Durr
Summary: This study aimed to describe the clinical variability in hereditary spastic paraparesis from the person's perspective and identify individual and environmental factors that influence muscle tone disorders and derive interventions which could improve spasticity.
ANNALS OF PHYSICAL AND REHABILITATION MEDICINE
(2023)
Article
Neurosciences
Vittorio Riso, Salvatore Rossi, Tommaso F. Nicoletti, Alessandra Tessa, Lorena Travaglini, Ginevra Zanni, Chiara Aiello, Alessia Perna, Melissa Barghigiani, Maria Grazia Pomponi, Filippo M. Santorelli, Gabriella Silvestri
Summary: The study retrospectively evaluated the molecular diagnostic rate of Hereditary Spastic Paraplegias (HSP) and inherited cerebellar ataxias (CA) in 192 unrelated families in a third-level reference center, indicating that the diagnostic rate of HSP and CA is influenced by patient selection and suggesting the important role of experienced clinicians in diagnostic assessment and clinical research.
Article
Multidisciplinary Sciences
Tobias Lindig, Benjamin Bender, Eva Buerkle, Vinod Kumar, Ulrike Ernemann, Ludger Schoels, Tim W. Rattay
Summary: This study tested the usability of automated data analysis in patients with hereditary spastic paraplegia type 4 (SPG4). The results showed that quantitative imaging reports can serve as easily accessible and fully automatic screening tools for clinicians, providing information about brain regions affected by the disease.
SCIENTIFIC REPORTS
(2022)
Article
Clinical Neurology
Ross Pointon, Hannah Whelan, Rushna Raza, Sharron Peacock, Catherine Wilsmore, Andie Mulkeen, John Goodden, Rajib Lodh
Summary: This case series evaluates the use and effectiveness of Intra-thecal Baclofen (ITB) on 5 ambulant children with Hereditary Spastic Paraparesis (HSP). The results suggest that ITB can reduce spasticity, improve quality of life and help patients achieve their personalized goals without major adverse effects.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
(2022)
Article
Clinical Neurology
Songmei Chen, Zhiqing Zhou, Meng Ren, Xixi Chen, Xiaolong Shi, Sicong Zhang, Shutian Xu, Xiaolin Zhang, Xingyuan Zhang, Wanlong Lin, Chunlei Shan
Summary: This study reports a case of SPG11-HSP that was treated with high-frequency rTMS (HF-rTMS) at the primary motor cortex (M1), resulting in improvement of lower extremity spasticity and gait instability. Clinical and physiological measurements showed the potential of rTMS to promote neurological recovery from both functional and structural perspectives. This provides a clinical rationale for using rTMS in the rehabilitation of HSP patients.
FRONTIERS IN NEUROLOGY
(2023)
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)
Article
Genetics & Heredity
Ines A. Cunha, Joana A. Ribeiro, Maria Cj Santos
Summary: In this study, a cohort of 61 HSP patients was described, with most patients presenting with a pure phenotype. 52.4% had a confirmed genetic diagnosis, showing differences between genotypes. Most patients were still able to walk independently and engage in rehabilitation programs.
EUROPEAN JOURNAL OF MEDICAL GENETICS
(2022)
Article
Pediatrics
Christina Bickley, Katy Mitchell, Allison Scott, Meredith Bury, Mayowa Oyelami
Summary: The study found that the majority of physical therapists were unfamiliar with HSP and had not received training on HSP or its associated gait deviations. However, after receiving brief instruction, diagnostic accuracy increased by 21.7% in the whole group and significant improvement was seen in 14 out of 20 individual cases. This suggests that education on common upper body gait deviations in individuals with HSP can enhance a clinician's ability to differentiate between SD-CP and HSP through gait analysis.
PHYSICAL & OCCUPATIONAL THERAPY IN PEDIATRICS
(2021)
Article
Clinical Neurology
Nouf Alfaidia, Turki Sobahyb, Qurban Alia, Youssef Al Saida, Gulzar Karima, Haji Khana, Khalil Kurdic, Edward Cuplera
Summary: This retrospective study reported abnormal prVEPs in 81.82% of patients with SPG11 ARHSP-TCC, indicating significantly prolonged P100 bilaterally.
JOURNAL OF THE NEUROLOGICAL SCIENCES
(2022)
Review
Clinical Neurology
P. Lallemant-Dudek, A. Durr
Summary: Hereditary spastic paraparesis is a group of inherited neurological diseases with wide genetic heterogeneity, characterized by complex etiology and the need for further research on treatment methods. Symptomatic treatments are available but require randomized controlled trials to validate their efficacy.
REVUE NEUROLOGIQUE
(2021)
Article
Neurosciences
Chiara Marzi, Alessandro d'Ambrosio, Stefano Diciotti, Alvino Bisecco, Manuela Altieri, Massimo Filippi, Maria Assunta Rocca, Loredana Storelli, Patrizia Pantano, Silvia Tommasin, Rosa Cortese, Nicola De Stefano, Gioacchino Tedeschi, Antonio Gallo
Summary: This study used machine learning techniques to assess the relationship between brain MRI structural volumes and cognitive deficits in MS patients, and found that damage to gray matter structures is most closely related to cognitive performance.
HUMAN BRAIN MAPPING
(2023)
Article
Clinical Neurology
Elisabetta Pagani, Loredana Storelli, Patrizia Pantano, Nikolaos Petsas, Gioacchino Tedeschi, Antonio Gallo, Nicola De Stefano, Marco Battaglini, Maria A. Rocca, Massimo Filippi
Summary: In patients with multiple sclerosis, the determination of brain atrophy in specific regions is clinically relevant. However, analyzing large datasets is challenging due to the increased variability in multicenter data. This study compared different methods to correct for center effects and investigated regional gray matter volume in patients with relapsing-remitting multiple sclerosis using a large multicenter dataset. The results showed that harmonization based on subsampling effectively reduced the residuals of the statistical model applied, and the multicenter results were more robust compared to findings from single-center analysis, highlighting the importance of data repositories from multiple centers.
JOURNAL OF NEUROLOGY
(2023)
Article
Neurosciences
Muhammad Abubakar Yamin, Paola Valsasina, Jacopo Tessadori, Massimo Filippi, Vittorio Murino, Maria A. Rocca, Diego Sona
Summary: Multiple sclerosis (MS) is a neurological condition characterized by brain damage and reorganization of brain networks. This article describes a system that uses machine learning to classify different MS phenotypes and identify relevant functional connections. The proposed framework shows significant classification performance for all MS phenotypes and successfully identifies relevant alterations in functional connectivity.
HUMAN BRAIN MAPPING
(2023)
Article
Biochemistry & Molecular Biology
Elena Berrone, Giovanna Chiorino, Francesca Guana, Valerio Benedetti, Claudia Palmitessa, Marina Gallo, Andrea Calvo, Federico Casale, Umberto Manera, Alessandra Favole, Paola Crociara, Camilla Testori, Valerio Carta, Carlotta Tessarolo, Antonio D'Angelo, Giovanni De Marco, Maria Caramelli, Adriano Chio, Cristina Casalone, Cristiano Corona
Summary: ALS is a complex disease with delayed diagnosis and limited therapeutic options. The SOMAscan assay was used to identify differential expression of proteins in ALS patients, and 42 proteins were found to be significantly different. Four upregulated proteins were selected and validated in an overlapping cohort of patients. These proteins may provide insight into ALS pathogenesis and serve as potential candidates for targeted therapies.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Radiology, Nuclear Medicine & Medical Imaging
Loredana Storelli, Elisabetta Pagani, Patrizia Pantano, Claudia Piervincenzi, Gioacchino Tedeschi, Antonio Gallo, Nicola De Stefano, Marco Battaglini, Maria A. Rocca, Massimo Filippi, INNI Network
Summary: This study compared different methods for measuring whole-brain and gray matter atrophy using the INNI dataset, and found that SPM-v12 and Jim-v8 software showed significant agreement in assessing gray matter volumes and atrophy progression.
JOURNAL OF MAGNETIC RESONANCE IMAGING
(2023)
Review
Clinical Neurology
Angela Genge, Adriano Chio
Summary: Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder with difficulties in diagnosis and prognosis assessment. This article provides a clinical overview of balancing evidence-based medicine and patient needs, as well as explores factors to improve diagnostic efficiency and assessment of disease progression.
AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION
(2023)
Article
Clinical Neurology
Massimo Filippi, Giordano Cecchetti, Annachiara Cagnin, Camillo Marra, Flavio Nobili, Lucilla Parnetti, Federica Agosta
Summary: Currently, no disease-modifying therapies are available for Alzheimer's disease (AD) in Europe. However, evidence from clinical trials suggests that anti-beta amyloid (Aβ) monoclonal antibodies (mAbs) may be authorized for marketing in the near future. A group of prominent AD clinical experts in Italy met to discuss patient selection and management strategies, recognizing the need for significant changes in dementia care to implement disease-modifying therapies. They emphasized the importance of a biological diagnosis using amyloid- and tau-related biomarkers, as well as specialized diagnostic work-up and exclusion criteria assessment by neurology specialists. The experts also proposed a reorganization of dementia and cognitive decline centers into three levels with defined tasks and requirements.
JOURNAL OF NEUROLOGY
(2023)
Article
Clinical Neurology
Matteo Azzimonti, Paolo Preziosa, Elisabetta Pagani, Paola Valsasina, Nicolo Tedone, Carmen Vizzino, Maria A. A. Rocca, Massimo Filippi
Summary: This study applied a longitudinal multiparametric MRI approach to investigate the mechanisms associated with cognitive worsening in MS patients. The results suggest that GM atrophy progression and functional impoverishment may be the main factors underlying cognitive worsening in MS.
JOURNAL OF NEUROLOGY
(2023)
Article
Clinical Neurology
Monica Margoni, Elisabetta Pagani, Paolo Preziosa, Mor Gueye, Matteo Azzimonti, Maria A. Rocca, Massimo Filippi
Summary: This study used multimodal MRI to investigate the regional distribution of different pathological processes in the brain white and gray matter of relapse-onset multiple sclerosis (MS) patients. The results showed that compared to healthy controls, relapsing-remitting MS (RRMS) patients exhibited white matter, deep gray matter, and cortical atrophy, as well as significantly lower MTR and T1w/T2w ratio in periventricular and infratentorial white matter, deep gray matter, and several cortical areas. Secondary progressive MS (SPMS) patients showed more severe deep gray matter and widespread cortical atrophy, lower MTR of periventricular white matter, deep gray matter, and cerebellum, lower T1w/T2w ratio of fronto-temporal white matter regions, lower ICV_f of some fronto-tempo-occipital white matter and cortical areas, and increased QSM and T1w/T2w ratio in the pallidum.
JOURNAL OF NEUROLOGY
(2023)
Article
Radiology, Nuclear Medicine & Medical Imaging
Piet M. Bouman, Samantha Noteboom, Fernando A. Nobrega Santos, Erin S. Beck, Gregory Bliault, Marco Castellaro, Massimiliano Calabrese, Declan T. Chard, Paul Eichinger, Massimo Filippi, Matilde Inglese, Caterina Lapucci, Andrzej Marciniak, Bastiaan Moraal, Alfredo Morales Pinzon, Mark Muehlau, Paolo Preziosa, Daniel S. Reich, Maria A. Rocca, MennoM. Schoonheim, Jos W. R. Twisk, Benedict Wiestler, Laura E. Jonkman, Charles R. G. Guttmann, Jeroen J. G. Geurts, Martijn D. Steenwijk
Summary: This study evaluated the detection ability of artificial intelligence-generated double inversion recovery (DIR) and phase-sensitive inversion recovery (PSIR) images for cortical and juxtacortical multiple sclerosis lesions in a multicenter setting, compared with MRI-acquired images. The results showed that the AI-generated images performed well compared to the MRI-acquired images and demonstrated good reliability in a multicenter setting, with good interpretative agreement between readers and centers.
Article
Geriatrics & Gerontology
Umberto Manera, Maurizio Grassano, Enrico Matteoni, Alessandro Bombaci, Rosario Vasta, Francesca Palumbo, Maria Claudia Torrieri, Paolo Cugnasco, Cristina Moglia, Antonio Canosa, Adriano Chio, Andrea Calvo
Summary: Respiratory failure is a common cause of death in ALS patients, and its occurrence varies among patients with different phenotypic features. Early predictors of respiratory failure are important to initiate NIV. In this study, serum chloride values at diagnosis were evaluated as prognostic biomarkers for overall survival and NIV adaptation in ALS patients. Analysis showed a significant correlation between serum chloride and various clinical features, and serum chloride value at diagnosis was found to significantly influence survival and time to NIV start. Serum chloride analyzed at diagnosis can serve as a low-cost marker for predicting respiratory decompensation in ALS patients.
FRONTIERS IN AGING NEUROSCIENCE
(2023)
Article
Clinical Neurology
Jeremy M. Shefner, Ammar Al-Chalabi, Jinsy A. Andrews, Adriano Chio, Mamede De Carvalho, Bettina M. Cockroft, Philippe Corcia, Philippe Couratier, Merit E. Cudkowicz, Angela Genge, Orla Hardiman, Terry Heiman-Patterson, Robert D. Henderson, Caroline Ingre, Carlayne E. Jackson, Wendy Johnston, Noah Lechtzin, Albert Ludolph, Nicholas J. Maragakis, Timothy M. Miller, Jesus S. Mora Pardina, Susanne Petri, Zachary Simmons, Leonard H. Van Den Berg, Lorne Zinman, Stuart Kupfer, Fady I. Malik, Lisa Meng, Tyrell J. Simkins, Jenny Wei, Andrew A. Wolff, Stacy A. Rudnicki
Summary: The objective of this study is to determine the target population and optimize the study design for the phase 3 clinical trial of reldesemtiv in ALS participants. The phase 2 study, FORTITUDE-ALS, showed that reldesemtiv had a significant effect on participants with intermediate and fast disease progression, leading to the implementation of specific eligibility criteria and design features in the phase 3 trial, COURAGE-ALS, to increase sensitivity in detecting treatment effects and reduce burden on participants and study sites.
AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION
(2023)
Article
Cardiac & Cardiovascular Systems
Lorenzo Rampa, Roberto Santangelo, Carlo Gaspardone, Alice Cerutti, Giuseppe Magnani, Francesco Piscazzi, Giulia Sgherzi, Giorgio Fiore, Massimo Filippi, Federica Agosta, Alberto Margonato, Gabriele Fragasso
Summary: AChE-I treatment in patients with dementia may reduce the risk of cardiovascular events, particularly heart failure and myocardial revascularization. The use of AChE-I in dementia patients may be protective for cardiovascular outcomes.
AMERICAN JOURNAL OF CARDIOLOGY
(2023)
Article
Clinical Neurology
Serena Ruggieri, Luca Prosperini, Sarmad Al-Araji, Pietro Osvaldo Annovazzi, Alvino Bisecco, Olga Ciccarelli, Nicola De Stefano, Massimo Filippi, Vinzenz Fleischer, Nikos Evangelou, Christian Enzinger, Antonio Gallo, Afagh Garjani, Sergiu Groppa, Shalom Haggiag, Michael Khalil, Matteo Lucchini, Massimiliano Mirabella, Xavier Montalban, Carlo Pozzilli, Paolo Preziosa, Jordi Rio, Maria A. Rocca, Alex Rovira, Maria L. Stromillo, Mauro Zaffaroni, Carla Tortorella, Claudio Gasperini
Summary: Early relapses and substantial MRI activity in the first year of treatment are associated with worse short-term outcomes in patients treated with some of the oral DMTs.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2023)
Article
Clinical Neurology
Roberto Teggi, Bruno Colombo, Federica Cugnata, Roberto Albera, Giacinto Asprella Libonati, Cristiano Balzanelli, Augusto Pietro Casani, Iacopo Cangiano, Marco Familiari, Sergio Lucisano, Marco Mandala, Giampiero Neri, Rudi Pecci, Mario Bussi, Massimo Filippi
Summary: The aim of this study was to collect phenotypes and clinical variability of 244 patients with vestibular migraine (VM) in order to differentiate subtypes. VM is a common episodic vertigo disorder with varying duration of attacks and accompanying symptoms. Diagnosis is mainly based on clinical history with associated migrainous headache or photo/phonophobia.
NEUROLOGICAL SCIENCES
(2023)