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  • 1
    In: Parkinsonism & Related Disorders, Elsevier BV, Vol. 47 ( 2018-02), p. 50-56
    Type of Medium: Online Resource
    ISSN: 1353-8020
    Language: English
    Publisher: Elsevier BV
    Publication Date: 2018
    detail.hit.zdb_id: 2027635-7
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  • 2
    Online Resource
    Online Resource
    Frontiers Media SA ; 2023
    In:  Frontiers in Neurology Vol. 14 ( 2023-3-2)
    In: Frontiers in Neurology, Frontiers Media SA, Vol. 14 ( 2023-3-2)
    Abstract: Motor impairments are only one aspect of Parkinson's disease (PD), which also include cognitive and linguistic impairments. Speech-derived interpretable biomarkers may help clinicians diagnose PD at earlier stages and monitor the disorder's evolution over time. This study focuses on the multilingual evaluation of a composite array of biomarkers that facilitate PD evaluation from speech. Hypokinetic dysarthria, a motor speech disorder associated with PD, has been extensively analyzed in previously published studies on automatic PD evaluation, with a relative lack of inquiry into language and task variability. In this study, we explore certain acoustic, linguistic, and cognitive information encoded within the speech of several cohorts with PD. A total of 24 biomarkers were analyzed from American English, Italian, Castilian Spanish, Colombian Spanish, German, and Czech by conducting a statistical analysis to evaluate which biomarkers best differentiate people with PD from healthy participants. The study leverages conceptual robustness as a criterion in which a biomarker behaves the same, independent of the language. Hence, we propose a set of speech-based biomarkers that can effectively help evaluate PD while being language-independent. In short, the best acoustic and cognitive biomarkers permitting discrimination between experimental groups across languages were fundamental frequency standard deviation, pause time, pause percentage, silence duration, and speech rhythm standard deviation. Linguistic biomarkers representing the length of the narratives and the number of nouns and auxiliaries also provided discrimination between groups. Altogether, in addition to being significant, these biomarkers satisfied the robustness requirements.
    Type of Medium: Online Resource
    ISSN: 1664-2295
    Language: Unknown
    Publisher: Frontiers Media SA
    Publication Date: 2023
    detail.hit.zdb_id: 2564214-5
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  • 3
    In: American Journal of Medical Genetics Part A, Wiley, Vol. 179, No. 8 ( 2019-08), p. 1556-1564
    Abstract: Biallelic pathogenic variants in AARS2 , a gene encoding the mitochondrial alanyl‐tRNA synthetase, result in a spectrum of findings ranging from infantile cardiomyopathy to adult‐onset progressive leukoencephalopathy. In this article, we present three unrelated individuals with novel compound heterozygous pathogenic AARS2 variants underlying diverse clinical presentations. Patient 1 is a 51‐year‐old man with adult‐onset progressive cognitive, psychiatric, and motor decline and leukodystrophy. Patient 2 is a 34‐year‐old man with childhood‐onset progressive tremor followed by the development of polyneuropathy, ataxia, and mild cognitive and psychiatric decline without leukodystrophy on imaging. Patient 3 is a 57‐year‐old woman with childhood‐onset tremor and nystagmus which preceded dystonia, chorea, ataxia, depression, and cognitive decline marked by cerebellar atrophy and white matter disease. These cases expand the clinical heterogeneity of AARS2‐ related disorders, given that the first and third case represent some of the oldest known survivors of this disease, the second is adult‐onset AARS2 ‐related neurological decline without leukodystrophy, and the third is biallelic AARS2 ‐related disorder involving a partial gene deletion.
    Type of Medium: Online Resource
    ISSN: 1552-4825 , 1552-4833
    URL: Issue
    Language: English
    Publisher: Wiley
    Publication Date: 2019
    detail.hit.zdb_id: 1493479-6
    SSG: 12
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  • 4
    Online Resource
    Online Resource
    Wiley ; 2023
    In:  Movement Disorders Clinical Practice Vol. 10, No. 7 ( 2023-07), p. 1136-1142
    In: Movement Disorders Clinical Practice, Wiley, Vol. 10, No. 7 ( 2023-07), p. 1136-1142
    Abstract: Perry disease (or Perry syndrome [PS]) is a hereditary neurodegenerative disorder inevitably leading to death within few years from onset. All previous cases with pathological confirmation were caused by mutations within the cytoskeleton‐associated protein glycine‐rich (CAP‐Gly) domain of the DCTN1 gene. Objectives This paper presents the first clinicopathological report of PS due to a novel DCTN1 mutation outside the CAP‐Gly domain. Methods Clinical and pathological features of the new variant carrier are compared with another recently deceased PS case with a well‐known pathogenic DCTN1 mutation and other reported cases. Results and Conclusions We report a novel DCTN1 mutation outside the CAP‐Gly domain that we demonstrated to be pathogenic based on clinical and autopsy findings.
    Type of Medium: Online Resource
    ISSN: 2330-1619 , 2330-1619
    URL: Issue
    Language: English
    Publisher: Wiley
    Publication Date: 2023
    detail.hit.zdb_id: 2772809-2
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  • 5
    Online Resource
    Online Resource
    Ovid Technologies (Wolters Kluwer Health) ; 2023
    In:  Journal of Neuro-Ophthalmology Vol. 43, No. 2 ( 2023-06), p. 273-276
    In: Journal of Neuro-Ophthalmology, Ovid Technologies (Wolters Kluwer Health), Vol. 43, No. 2 ( 2023-06), p. 273-276
    Abstract: A 68-year-old woman with positional dizziness and progressive imbalance presented for vestibular evaluation. Examination was notable for spontaneous downbeat nystagmus (DBN), horizontal and vertical gaze-evoked nystagmus (GEN) with centripetal and rebound nystagmus, and positional apogeotropic nystagmus. There was also mild–moderate slowing of saccades horizontally and vertically and poor fast phases with an optokinetic stimulus. Further consultation by a movement disorder specialist uncovered asymmetric decrementing bradykinesia and rigidity, masked facies, and a wide-based stance without camptocormia. Screening serum laboratory results for metabolic, rheumatologic, infectious, heavy metal, endocrine, or vitamin abnormalities was normal. Surveillance imaging for neoplasms was unremarkable, and cerebrospinal fluid (CSF) analysis was negative for 14-3-3 and real-time quaking-induced conversion (RT-QuIC). However, her anti-glutamic acid decarboxylase-65 (GAD65) immunoglobulin G (IgG) level was markedly elevated in serum to 426,202 IU/mL (reference range 0–5 IU/mL) and in CSF to 18.1 nmol/L (reference range 〈 0.03 nmol/L). No other autoantibodies were identified on the expanded paraneoplastic panel. The patient was referred to neuroimmunology, where torso rigidity, spasticity, and significant paravertebral muscle spasms were noted. Overall, the clinical presentation, examination findings, and extensive workup were consistent with a diagnosis of anti-GAD65-associated stiff person syndrome-plus (musculoskeletal plus cerebellar and/or brainstem involvement). She was subsequently treated with intravenous immunoglobulin (IVIg) and has been stable since commencing this therapy. In patients with centripetal nystagmus, especially in association with other cerebellar findings, an autoimmune cerebellar workup should be considered.
    Type of Medium: Online Resource
    ISSN: 1070-8022
    Language: English
    Publisher: Ovid Technologies (Wolters Kluwer Health)
    Publication Date: 2023
    detail.hit.zdb_id: 2062798-1
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  • 6
    In: Alzheimer's & Dementia, Wiley, Vol. 18, No. S2 ( 2022-12)
    Abstract: Similar to other neurological diseases, subtle early neurological changes that occur in Alzheimer’s Disease (AD) are difficult to quantify and track objectively. One relevant bio‐signal is eye movement, as it presents a unique window into cognitive processes as a direct measure of real‐time inputs to the brain. Eye‐tracking allows us to estimate timestamped activity of neural function and begin to infer and quantify attention, reprocessing (eg. word revisits), and many other aspects relevant to assessing AD. The goal of this study was to investigate the saccadic movements and trial progress during administration of the Stroop test in AD compared to normal controls. Method 5 AD subjects and 12 age‐matched cognitively normal controls were recruited from the Johns Hopkins Memory and Alzheimer’s Treatment Center and the Movement Disorders Clinic at the Johns Hopkins University School of Medicine. An Eyelink Portable Duo in head‐free‐to‐move mode was used to track eye movements. Movement of the eyes were analyzed by automatically segmenting saccade movements throughout a trial. We then analyzed the eye movements in the context of cognitive performance, by identifying when subjects progress to each word in the Stroop test. We compared the performance of each group using a Wilcoxon RankSum test with the SciPy package using Python. Result Preliminary results show that 60% (3/5) of AD subjects were unable to complete the Stroop task in 80 seconds. Individuals with AD had more saccades (p=0.105) with greater saccadic overshoot (p=0.092) and a greater maximum saccade velocity (p=0.035) on average compared to cognitively normal controls. AD subjects also took much longer to complete the first (p=0.114) and second lines (p=0.092) compared to healthy controls, suggesting initial confusion and hesitation. Conclusion AD subjects change their gaze more often with greater speed and less precision than age‐matched controls. These data demonstrate feasibility of using automatic quantitative evaluation of eye movements in AD. In the future, we will determine the utility of using this tool for early detection of AD and tracking its progression, along with combining other measures such as voice and handwriting (multimodal) to provide insights into early physiological changes in AD.
    Type of Medium: Online Resource
    ISSN: 1552-5260 , 1552-5279
    URL: Issue
    Language: English
    Publisher: Wiley
    Publication Date: 2022
    detail.hit.zdb_id: 2201940-6
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  • 7
    Online Resource
    Online Resource
    Elsevier BV ; 2018
    In:  The American Journal of Geriatric Psychiatry Vol. 26, No. 10 ( 2018-10), p. 1012-1013
    In: The American Journal of Geriatric Psychiatry, Elsevier BV, Vol. 26, No. 10 ( 2018-10), p. 1012-1013
    Type of Medium: Online Resource
    ISSN: 1064-7481
    Language: English
    Publisher: Elsevier BV
    Publication Date: 2018
    detail.hit.zdb_id: 1474415-6
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  • 8
    Online Resource
    Online Resource
    BMJ ; 2019
    In:  Journal of Neurology, Neurosurgery & Psychiatry Vol. 90, No. 7 ( 2019-07), p. 822-829
    In: Journal of Neurology, Neurosurgery & Psychiatry, BMJ, Vol. 90, No. 7 ( 2019-07), p. 822-829
    Abstract: Persons with Parkinson’s disease (PwP) have many known risk factors for suicide and suicidal ideation (SI). Despite this, there is limited understanding of suicidality in this population. We conducted a systematic review to synthesise the available literature on suicidality in PwP and highlight areas for potential intervention and further research. We identified 116 articles discussing SI, suicidal behaviours, suicide attempts and/or fatal suicide in PwP. These articles describe prevalence, suicide methods, risk factors for suicide and SI and treatment of suicidality. In this review, we summarise the current literature and provide suggestions for how clinicians can identify and treat PwP who are at risk for suicide, for example, through aggressive treatment of depression and improved screening for access to lethal means.
    Type of Medium: Online Resource
    ISSN: 0022-3050 , 1468-330X
    RVK:
    Language: English
    Publisher: BMJ
    Publication Date: 2019
    detail.hit.zdb_id: 1480429-3
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  • 9
    In: Alzheimer's & Dementia, Wiley, Vol. 18, No. S2 ( 2022-12)
    Abstract: Speech and language problems are one of the earliest signs of neurodegenerative diseases including Alzheimer’s disease (AD), but they are often difficult to detect especially in the early stages. Utility of assessing speech and language problems using artificial intelligence (AI) has been examined in the past. However, the accuracy of different methods has been variable, preventing incorporation of these techniques in clinical use. In this study, we present different speech‐based machine learning techniques. We focused on the automatic extraction of a wide array of interpretable features from the speech signals, then compared these features across different neurological disorders. Method Spoken responses to four different tasks (i.e., Cookie Theft Picture (CTP) and Stroop Task) were recorded from 80 participants, 5 with AD, 28 with Parkinson's disease (PD), 18 normal controls (NCs), and the remaining with other neurological diseases (OTRs). We automatically extracted several acoustic and linguistic features using speech and language technologies. We conducted pairwise Kruskal–Wallis tests to assess how speech and language abilities differed between different neurodegenerative disease vs. control groups. We used SciPy Python library. Result The total amount of speech time and pauses as well as the average duration and the variance of the number pauses significantly differed between AD and NC and between PD and NC in almost every task (p 〈 0.05). Prosodic features based on F0 contour and F0 on the first and last voiced segment resulted in significant differences across tasks between AD and NC, AD and PD, AD and OTR (p 〈 0.05). The phonological posterior for the phonological classes of consonantal, voiced, labial, nasal, velar, trill, and close significantly differed in almost every task between AD and NC, AD and PD and AD and OTR (p 〈 0.05). Moreover, from the transcriptions of the CTP task, the number of sentences and noun phrases differed significantly between AD and NC, whereas the number of contrastive connectives and the moving average type‐token ratio were significant between NC and OTR (p 〈 0.05). Conclusion Automated analysis of speech employing machine learning techniques can provide objective assessment of patients with AD that may be useful in distinguishing AD from other neurological disorders.
    Type of Medium: Online Resource
    ISSN: 1552-5260 , 1552-5279
    URL: Issue
    Language: English
    Publisher: Wiley
    Publication Date: 2022
    detail.hit.zdb_id: 2201940-6
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  • 10
    Online Resource
    Online Resource
    Ovid Technologies (Wolters Kluwer Health) ; 2022
    In:  Neurology Vol. 99, No. 21 ( 2022-11-22), p. 957-961
    In: Neurology, Ovid Technologies (Wolters Kluwer Health), Vol. 99, No. 21 ( 2022-11-22), p. 957-961
    Abstract: A 58-year-old previously healthy woman presents with 3 years of rapidly progressive ataxia, parkinsonism, dysautonomia, peripheral neuropathy, leg weakness, spasticity, hyperreflexia, and mild vertical-gaze palsy. She has a matrilineal family history of neurodegenerative diseases. She was initially postulated to have spinocerebellar ataxia or atypical parkinsonism with cerebellar features. However, on closer inspection, her abnormal extraocular eye movements suggested rare mimicking disorders such as prion disease as part of the differential diagnosis, requiring further evaluation. This case highlights how deep phenotyping can open new diagnostic considerations, inform additional workup, and yield the precise diagnosis of Gerstmann-Sträussler-Scheinker syndrome (GSS).
    Type of Medium: Online Resource
    ISSN: 0028-3878 , 1526-632X
    RVK:
    Language: English
    Publisher: Ovid Technologies (Wolters Kluwer Health)
    Publication Date: 2022
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