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IMPORTANCE: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder characterized by progressive degeneration of upper and lower motor neurons at the spinal or bulbar level. OBJECTIVE: We aim to describe the most frequent otolaryngology (ORL) complaints and voice disturbances in patients with bulbar onset ALS. DESIGN: Retrospective cohort study. SETTING: Single-center study with combined ORL and ALS clinic evaluation. PARTICIPANTS: Patients with a confirmed diagnosis of ALS following an ORL visit and who underwent comprehensive voice assessments between January 2021 and January 2023. EXPOSURE: Objective voice assessments. MAIN OUTCOMES AND MEASURES: Glottal functional index (GFI), voice handicap index (VHI), reflux system index (RSI), and voice quality characteristics such as shimmer, jitter, maximum phonation time (MPT), and other essential parameters were assessed. RESULTS: One hundred and thirty-three patients (age 62.17 ± 10.79, 54.48% female) were included. Three patients were referred from the ORL department to the ALS clinic. The most frequent symptoms were; dysphagia, dysarthria, facial weakness, pseudobulbar affect, and sialorrhea. The mean of forced vital capacity was 59.85%, EAT-10 15.91 ± 11.66, RSI 25.84 ± 9.03, GFI 14.12 ± 5.58, VHI-10 42.81 ± 34.94, MPT 15.22 s ± 8.06. Many patients reported voice impairments mainly related to spastic dysarthria and the combination of lower and upper motor neuron dysarthria, hypernasality, reduced verbal expression, and articulatory accuracy. Shimmer was increased to 8.46% ± 7.20, and jitter to 2.26% ± 1.39. CONCLUSIONS AND RELEVANCE: Based on our cohort, this population with bulbar onset ALS has a higher frequency of voice disturbance characterized by hypernasality, spastic dysarthria, and reduced verbal expression. LEVEL OF EVIDENCE: Level 3.

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AIM: To clarify the role of Eomesodermin (EOMES) to serve as a disease-relevant biomarker and the intracellular molecules underlying the immunophenotype shifting of CD4+T subsets in amyotrophic lateral sclerosis (ALS). METHODS: The derivation and validation cohorts included a total of 148 ALS patients and 101 healthy controls (HCs). Clinical data and peripheral blood were collected. T-cell subsets and the EOMES expression were quantified using multicolor flow cytometry. Serum neurofilament light chain (NFL) was measured. In 1-year longitudinal follow-ups, the ALSFRS-R scores and primary endpoint events were further recorded in the ALS patients of the validation cohort. RESULTS: In the derivation cohort, the CD4+EOMES+T-cell subsets were significantly increased (p < 0.001). EOMES+ subset was positively correlated with increased serum NFL levels in patients with onset longer than 12 months. In the validation cohort, the elevated CD4+EOMES+T-cell proportions and their association with NFL levels were also identified. The longitudinal study revealed that ALS patients with higher EOMES expression were associated with higher progression rates (p = .010) and worse prognosis (p = .003). CONCLUSIONS: We demonstrated that increased CD4+EOMES+T-cell subsets in ALS were associated with disease progression and poor prognosis. Identifying these associations may contribute to a better understanding of the immunopathological mechanism of ALS.

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BACKGROUND AND OBJECTIVES: Timely identification of dysarthria progression in patients with bulbar-onset amyotrophic lateral sclerosis (ALS) is relevant to have a comprehensive assessment of the disease evolution. To this goal literature recognized the utmost importance of the assessment of the number of syllables uttered by a subject during the oral diadochokinesis (DDK) test. METHODS: To support clinicians, this work proposes a remote deep learning-based system, which consists (i) of a web application to acquire audio tracks of bulbar-onset ALS patients and healthy control subjects while performing the oral DDK test (i.e., repeating the /pa/, /pa-ta-ka/ and /oo-ee/ syllables) and (ii) a DDK-AID network designed to process the acquired audio signals which have different duration and to output the number of per-task syllables repeated by the subject. RESULTS: The DDK-AID network overcomes the comparative method achieving a mean Accuracy of 90.23 in counting syllables repeated by the eleven bulbar-onset ALS-patients while performing the oral DDK test. CONCLUSIONS: The proposed remote monitoring system, in the light of the achieved performance, represents an important step towards the implementation of self-service telemedicine systems which may ensure customised care plans.

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Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease related to the progressive death of motor neurons. Understanding the pathogenesis of ALS continues to provide considerable challenges. Bulbar-onset ALS involves faster functional loss and shorter survival time than spinal cord-onset ALS. However, debate is ongoing regarding typical plasma miRNA changes in ALS patients with bulbar onset. Exosomal miRNAs have not yet been described as a tool for bulbar-onset ALS diagnosis or prognosis prediction. In this study, candidate exosomal miRNAs were identified by small RNA sequencing using samples from patients with bulbar-onset ALS and healthy controls. Potential pathogenic mechanisms were identified through enrichment analysis of target genes for differential miRNAs. Expression of miR-16-5p, miR-23a-3p, miR-22-3p, and miR-93-5p was significantly up-regulated in plasma exosomes from bulbar-onset ALS patients compared with healthy control subjects. Among them, miR-16-5p and miR-23a-3p were significantly lower in spinal-onset ALS patients than those with bulbar-onset. Furthermore, up-regulation of miR-23a-3p in motor neuron-like NSC-34 cells promoted apoptosis and inhibited cell viability. This miRNA was found to directly target ERBB4 and regulate the AKT/GSK3ß pathway. Collectively, the above miRNAs and their targets are related to the development of bulbar-onset ALS. Our research indicates that miR-23a-3p might have an effect on motor neuron loss observed in bulbar-onset ALS and may be a novel target for the therapy of ALS in the future.

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CONTEXT: Amyotrophic lateral sclerosis (ALS) is a group of rare neurological diseases which cause progressive loss of upper and lower motor neurons at the spinal or bulbar level. ALS affects voluntary muscles of the body which control eating, talking, and moving. Individuals with ALS manifest difficulty breathing on their own due to weakness of the respiratory system. The average life expectancy of individuals with ALS is 2-5 years from the time of diagnosis, with death resulting from respiratory failure. There is no cure for ALS. At present, riluzole and edaravone are the only FDA-approved treatments that impact survival. Adverse reactions to edaravone include hypoxia and respiratory failure. To date, there are no published reports describing isolated dramatic respiratory improvement in ALS with continued global clinical worsening including limb and face function, particularly following edaravone use. FINDINGS: We present a case report of late stage bulbar ALS, in which a dramatic respiratory improvement is seen following edaravone use, and subsequent cessation. CONCLUSION/CLINICAL RELEVANCE: Isolated pulmonary decline and subsequent recovery following cessation of edaravone in the setting of continued systemic neurologic decline has not yet been described and may suggest potential for reversibility of edaravone-related pulmonary decline. Research is needed to evaluate this possibility further, and this case report may lead to further investigation to evaluate this possibility. Alternatively, although less likely, it is possible the observed that pulmonary improvement may either be beneficially attributed to edaravone, or unrelated to edaravone entirely - representing an undescribed phenomenon of isolated pulmonary decline and improvement in the setting of systemic continued ALS progression, possibly related to the bulbar subtype. Further investigation is warranted to evaluate both the role of edaravone in causing in a potentially reversible pulmonary decline upon cessation of the medication, and the possibility of other undefined variables including various subtypes of ALS contributing to this phenomenon.

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BACKGROUND: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease. Spreading pattern and time interval of spreading are getting more and more attention. The aim of present study was to investigate spreading pattern in bulbar onset ALS patients and to explore the relationship between time interval of spreading and survival. METHODS: ALS patients with bulbar onset diagnosed at Chinese PLA General Hospital from January 2015 to December 2018 were recruited. Clinical features including gender, onset age, diagnostic delay, the second involved region (SIR), time of symptoms beyond the bulbar region, forced vital capacity (FVC), ALSFRS-R score, electromyography results, and survival time were retrospectively collected. RESULTS: A total of 96 bulbar onset ALS patients were collected. Overall patients showed female predominance. Median age at onset was 56 years. Median diagnostic delay was 8.5 months. Median time of symptoms beyond the bulbar region (TBBR) was 7 months. Median ALSFRS-R score at baseline was 40. Fifty-six (58.3%) patients' SIR were upper limb, 6 (6.3%) patients' SIR were lower limb, 3 (3.1%) patients' SIR were upper and lower limbs, and 5 (5.2%) patients' SIR were thoracic region. Twenty-six (27.1%) patients did not report SIR. The median survival time of patients with TBBR ≥ 7 months was significantly longer than that with TBBR < 7 month. Multivariate Cox regression showed that onset age and TBBR were prognostic factors. CONCLUSIONS: In bulbar onset ALS patients, cervical region is the second most common SIR. TBBR is an independent prognostic factor.

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OBJECTIVE: This retrospective study analyzed the clinical characteristics and prognosis of the elderly amyotrophic lateral sclerosis (ALS) population in a large sample. METHODS: The study included 1,005 patients with sporadic ALS admitted to Chinese PLA General Hospital between March 2011 and March 2021. We stratified the ALS patients into young and old groups using 2 cutoffs for the age at disease onset (≥65 or ≥70 years old) and compared their demographic, clinical, and survival data. RESULTS: The mean onset age of all patients was 52.79 ± 10.55 years, with 123 (12.24%) having a disease onset ≥65 years and 44 (4.38%) having an onset ≥70 years. There were 624 (62.1%) male patients. More bulbar-onset cases were in the late-onset group (p = 0.001). The sex distribution, time from onset to diagnosis, and the time of symptom spread from spinal or bulbar localization to a generalized localization did not differ between groups. Late-onset patients progressed more rapidly and had a significantly shorter survival. CONCLUSIONS: Chinese ALS patients have an earlier age at onset and a relatively smaller proportion of old onset than European and Japanese patients. Elderly patients are more likely to have bulbar onset, which is related to rapid progression and a shorter survival.

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Objective: To study disease characteristics, progression and outcome in a group of motor neuron disease (MND) patients beginning with frontotemporal dementia (FTD) by comparing them with patients with the typical motor-onset. Methods: 849 patients recruited from tertiary centers were studied according to FTD-onset and motor-onset. We studied clinical data, functional decline and survival. Results: Twenty six patients (3.1%) had FTD-onset of whom seven (26.9%) had coincident motor dysfunction. In those with isolated FTD-onset, motor symptoms developed after a median of 12 months (IQR: 4-18). FTD-onset patients were older at presentation; the bulbar-region was more frequently first affected than in the motor-onset group; there was a predominant upper motor neuron (UMN) phenotype; fasciculations were less common than in motor onset disease but facial and upper limb apraxia was more frequent; as well as ALS and FTD familial history. No differences were observed for gender, frequency of C9orf72 hexanucleotide repeat expansion, family history of Alzheimer's and Parkinson's diseases, median delay from motor symptoms to diagnosis, median ALSFRS-R rate of change, handedness, emotional lability, depression, weight loss, resting tremor, bradykinesia, sensory changes or neuropathy. Clinical and demographic features were similar between FTD-onset patients developing bulbar MND and bulbar-onset ALS patients. Once bulbar symptoms manifested functional progression and survival were similar to those of bulbar-onset ALS patients. Conclusions: MND patients with FTD-onset have a distinctive phenotype characterized by predominant UMN presentation and rapid progression to bulbar involvement. The main factor impacting functional decline and survival is the onset of bulbar dysfunction.

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Improving quality of life (QoL) is central to amyotrophic lateral sclerosis (ALS) treatment. This Germany-wide, multicenter cross-sectional study analyses the impact of different symptom-specific treatments and ALS variants on QoL. Health-related QoL (HRQoL) in 325 ALS patients was assessed using the Amyotrophic Lateral Sclerosis Assessment Questionnaire 5 (ALSAQ-5) and EuroQol Five Dimension Five Level Scale (EQ-5D-5L), together with disease severity (captured by the revised ALS Functional Rating Scale (ALSFRS-R)) and the current care and therapies used by our cohort. At inclusion, the mean ALSAQ-5 total score was 56.93 (max. 100, best = 0) with a better QoL associated with a less severe disease status (ß = -1.96 per increase of one point in the ALSFRS-R score, p < 0.001). "Limb-onset" ALS (lALS) was associated with a better QoL than "bulbar-onset" ALS (bALS) (mean ALSAQ-5 total score 55.46 versus 60.99, p = 0.040). Moreover, with the ALSFRS-R as a covariate, using a mobility aid (ß = -7.60, p = 0.001), being tracheostomized (ß = -14.80, p = 0.004) and using non-invasive ventilation (ß = -5.71, p = 0.030) were associated with an improved QoL, compared to those at the same disease stage who did not use these aids. In contrast, antidepressant intake (ß = 5.95, p = 0.007), and increasing age (ß = 0.18, p = 0.023) were predictors of worse QoL. Our results showed that the ALSAQ-5 was better-suited for ALS patients than the EQ-5D-5L. Further, the early and symptom-specific clinical management and supply of assistive devices can significantly improve the individual HRQoL of ALS patients. Appropriate QoL questionnaires are needed to monitor the impact of treatment to provide the best possible and individualized care.

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Amyotrophic Lateral Sclerosis (ALS) is a progressive neurodegenerative disease that is characterized by a high heterogeneity in patients' disease course. Patients with bulbar onset of symptoms (b-ALS) have a poorer prognosis than patients with limb onset (l-ALS). However, neuroimaging correlates of the assumed biological difference between b-ALS and l-ALS may have been obfuscated by patients' diversity in the disease course. We conducted Voxel-Based-Morphometry (VBM) and Tract-Based-Spatial-Statistics (TBSS) in a group of 76 ALS patients without clinically relevant cognitive deficits. The subgroups of 26 b-ALS and 52 l-ALS patients did not differ in terms of disease Phase or disease aggressiveness according to the D50 progression model. VBM analyses showed widespread ALS-related changes in grey and white matter, that were more pronounced for b-ALS. TBSS analyses revealed that b-ALS was predominantly characterized by frontal fractional anisotropy decreases. This demonstrates a higher degree of neurodegenerative burden for the group of b-ALS patients in comparison to l-ALS. Correspondingly, higher bulbar symptom burden was associated with right-temporal and inferior-frontal grey matter density decreases as well as fractional anisotropy decreases in inter-hemispheric and long association tracts. Contrasts between patients in Phase I and Phase II further revealed that b-ALS was characterized by an early cortical pathology and showed a spread only outside primary motor regions to frontal and temporal areas. In contrast, l-ALS showed ongoing structural integrity loss within primary motor-regions until Phase II. We therefore provide a strong rationale to treat both onset types of disease separately in ALS studies.

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BACKGROUND: One of the pathogenic mechanisms of ALS disease is perturbed energy metabolism particularly glucose metabolism. Given the substantial difference in the severity and the prognosis of the disease, depending on whether it has a bulbar or spinal onset, the aim of the study was to determine metabolic differences between both types of ALS, as well as the possible relationship with muscle function. MATERIALS AND METHODS: A descriptive, analytical, quantitative, and transversal study was carried out in hospitals and Primary Care centers in the region of Valencia, Spain. Fasting glucose and alkaline phosphatase (AP) levels in venous blood, muscle percentage, fat percentage, muscle strength (MRC scale), and functional capacity (Barthel Index) were measured in 31 patients diagnosed with ALS (20 with spinal onset ALS and 11 with bulbar onset ALS). A healthy control of 29 people was included. RESULTS: No significant differences were observed in blood AP and glucose levels between spinal onset and bulbar onset ALS patients. However, a significant positive correlation was observed between the mean values of both substances in patients with spinal onset ALS. Moreover, a lower percentage of muscle mass and a higher percentage of fat mass were also seen in spinal ALS patients, who also presented lower muscle strength and lower functional capacity. CONCLUSION: The results of this study seem to point to a possible difference in the peripheral use of glucose between patients with bulbar onset ALS and spinal onset ALS, who appear to have possible insulin resistance. These metabolic differences could explain the lower muscle percentage and lower muscular function in spinal onset ALS patients, although further studies are required.

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Amyotrophic lateral sclerosis (ALS) is characterized by progressive onset motor deficits with heterogenous presentations ranging from dysarthria to foot drop. Approximately 20% of the patients present with focal bulbar symptoms, in which some may remain restricted to bulbar region (isolated bulbar palsy), and the remaining eventually spreads to involve other body regions (classical ALS). Without accompanying upper and lower motor neurons signs elsewhere, differential diagnoses for isolated bulbar symptoms are extensive, include ALS variants as well as potentially treatable mimics. Therefore, it is important to take heed on every possible aetiology that may disrupt the hypoglossal nucleus, nerve, or lingual muscle itself. Herein, we illustrated a rare presentation of Group A basilar invagination, which mimicked bulbar-onset ALS.

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Objective: Long-term life experiences, such as education, occupational attainment, leisure activities, and bilingualism, have been considered proxies of cognitive reserve (CR). In neurodegenerative disease, CR is considered as a modulator of a more favorable cognitive trajectory and motor functions. Our study investigated the role of CR on cognitive and motor involvement in a large cohort of incident patients with amyotrophic lateral sclerosis (ALS). Methods: Cognition assessment and clinical and demographic information were obtained in 101 incident ALS patients. CR was measured based on years of education, occupational attainment, amount of leisure activities, and bilingualism. Correlation and regression analyses were performed to test the association between CR and the clinical expression of ALS. Results: We found that all proxies of CR were positively associated with executive functions, verbal fluency, and memory domains. Motor impairment was inversely related to educational level and occupational attainment. Regression analysis documented the association between CR and cognitive performances in all patients and the predictive role of CR in modulating motor functional disability in patients with bulbar-onset. Conclusion: Our findings showed that CR mediates the extent of cognitive decline and that of functional bulbar impairment, suggesting that the concept of reserve applied to ALS should encompass cognitive and motor domains.

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OBJECTIVE: Amyotrophic lateral sclerosis (ALS) with bulbar-onset (BO-ALS) tends to propagate to the adjacent anatomical regions symptomatically. However, the spreading pattern of clinical and electrophysiological features is not well documented. METHODS: This retrospective study enrolled consecutive patients with sporadic BO-ALS. The clinical progression and electrophysiological data by electromyography examination were retrospectively analysed based on information from the medical records. RESULTS: The study enrolled 57 patients: 43 presented with contiguous (37 of 57) or non-contiguous (6 of 57) progression clinically; and 14 patients did not present with symptomatic propagation to other spinal segments. Lower motor neuron dysfunction was more frequently involved in the bulbar and cervical segments and less in the thoracic and lumbosacral segments. As a result, a small proportion of patients had intact thoracic paraspinal or leg muscles or both by electromyography examination. Furthermore, the patients with diagnostic latency ≤6 months showed a significantly lower incidence of neurogenic changes in the lumbosacral spinal cord compared with those with diagnostic latency > 6 months. CONCLUSION: This current study demonstrated a relative rostral-caudal descending gradient of lower motor neuron dysfunction in patients with BO-ALS. These results suggest that follow-up EMG might be necessary for a proportion of patients.

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INTRODUCTION: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder of the central nervous system (CNS) that causes progressive and irreversible damage in motor neurons. Different causal hypotheses include genetic, viral, traumatic and environmental mechanisms, such as exposure to heavy metals. The aim of this study was to compare metal/metalloid levels in cerebro-spinal fluid of ALS subtypes (spinal vs bulbar clinical onset). MATERIAL AND METHODS: This observational study consecutively screened all ALS patients referring to the Neurology Clinic of the University of Catania (Italy). Inductively coupled plasma mass spectrometry (ICP-MS) was used to quantify magnesium (Mg), cuprum (Cu), selenium (Se), iron (Fe), manganese (Mn), vanadium (V), zinc (Zn), alluminium (Al), arsenic (As), cobalt (Co), nickel (Ni), mercury (Hg), lead (Pb), cadmium (Cd) and palladium (Pd) levels. RESULTS: Thirty-seven patients were enrolled (62.2% females), median age of 65 years (IQR: 59-71 years). Thirty-one (83.8%) patients had a spinal onset and 6 (16.2%) a bulbar onset. Se and As levels were higher compared to the reference values (RV) both in spinal and bulbar onset, while Cu was higher than RV only in bulbar onset. Moreover, Cu (129.8 µg/L vs 29.8 µg/L), Fe (54.5 µg/L vs 33.3 µg/L), Mn (3.4 µg/L vs 1.8 µg/L), Zn (46.1 µg/L vs 35.7 µg/L), Al (12.2 µg/L vs 6.7 µg/L), Ni (2.80 µg/L vs 1.40 µg/L), and Pb (0.60 µg/L vs 0.30 µg/L) levels were higher in bulbar than in spinal onset, conversely As was slightly higher in spinal than in bulbar onset (1.40 µg/L vs 1.10 µg/L). Overall, Cu (129 µg/L vs 31 µg/L), Fe (92.2 µg/L vs 32.9 µg/L), Mn (3.35 µg/L vs 1.80 µg/L), Zn (56.5 µg/L vs 35.2 µg/L), Al (14.45 µg/L vs 6.70 µg/L), and Cd (0.40 µg/L vs 0.08 µg/L) levels were higher in patients with disease duration less than 19 months. CONCLUSION: Our results supported the hypothesis that metals/metalloids with neurotoxic effects could be involved in the etiology of ALS, showing higher levels of Cu, Se and As. Relevant differences in Cu and Mn levels were found between bulbar and spinal onset patients.

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BACKGROUND: Little is known about the clinical phenotype of amyotrophic lateral sclerosis (ALS) in non-Caucasian populations. Here, we aimed to describe the clinical characteristics, prognostic factors and survival of Mexican patients with ALS. METHODS: We conducted a retrospective study by reviewing the medical records of patients with ALS that attended and were regularly followed at a third level hospital in Mexico City from 2000 to 2015. We calculated absolute and relative frequencies of the clinical characteristics from all the participants. We also estimated correlation coefficients between clinical features and overall survival. Additionally, survival rates were compared for all participants grouped according to different clinical features using the Kaplan-Meier method and the log-rank test. RESULTS: We enrolled 45 ALS patients, 53.33% had spinal-onset ALS and 46.66% presented bulbar ALS. The male/female ratio was 0.8. The mean age at onset of symptoms was 58.11 years. Mean survival time from onset was 64.73 ± 34.83 months. Cumulative survival rate after 5 years of disease onset was 44.44%. Age at onset and age at diagnosis inversely correlated with overall survival time. Also, we found that bulbar-onset, short diagnostic delay, percutaneous endoscopic gastrostomy, mechanical ventilation, and lower total cholesterol serum levels were associated with short survival. CONCLUSIONS: The clinical characteristics of Mexican ALS patients differ from the disease phenotype observed in Caucasians. Nonetheless, the predictive value of certain well-recognized prognostic factors remains consistent in our population. The current study provides relevant information for a better understanding of prognostic factors in ALS patients from Mexico and other Latin American countries.

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OBJECTIVES: To explore the cause of long survival but early onset and other prognostic factors among Chinese sporadic amyotrophic lateral sclerosis (ALS) patients. METHODS: Patients with ALS were recruited and followed up from Jan 2013 to Jan 2017. Phenotype and survival were compared among different age-at-onset groups. Candidate prognostic factors were analyzed by Kaplan-Meier method, Cox regression and Royston Parmar (RP) model dealing with breaches of proportional hazard assumption. RESULTS: In the cohort of 531 patients, mean age-at-onset was 53.68 years (SD:10.85) and overall estimated median survival time was 59 months (95% CI: 48.29-69.71). Pairwise comparison showed that patients above 65 years at onset were more frequently bulbar onset (adjusted residual: 3.0), less frequently lumbosacral onset (adjusted residual: -3.0), and had shorter survival compared with other age groups (p = 0.002). Cox and RP model demonstrated independent prognostic variables including age at onset, bulbar onset, diagnostic delay, MRC-score at first diagnosis and region of residence. CONCLUSIONS: This clinic-based study suggested that Chinese sporadic ALS patients had relatively long survival probably due to young age and less bulbar onset cases. Short diagnostic delay, low MRC-score and northern residence were also predicative of short survival. Reallocation of resources is needed to optimize quality care and prolong survival time.

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Amyotrophic lateral sclerosis (ALS) is a rare, progressive neurodegenerative disease, part of the spectrum of motor neuron diseases. This disease is divided on the bases of heritability, with majority of the cases being sporadic and phenotype, with eight recognized patterns-each with its respective symptoms, rate of progression, and prognosis. Here, we report a case of sporadic, bulbar-onset ALS, unique in its presentation as our patient had fully progressed bulbar symptoms, at the age of 28 years-where other cases of bulbar ALS are associated with much older ages and have a predisposition for the female gender. His prominent and elaborate tongue fasciculations going all the way down to the neck and rendering him incapable of holding his tongue out made for an additional reason of our special interest in the case and the keenness to report it.

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BACKGROUND: Amyotrophic lateral sclerosis (ALS) is a fatal progressive motor neuron disease. People with ALS demonstrate various speech problems. SUMMARY: We aim to provide an overview of studies concerning the diagnosis of ALS based on the analysis of voice samples. The main focus is on the feasibility of the use of voice and speech assessment as an effective method to diagnose the disease, either in clinical or pre-clinical conditions, and to monitor the disease progression. Specifically, we aim to examine current knowledge on: (a) voice parameters and the data models that can, most effectively, provide robust results; (b) the feasibility of a semi-automatic or automatic diagnosis and outcomes; and (c) the factors that can improve or restrict the use of such systems in a real-world context. Key Messages: The studies already carried out on the possibility of diagnosis of ALS using the voice signal are still sparse but all point to the importance, feasibility and simplicity of this approach. Most cohorts are small which limits the statistical relevance and makes it difficult to infer broader conclusions. The set of features used, although diverse, is quite circumscribed. ALS is difficult to diagnose early because it may mimic several other neurological diseases. Promising results were found for the automatic detection of ALS from speech samples and this can be a feasible process even in pre-symptomatic stages. Improved guidelines must be set in order to establish a robust decision model.

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The aim of the study was to analyse the disturbances of the oro-pharyngeal swallowing phase of dysphagia in amyotrophic lateral sclerosis (ALS) patients with the use of specific manometric measurements and to evaluate their plausible association with the duration of the disease. Seventeen patients with ALS were evaluated with manometric examinations of the oral and pharyngeal part of the gastrointestinal tract. Tests were carried out by using the oesophageal balloon-based method with four balloon transducers located 5 cm away from each other. The following manometric parameters were analysed: the base of tongue contraction (BTC) and the upper oesophageal sphincter pressure (UESP), and the hypopharyngeal suction pump (HSP) as well as the oro-pharyngeal, pharyngeal and hypopharyngeal transit time and average pharyngeal bolus velocity (oropharyngeal transit time (OTT), pharyngeal transit time (PTT), hypopharyngeal transit time (HTT) and average pharyngeal bolus velocity (APBV), respectively). Manomatric examinations during swallowing in patients with ALS showed significant weakness of BTC, a decrease of HSP and a decrease of the velocity of bolus transit inside the pharynx which were particularly marked between the first and the third examination. Manometric examinations of the oro-pharyngeal part of the gastrointestinal tract are useful and supportive methods in the analysis of swallowing disturbances in ALS patients.

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