Article
Chemistry, Analytical
San-Ha Kim, Jae-Young Han, Min-Keun Song, In-Sung Choi, Hyeng-Kyu Park
Summary: Spinocerebellar ataxia (SCA) is a hereditary neurodegenerative disorder characterized by balance problems, and robotic exoskeleton gait training has been shown to improve balance, gait, and cardiopulmonary function in SCA patients.
Article
Clinical Neurology
Marina P. Hommersom, Teije H. van Prooije, Maartje Pennings, Meyke Schouten, Hans van Bokhoven, Erik-Jan Kamsteeg, Bart P. C. van de Warrenburg
Summary: Variants in the CACNA1A gene can lead to various phenotypes beyond the classic ataxia-related disorders, presenting challenges in neurogenetic diagnostics. Accessible functional read-outs are crucial for cases with non-classic phenotypes.
JOURNAL OF NEUROLOGY
(2022)
Article
Clinical Neurology
Winfried Ilg, Bjoern Mueller, Jennifer Faber, Judith van Gaalen, Holger Hengel, Ina R. Vogt, Guido Hennes, Bart van de Warrenburg, Thomas Klockgether, Ludger Schoels, Matthis Synofzik
Summary: Measures of step variability and body sway during gait have shown promise as motor biomarkers for assessing severity and progression of spinocerebellar ataxia. Further research is needed to validate and refine these measures for use in clinical trials and interventions.
MOVEMENT DISORDERS
(2022)
Article
Clinical Neurology
Vrutangkumar V. Shah, Roberto Rodriguez-Labrada, Fay B. Horak, James McNames, Hannah Casey, Kyra Hansson Floyd, Mahmoud El-Gohary, Jeremy D. Schmahmann, Liana S. Rosenthal, Susan Perlman, Luis Velazquez-Perez, Christopher M. Gomez
Summary: This study identified gait variability as the most discriminative feature of SCA, with measures like toe-out angle and double-support time variability showing high sensitivity and specificity. These variability measures were also correlated with disease severity, suggesting their potential utility as clinical trial outcome measures for both manifest and prodromal SCAs.
MOVEMENT DISORDERS
(2021)
Article
Cell Biology
Huan-Yun Chen, Chia-Lang Hsu, Han-Yi Lin, Yung-Feng Lin, Shih-Feng Tsai, Yu-Jung Ho, Ye-Ru Li, Jin-Wu Tsai, Shu-Chun Teng, Chin-Hsien Lin
Summary: A novel heterozygous frameshift variant in the STUB1 gene was identified in Taiwanese patients with autosomal dominant cerebellar ataxia, leading to the onset of SCA48. This mutation impairs the activity of the CHIP protein, causing neuronal protein accumulation and apoptosis, highlighting the importance of neuronal protein homeostasis in this disease. These findings offer insight into the pathogenesis of SCA48 and emphasize the role of CHIP activity in cerebellar functions.
JOURNAL OF BIOMEDICAL SCIENCE
(2021)
Article
Clinical Neurology
Vittorio Riso, Daniele Galatolo, Melissa Barghigiani, Serena Galosi, Alessandra Tessa, Ivana Ricca, Salvatore Rossi, Caterina Caputi, Ettore Cioffi, Vincenzo Leuzzi, Carlo Casali, Filippo M. Santorelli, Gabriella Silvestri
Summary: SCA21, a rare neurodegenerative disorder caused by TMEM240 gene mutations, was found in five patients from four unrelated families in this study. Clinical features include slowly progressive cerebellar ataxia and cognitive/psychiatric symptoms, with a recurrent p.Pro170Leu mutation detected in some families.
EUROPEAN JOURNAL OF NEUROLOGY
(2021)
Article
Neurosciences
Sarah C. Milne, Seok Hun Kim, Anna Murphy, Jane Larkindale, Jennifer Farmer, Ritchie Malapira, Mary Danoudis, Jessica Shaw, Tyagi Ramakrishnan, Fatemeh Rasouli, Eppie M. Yiu, Nellie Georgiou-Karistianis, Geneieve Tai, Theresa Zesiewicz, Martin B. Delatycki, Louise A. Corben
Summary: The study identified that FARS USS and BBS are highly responsive in detecting changes in individuals with FRDA, while the most suitable measure for therapeutic effects in children is DGI.
Article
Engineering, Biomedical
Akira Matsushima, Yoichi Maruyama, Noriaki Mizukami, Mikio Tetsuya, Minoru Hashimoto, Kunihiro Yoshida
Summary: A wearable curara (R) robot was validated in a single-arm study for people with degenerative cerebellar ataxia, showing rehabilitative effects on gait function comparable to therapist-assisted training.
BIOMEDICAL ENGINEERING ONLINE
(2021)
Article
Multidisciplinary Sciences
Siti Aminah, Fathul Huda, Uni Gamayani, Iin Pusparini, Mochammad Faisal Afif Mochyadin, Yunia Sribudiani, Norlinah Mohamed Ibrahim, Tri Hanggono Achmad
Summary: Spinocerebellar ataxia (SCA) is an autosomal dominant hereditary disease with progressive course and no causal therapy. Diagnostics remain challenging in Indonesia, where research on SCA is still limited. A study analyzing clinical and genetic patterns in patients from three families revealed diverse clinical and genetic profiles with progressive symptoms.
Article
Clinical Neurology
He Zhou, Hung Nguyen, Ana Enriquez, Louie Morsy, Michael Curtis, Timothy Piser, Christopher Kenney, Christopher D. Stephen, Anoopum S. Gupta, Jeremy D. Schmahmann, Ashkan Vaziri
Summary: The study utilized wearable sensors to objectively measure motor impairment in SCA patients during gait and balance assessments, distinguishing them from healthy controls. Linear regression models demonstrated moderate-to-strong correlation with SARA and BARS2 scores.
NEUROLOGICAL SCIENCES
(2022)
Article
Neurosciences
Patricia Aurea Andreucci Martins Bonilha, Beatriz Cassarotti, Thabata Emanuelle Martins Nunes, Helio Afonso Ghizoni Teive
Summary: This study reviews the historical aspects of frontal ataxia, highlights its clinical significance in the differential diagnosis of ataxias, and summarizes the main differences between primary ataxias (frontal, cerebellar, and sensory ataxia).
ARQUIVOS DE NEURO-PSIQUIATRIA
(2023)
Article
Neurosciences
Debora Beserra Vilar Moraes, Tacio Luis Cavalcante Coradine, Everton Vieira Lopes Silva, Manoel Alves Sobreira-Neto, Wilson Marques Jr, Livia Leite Goes Gitai, Vitor Tumas
Summary: This study aimed to investigate the prevalence of SCAs in a resource-limited region in northeastern Brazil and found that the minimum estimated prevalence of SCAs was similar to the worldwide average. It also demonstrated that simple and collaborative strategies could enhance the detection capacity of rare diseases in resource-limited settings.
Review
Biochemistry & Molecular Biology
Manuela Lima, Mafalda Raposo, Ana Ferreira, Ana Rosa Vieira Melo, Sara Pavao, Filipa Medeiros, Luis Teves, Carlos Gonzalez, Joao Lemos, Paula Pires, Pedro Lopes, David Valverde, Jose Gonzalez, Teresa Kay, Joao Vasconcelos
Summary: Machado-Joseph disease (MJD)/spinocerebellar ataxia type 3 (SCA3) is the most common autosomal dominant ataxia worldwide. The cohort of MJD mutation carriers in the Portuguese archipelago of the Azores has provided crucial information to the natural history of this disease and the identification of novel molecular biomarkers. This cohort is also important for the recruitment of trial participants for interventional studies.
Article
Biotechnology & Applied Microbiology
Massimiliano Pau, Micaela Porta, Chiara Pau, Paolo Tacconi, Angela Sanna
Summary: This study compared gait parameters of individuals with SCA 38 using computerized 3D gait analysis. The results showed that SCA 38 patients had significantly reduced speed, stride length, and duration of the swing phase, as well as increased step width and stance and double support phase durations compared to unaffected individuals. Analysis of joint kinematics revealed significant alterations during most part of the stance phase for hip joint and at pre-swing/swing phases for knee and ankle joints. A significantly reduced dynamic range of motion was also found in the knee and ankle joints of SCA 38 patients. These findings provide new insights into hip and knee kinematics for SCA 38 and may guide disease monitoring and rehabilitative interventions.
BIOENGINEERING-BASEL
(2023)
Article
Medicine, General & Internal
Hongfei Zhao, Nikolas Mata-Machado
Summary: In this article, a case of an eight-year-old boy with developmental delay and cerebellar symptoms related to a de novo eukaryotic elongation factor 2 (EEF2) mutation is presented. Previously, pathogenic mutations in EEF2 have been associated with spinocerebellar ataxia 26. However, three pediatric patients with de novo EEF2 mutations were recently discovered, displaying noncerebellar symptoms such as syndactyly, developmental delay, and behavioral issues. The patient in this study exhibited features similar to both adult patients with SCA26 and previous pediatric patients with de novo mutations.
CUREUS JOURNAL OF MEDICAL SCIENCE
(2022)
Article
Clinical Neurology
Marie Stoessel, Francois Lersy, Mylene Moris, Guillaume Bierry, Mathieu Anheim, Stephane Kremer, Sabrina Garnier-Kepka
Summary: This study evaluated the implementation of a dedicated MRI scanner for the management of patients with binocular diplopia in the emergency department. The results showed that the use of the MRI scanner improved the diagnostic performance of binocular diplopia and reduced patient's exposure to ionizing radiation without increasing turnaround time or emergency department length of stay.
JOURNAL OF NEURORADIOLOGY
(2023)
Article
Engineering, Biomedical
Flore Gouel, Kelly Timmerman, Philippe Gosset, Cedric Raoul, Mary Dutheil, Aurelie Jonneaux, Guillaume Garcon, Caroline Moreau, Veronique Danel-Brunaud, James Duce, Thierry Burnouf, Jean-Christophe Devedjian, David Devos
Summary: Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease with no cure. This study shows that heat-treated human platelet lysate may have neuroprotective effects in ALS models, suggesting it as a potential therapeutic approach.
Article
Biotechnology & Applied Microbiology
Liling Delila, Ouada Nebie, Nhi Thao Ngoc Le, Lassina Barro, Ming-Li Chou, Yu-Wen Wu, Naoto Watanabe, Masayasu Takahara, Luc Buee, David Blum, David Devos, Thierry Burnouf
Summary: This study evaluated the virus removal properties of a nanofiltration process on human platelet lysates (HPL) and found that it effectively reduced viral and procoagulant risks while preserving the neuroprotective and anti-inflammatory properties of HPL.
BIOENGINEERING & TRANSLATIONAL MEDICINE
(2023)
Article
Genetics & Heredity
Lucie Pierron, Sophie Tezenas du Montcel, Anna Heinzmann, Giulia Coarelli, Delphine Heron, Solveig Heide, Ariane Herson, Juliette Hennessy, Elodie Petit, Marcela Gargiulo, Alexandra Durr
Summary: This study investigates how reproductive options are considered in families impacted by neurogenetic diseases and whether there is a relationship with the perceived severity of the disease. The findings suggest that the severity of the disease has some influence on reproductive options, but minimally impacts intrafamilial communication.
JOURNAL OF MEDICAL GENETICS
(2023)
Article
Clinical Neurology
Paul Moulaire, Pierre Emmanuel Poulet, Emilien Petit, Thomas Klockgether, Alexandra Durr, Tetsuo Ashisawa, Sophie Tezenas du Montcel
Summary: This study analyzed the temporal dynamics of SARA and f-SARA in assessing the severity of cerebellar ataxia. The global progression of SARA was found to be linear, while f-SARA showed slower progression, requiring a larger sample size for therapeutic trials.
MOVEMENT DISORDERS
(2023)
Article
Urology & Nephrology
Hugo Bakis, Aurelien Trimouille, Agathe Vermorel, Cyril Goizet, Yaniss Belaroussi, Sacha Schutz, Guilhem Sole, Christian Combe, Marie-Laure Martin-Negrier, Claire Rigothier
Summary: Adults with mitochondrial disorders (MIDs) can also develop mitochondrial disorder-associated nephropathies (MIDANs), which are characterized by tubulointerstitial nephropathy or glomerular disease. Hypertension, albumin level, and vision abnormalities are associated with MIDANs.
CLINICAL KIDNEY JOURNAL
(2023)
Article
Biochemistry & Molecular Biology
Hind Bouchaoui, Laura Mahoney-Sanchez, Guillaume Garcon, Olivier Berdeaux, Laurent Y. Alleman, David Devos, James A. Duce, Jean-Christophe Devedjian
Summary: Ferroptosis, an iron-dependent regulated cell death triggered by high lipid peroxide levels, has been implicated in neurodegenerative diseases like Parkinson's disease (PD). The exact pathways and conditions leading to the death of dopaminergic neurons in PD remain unknown. This study shows that altering the PUFA composition in dopaminergic neuron membranes can determine susceptibility to ferroptosis, and cotreatment with iron promotes lipid peroxidation and cell death. Inhibition of specific enzymes involved in the lipid peroxidation pathway could be potential targets for neuroprotective strategies in PD.
FREE RADICAL BIOLOGY AND MEDICINE
(2023)
Article
Clinical Neurology
E. Mutez, M. Swiderski, D. Devos, C. Moreau, G. Baille, A. Degardin, G. Ryckewaert, N. Carriere, A. Kreisler, C. Simonin, N. Rouaix, M. Tir, P. Krystkowiak, N. Ramdane, M. Genin, B. Sablonniere, L. Defebvre, V. Huin
Summary: The aim of this study was to establish the effectiveness of MLPA as a primary screening test and propose clinical criteria for genetic diagnostic tests for suspected Mendelian Parkinson's disease. The study found that North African ancestry, female sex, and younger age at onset were significantly associated with a positive test result. Therefore, based on the retrospective analysis, further diagnostic criteria were proposed. This study highlights the importance of MLPA testing for Parkinson's cases with a family history.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Article
Clinical Neurology
M. Khamaysa, M. Lefort, M. Pelegrini-Issac, A. Lackmy-Vallee, A. Preuilh, D. Devos, A. -S. Rolland, C. Desnuelle, M. Chupin, V. Marchand-Pauvert, G. Querin, Pierre-Francois Pradat
Summary: This study aimed to evaluate the predictive value of cervical spinal cord MRI parameters for motor capacity in ALS compared to clinical prognostic factors. Structural MRI measurements were significantly correlated with the ALSFRS-R score and its sub-scores. Multiple linear regression models combining spinal multimodal MRI and clinical factors could predict motor capacity in ALS.
JOURNAL OF NEUROLOGY
(2023)
Article
Cell Biology
Alice Capuz, Sylvain Osien, Melodie Anne Karnoub, Soulaimane Aboulouard, Estelle Laurent, Etienne Coyaud, Antonella Raffo-Romero, Marie Duhamel, Amelie Bonnefond, Mehdi Derhourhi, Marco Trerotola, Ikram El Yazidi-Belkoura, David Devos, Monika Zilkova, Firas Kobeissy, Fabien Vanden Abeele, Isabelle Fournier, Dasa Cizkova, Franck Rodet, Michel Salzet
Summary: Using various omics analyses, we discovered that newborn rat astrocytes produce neural immunoglobulin chains with similarities to aberrant immunoglobulins found in cancers. The complete enzymatic V(D)J recombination complex was also found in astrocytes. In addition, we identified different immunoglobulin chains in adult rat astrocytes and primary astrocytes from human fetus. These neural IgGs play a role in astrocyte fate and interact with specific targets.
CELL DEATH & DISEASE
(2023)
Article
Clinical Neurology
Teodor Angelov, Teodora Chamova, Slavena Atemin, Tihomir Todorov, Slavko Ormandzhiev, Ivan Tourtourikov, Albena Todorova, David Devos, Ivailo Tournev
Summary: This study reports a novel variant in the PFN1 gene related to amyotrophic lateral sclerosis (ALS), discovered through whole exome sequencing and targeted analysis of ALS-related genes. The study describes a pedigree involving 3 generations and 4 affected individuals, of which 3 carry the newly identified heterozygous variant: c.92T > G (p.Val31Gly). Segregation analysis in the family reveals the variant was inherited from the affected mother and also present in the affected aunt.
FRONTIERS IN NEUROLOGY
(2023)
Article
Neurosciences
Clara Virbel-Fleischman, Flavien Mousin, Shuo Liu, Sebastien Hardy, Jean-Christophe Corvol, Isabelle Benatru, David Bendetowicz, Matthieu Bereau, Valerie Cochen De Cock, Sophie Drapier, Solene Frismand, Caroline Giordana, David Devos, Yann Retory, David Grabli
Summary: Body-worn sensors can provide valuable information for the management of Parkinson's disease and support treatment decisions based on objective monitoring. This study found a correlation between monitoring results and treatment adaptations, suggesting the potential for automated treatment modifications based on sensor recordings.
NPJ PARKINSONS DISEASE
(2023)
Article
Cell Biology
Alice Capuz, Sylvain Osien, Tristan Cardon, Melodie Anne Karnoub, Soulaimane Aboulouard, Antonella Raffo-Romero, Marie Duhamel, Dasa Cizkova, Marco Trerotola, David Devos, Firas Kobeissy, Fabien van den Abelle, Amelie Bonnefond, Isabelle Fournier, Franck Rodet, Michel Salzet
Summary: The dogma of one gene, one protein is outdated as cells use alternative splicing, alternative translation initiation sites, and alternative termination sites to generate multiple protein isoforms. Recent studies have shown that some non-coding RNAs can actually be translated into proteins. This article presents a longitudinal proteomic study on rat spinal cord injury (SCI) and identifies a plethora of newly predicted protein hits. Among these proteins, one with high homology to immunoglobulin Kappa variable light chains, named Heimdall, is expressed in astrocytes and may play a role in regulating their fate.
CELL DEATH & DISEASE
(2023)
Article
Genetics & Heredity
Sandra Martins, Ashraf Yahia, Ines P. D. Costa, Hassab E. Siddig, Rayan Abubaker, Mahmoud Koko, Marc Corral-Juan, Antoni Matilla-Duenas, Alexis Brice, Alexandra Durr, Eric Leguern, Laura P. W. Ranum, Antonio Amorim, Liena E. O. Elsayed, Giovanni Stevanin, Jorge Sequeiros
Summary: Machado-Joseph disease (MJD/SCA3) is the most common dominant ataxia worldwide, caused by a (CAG)n expansion. This study reports the first diagnosed MJD case in Sudan, with genetic analysis revealing shared ancestry with Portuguese, Spanish, and North American families. The STR-based haplotype of the Sudanese patients is distinct, indicating a unique genetic background.
Article
Radiology, Nuclear Medicine & Medical Imaging
Gregory Kuchcinski, Lucas Patin, Renaud Lopes, Melanie Leroy, Xavier Delbeuck, Adeline Rollin-Sillaire, Thibaud Lebouvier, Yi Wang, Pascal Spincemaille, Thomas Tourdias, Lotfi Hacein-Bey, David Devos, Florence Pasquier, Xavier Leclerc, Jean-Pierre Pruvo, Sebastien Verclytte
Summary: This study aimed to investigate the brain iron distribution patterns in subtypes of early-onset Alzheimer's disease (EOAD) using quantitative susceptibility mapping (QSM). The results showed that EOAD patients had higher QSM values in deep gray nuclei and limbic structures compared to controls. Among EOAD subtypes, HpSp(MRI) had the highest QSM values in deep gray nuclei, while LPMRI had the highest QSM values in limbic structures. Iron overload in deep gray nuclei could help identify patients with atypical presentation of Alzheimer's disease.
EUROPEAN RADIOLOGY
(2023)