Article
Clinical Neurology
Martina Vigano', Vittorio Mantero, Paola Basilico, Fiammetta Pirro, Dario Ronchi, Alessio Di Fonzo, Andrea Salmaggi
Summary: Allgrove syndrome is a genetic disorder characterized by esophageal achalasia, adrenal insufficiency, and alacrima. Neurological manifestations are frequent in late-onset forms and can resemble motor neuron disease, but attention to extra-neurological symptoms remains crucial for an accurate diagnosis.
NEUROLOGICAL SCIENCES
(2023)
Article
Clinical Neurology
Alicia Northall, Budhaditya Mukhopadhyay, Miriam Weber, Susanne Petri, Johannes Prudlo, Stefan Vielhaber, Stefanie Schreiber, Esther Kuehn
Summary: This study developed an open-source tool called Tongue Tracker (TT) to quantify bulbar function in patients with ALS and stroke by training a neural network to track tongue movements. The results showed that early-stage bulbar-onset ALS patients had slower and fewer tongue sweeps compared to healthy controls and limb-onset patients, and limb-onset patients with bulbar impairment had different tongue kinematic profiles compared to healthy controls. TT may be useful in detecting quantitative markers of bulbar dysfunction.
FRONTIERS IN NEUROLOGY
(2022)
Article
Clinical Neurology
Marzieh Khani, Shahriar Nafissi, Hosein Shamshiri, Hamidreza Moazzeni, Hanieh Taheri, Mehdi Sadeghi, Najmeh Salehi, Fereshteh Chitsazian, Elahe Elahi
Summary: This study reports the identification of UBA1 as a novel causative gene for SBMA. A missense mutation in UBA1 was found to be the possible cause of non-Kennedy SBMA in a pedigree. The study also discusses the contribution of UBA1 to the etiology of XL-SMA.
EUROPEAN JOURNAL OF NEUROLOGY
(2022)
Article
Computer Science, Interdisciplinary Applications
Alberto Tena, Francesc Claria, Francesc Solsona, Monica Povedano
Summary: This study proposes a new methodology to automatically diagnose bulbar dysfunction at early stages of amyotrophic lateral sclerosis (ALS) before clinicians can do. The methodology creates a voiceprint from the quasi-periodic components of five Spanish vowels and computes the principal and independent components. The best model achieves high accuracy, sensitivity, and specificity in classifying bulbar vs. control participants.
COMPUTER METHODS AND PROGRAMS IN BIOMEDICINE
(2023)
Article
Clinical Neurology
Yana Yunusova, Ashley Waito, Carolina Barnett Tapia, Anna Huynh, Rosemary Martino, Agessandro Abrahao, Gary L. Pattee, James D. Berry, Lorne Zinman, Jordan R. Green
Summary: The purpose of this study is to develop a brief and reliable clinician-administered assessment tool, ALS-BDI, for evaluating bulbar dysfunction in ALS patients. Two drafts of the instrument were developed, consisting of 35 and 37 items respectively, based on literature review and expert feedback. Future research will focus on evaluating the psychometric properties of this tool.
FRONTIERS IN NEUROLOGY
(2023)
Article
Clinical Neurology
Antonio Canosa, Alessio Martino, Alessandro Giuliani, Cristina Moglia, Rosario Vasta, Maurizio Grassano, Francesca Palumbo, Sara Cabras, Francesca Di Pede, Filippo De Mattei, Enrico Matteoni, Giulia Polverari, Umberto Manera, Andrea Calvo, Marco Pagani, Adriano Chio
Summary: This study aimed to evaluate the ability of brain 2-[F-18]FDG-PET to reveal the metabolic features characterizing patients with pure bulbar or spinal motor impairment. The results showed that ALS patients with bulbar onset exhibited relative hypometabolism in the bilateral precentral gyrus, and the SVM classifier performed the best.
JOURNAL OF NEUROLOGY
(2023)
Article
Neuroimaging
Anna Nigri, Manera Umberto, Mario Stanziano, Stefania Ferraro, Davide Fedeli, Jean Paul Medina Carrion, Sara Palermo, Laura Lequio, Federica Denegri, Federica Agosta, Massimo Filippi, Maria Consuelo Valentini, Antonio Canosa, Andrea Calvo, Adriano Chio, Maria Grazia Bruzzone, Cristina Moglia
Summary: C9orf72 mutation carriers with different neurological phenotypes show cortical and subcortical atrophy in multiple brain regions, even in pre-symptomatic phases. This study found disease-specific patterns of thalamo-cortico-striatal atrophy and functional alterations in ALS patients with C9orf72 mutation. Importance rating: 8/10.
NEUROIMAGE-CLINICAL
(2023)
Article
Radiology, Nuclear Medicine & Medical Imaging
Yifang Bao, Yan Chen, Sirong Piao, Bin Hu, Liqin Yang, Haiqing Li, Daoying Geng, Yuxin Li
Summary: This study aimed to explore whether the combined analysis of motor and bulbar regions of M1 on susceptibility-weighted imaging (SWI) can serve as a valid biomarker for amyotrophic lateral sclerosis (ALS). The results showed significantly increased phase values in the M1 region and its subregions in ALS patients compared to healthy controls. The phase values were correlated with clinical scores, disease duration, and disease progression rate, and the entire M1 region showed the best diagnostic performance for ALS.
EUROPEAN RADIOLOGY
(2023)
Article
Neurosciences
Yue Liu, Man Ding, Sijia Pan Rumeng Zhou, Jiajia Yao, Rong Fu, Hang Yu, Zuneng Lu
Summary: In this study, candidate exosomal miRNAs were identified from patients with bulbar-onset ALS, and miR-16-5p, miR-23a-3p, miR-22-3p, and miR-93-5p were found to be significantly up-regulated in plasma exosomes from ALS patients. Among them, miR-23a-3p was shown to promote apoptosis and inhibit cell viability. The results suggest that these miRNAs and their targets are closely related to the development of bulbar-onset ALS.
Article
Clinical Neurology
Harper S. Kim, John Son, Donghwan Lee, Joy Tsai, Danny Wang, E. Sandra Chocron, Seongwoo Jeong, Pamela Kittrell, Charles F. Murchison, Richard E. Kennedy, Alejandro Tobon, Carlayne E. Jackson, Andrew M. Pickering
Summary: In patients with ALS, different subtypes (sALS and bALS) show different dysbiosis patterns. sALS patients primarily exhibit gut dysbiosis, while bALS patients primarily exhibit oral dysbiosis. For sALS patients, gut dysbiosis is associated with microbial translocation and symptom severity, while for bALS patients, oral dysbiosis is associated with microbial translocation and disease severity. Both subtypes display oral motor deficits, but only in bALS is oral dysbiosis correlated with severity of oral motor deficits.
Article
Medicine, General & Internal
Yana Yunusova, Ashley Waito, Carolina Barnett, Anna Huynh, Rosemary Martino, Agessandro Abrahao, Gary L. Pattee, James D. Berry, Lorne Zinman, Jordan R. Green
Summary: The study aims to develop and validate a brief and reliable assessment tool for early detection and tracking of bulbar dysfunction in ALS patients. The research will determine the psychometric properties of the tool, including reliability, validity, and responsiveness. Once validated, the tool will be disseminated and implemented for clinical and research use.
Article
Clinical Neurology
Karoline Steinmetz, Boris Rudic, Martin Borggrefe, Kathrin Muller, Reiner Siebert, Wolfgang Rottbauer, Albert Ludolph, Dominik Buckert, Angela Rosenbohm
Summary: Males with X-linked recessive spinobulbar muscular atrophy (SBMA) may have a Brugada electrocardiography (ECG) pattern and an increased risk of sudden cardiac death. Using ECG and cardiovascular magnetic resonance imaging (CMR), subtle myocardial abnormalities and structural abnormalities were detected in SBMA patients, potentially explaining the elevated risk of sudden death. These findings highlight the importance of ECG screening and CMR imaging.
JOURNAL OF NEUROLOGY
(2022)
Article
Critical Care Medicine
Dongha Lee, Yujeong Lee, Yoonsang Lee, Kipom Kim
Summary: This study examined temporal changes in functional connectivity and network properties in the mouse brainstem after concussion. It found that functional connectivity and network properties were decreased on post-concussion day 7 but normalized on post-concussion day 14. The study also found that local network properties were correlated with anxiety-like behaviors on post-concussion days 7 and 14.
JOURNAL OF NEUROTRAUMA
(2023)
Article
Cell Biology
Yosuke Ogura, Kentaro Sahashi, Tomoki Hirunagi, Madoka Iida, Takaki Miyata, Masahisa Katsuno
Summary: Spinal and bulbar muscular atrophy (SBMA) is an adult-onset neurodegenerative disease caused by the expansions of CAG repeats in the androgen receptor (AR) gene. This study found that upregulation of Mid1 gene expression in motor neurons contributes to vulnerability and axonogenesis defects in SBMA.
CELL DEATH & DISEASE
(2022)
Review
Pediatrics
Giorgio Costagliola, Diego G. Peroni, Rita Consolini
Summary: This paper discusses the non-infectious manifestations of patients with inborn errors of immunity (IEI) and highlights the importance of these manifestations in the diagnosis of the disease.
FRONTIERS IN PEDIATRICS
(2022)
