Head and voice tremor improving with immunotherapy in an anti-NF155 positive CIDP patient.
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SUBMITTER: Painous C
PROVIDER: S-EPMC5899910 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:ImportanceEssential vocal tremor (EVT) is a neurologic voice disorder characterized by periodic fluctuations in pitch and loudness that can hinder intelligibility. Defining the normative range of vocal tremor frequency may assist in diagnosis and provide insight into disease mechanisms.ObjectiveTo characterize the normative voice tremor frequency in EVT (in hertz).Design, setting, and participantsCross-sectional observational study of 160 patients with EVT. The setting was a tertiary voice center. Participants were identified from a database of consecutive patients diagnosed as having laryngeal movement disorders between January 1, 1990, and April 1, 2017.Main outcomes and measuresThe following 3 methods measured the frequency of tremor experienced by patients with EVT: perceptual method, computerized peak detection method, and laryngeal electromyography method. Within-person and population-level tremor frequencies were compared across modalities to assess measurement reliability and consistency and to characterize the normal distribution of tremor frequencies in this population.ResultsAmong 160 participants (median age, 70 years; interquartile range [IQR], 64-77 years; 90.6% female [n = 145]), the median frequency of EVT was consistently between 4 and 5 Hz across all 3 methods (perceptual, 4.8 Hz [IQR, 4.4-5.5 Hz]; computerized peak detection, 4.6 Hz [IQR, 4.2-5.0 Hz]; and laryngeal electromyography, 4.3 Hz [IQR, 3.8-5.0 Hz]). The mean in-person differences between each measurement method were not clinically meaningful (range, 0.1-0.5 Hz). Including all interquartile ranges across measurement modalities, the normative tremor frequency range for EVT was 3.8 to 5.5 Hz.Conclusions and relevanceTo our knowledge, this is the largest study to date to characterize the normal frequency of tremor in patients with EVT. The normative frequency of EVT (range, 3.8-5.5 Hz) falls within a much narrower range than previously reported. Those whose frequency is outside this range may still have EVT but should be carefully evaluated for potential other causes of vocal tremor. Defining characteristics of EVT may aid appropriate diagnosis and improve understanding of this disease.
| S-EPMC6583089 | biostudies-literature
Project description:ObjectiveTo describe the frequency of antibodies against neurofascin in chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) and the associated clinical features.MethodsImmunocytochemistry was used to identify antibodies to neurofascin 155 (NF155) and 186. Serum reactivity with paranodes and brain tissue was tested with immunohistochemistry of teased-nerve fibers and rat brain. Antibody titers and immunoglobulin (Ig) G isotypes were determined using ELISA. Clinical information was obtained retrospectively.ResultsTwo of 53 patients, but none of 204 controls, had antibodies to NF155 (p = 0.041). The 2 patients with NF155 antibodies developed severe polyradiculoneuropathy with predominant distal weakness that was refractory to IVIg. Eight additional patients with IVIg-refractory CIDP were then identified from a national database; 2 of them with the same clinical features also had NF155 antibodies. Overall, 3 of the 4 patients with NF155 antibodies had a disabling and characteristic tremor (high amplitude, low frequency, postural, and intention). Patients' antibodies reacted with the paranodes in teased-nerve fibers and with the neuropil of rat cerebellum, brain, and brainstem. Anti-NF155 antibodies were predominantly of the IgG4 isotype in all patients.ConclusionPatients with CIDP positive for IgG4 NF155 antibodies constitute a specific subgroup with a severe phenotype, poor response to IVIg, and disabling tremor. Autoantibodies against paranodal structures associate with distinct clinical features in CIDP and their identification has diagnostic, prognostic, and therapeutic implications.Classification of evidenceThis study provides Class IV evidence that autoantibodies to NF155 identify a CIDP subtype characterized by severe neuropathy, poor response to IVIg, and disabling tremor.
| S-EPMC3959751 | biostudies-literature
Project description:PurposeHealth literacy is a current Public Health priority in Portugal. The participation of well-informed patients in their care and shared decision making are essential, especially in chronic aggressive and debilitating pathologies such as recurrent or metastatic (R/M) Head and Neck Squamous Cell Carcinoma (HNSCC).AimsThis study aimed to characterize R/M HNSCC patients' and caregivers' information needs identified by healthcare professionals (HCPs).MethodsTwo online Focus Groups, one with only medical doctors and the other with other HCPs involved in the treatment of R/M HNSCC patients, were conducted, using a modified Metaplan, Lean or adapted PDCA methodology. The discussions were audio recorded in full and content analysis was performed using ATLAS.ti qualitative data analysis software.ResultsTopics addressed were diagnosis, treatment, quality of life, and global evaluation. In general, all experts agreed that only essential information should be cautiously given, according to patients' and caregivers' wishes. It was consensual that patients are given the necessary information to adhere to treatment. Two main barriers were identified: one barrier was associated with verbal communication due to the lack of health literacy of these patients, and the other barrier regarded healthcare access. It was also considered important to remind patients of the daily and social activities that they could and should maintain, as well as providing sufficient social resources and problem-solving training to caregivers.ConclusionsThis qualitative study highlights the complexity of R/M HNSCC patients' care. Immediate availability of psychologists and psychiatrists should be implemented in all centers that treat HNSCC patients. The differences found between the physicians' Focus Group and other HCPs' Focus Group in some of the addressed topics emphasize the importance of a multidisciplinary and holistic approach, in a biomedical model integrated with a biopsychosocial model.
| S-EPMC10821956 | biostudies-literature
Project description:Human papilloma virus (HPV) associated oropharynx carcinoma (OPC) is increasingly common, with a distinct biology from HPV negative OPC. In spite of this better prognosis, morbidity is significant and treatment related after effects can be debilitating. Because the foreign viral proteins that drive HPV+ cancers are known, there are multiple options for tailored immune therapies. Herein we review the immunologic basis for disease and emerging immune therapies. The oncogenesis of HPV+ SCCHN goes beyond cell cycle deregulation, and relies on the immune escape through (E5, E6, and E7) downregulating antigen processing, interferon response, as well as STAT-1 signaling. Individual susceptibilities to HPV infection may vary. The treatment of HPV+ cancers has had a wide range of successes and failures. Perhaps the shining example of immunoprevention has been the L1 protein vaccines developed for cervical cancer prevention, however this vaccine has not been beneficial for people already infected. Therefore multiple strategies have been employed in the cancer therapeutic realm for people with existing disease. These agents range from peptides, to viral vectors, to adoptive cell therapy. In this review we consider the work done in both SCCHN and cervical cancer, as these therapeutic targets are the similar. The listed studies are not exhaustive, but rather illustrate experimental design and approach.
| S-EPMC4437525 | biostudies-literature
Project description:BackgroundAlthough head tremor (HT) and pain are prevalent in cervical dystonia (CD), their joint relationship to phenotypic features of focal dystonia remains unclear.ObjectivesWe examined how severity of HT and pain are associated with age of CD onset and duration, and whether HT subtypes ("jerky" or "regular") exhibit distinct relationships between severity of HT and pain.MethodsThe severity of HT and pain were assessed with the Toronto Western Spasmodic Torticollis Rating Scale in retrospective review of 188 CD patients recruited through the Dystonia Coalition.ResultsHT severity was associated with longer CD duration (p < 0.0005), whereas pain severity was associated with younger age at onset (p = 0.043). HT severity and pain severity were not correlated for jerky HT (p = 0.996), but positively correlated for regular HT (p = 0.01).ConclusionsThe distinct associations of HT and pain with age at onset, disease duration, and HT subtype further characterize the heterogeneity of CD's clinical presentation and suggest similarly heterogeneous underlying mechanisms.
| S-EPMC8076053 | biostudies-literature
Project description:The cerebral network associated with Holmes tremor has never been determined directly. A previous study reported a brain network that is functionally connected, in healthy individuals, to different lesions that cause Holmes tremor (lesion connectome). We report a 71-year-old man with severe left-sided tremor caused by a microbleed near the right red nucleus. Using accelerometry-fMRI, we show tremor-related activity in contralateral sensorimotor cortex and cerebellar vermis. This network was distinct from, but functionally coupled to, the Holmes lesion connectome. We propose that Holmes tremor involves three distinct cerebral mechanisms: a structural lesion, an intermediate lesion connectome, and symptom-related activity.
| S-EPMC7448163 | biostudies-literature
Project description:Classically, the onset of head tremor in essential tremor (ET) patients follows that of hand tremor, such that there is a somatotopic spread of involved areas. Here we present a series of seven self-reportedly "unaffected" relatives of ET cases. These seven were clinically asymptomatic and had normal levels of arm tremor on examination, yet each evidenced a transient head wobble on examination. We estimate the prevalence of this phenotype within the two studies from which cases were ascertained.ET cases and their self-reportedly affected and unaffected relatives, enrolled in two family studies, underwent a medical history and videotaped neurological examination.In seven self-reportedly "unaffected" relatives, a transient and subtle head wobble was seen, always during sustained phonation, speech, or reading aloud. Total tremor score (a measure of arm tremor) ranged from 5 to 12 (i.e., mild tremor within the range of normal). The prevalence of this phenotype of early head tremor was 3.7% in one study and 23.1% in the other.We present a series of seven individuals who had early head tremor in an evolving transition state from normal to ET. These cases raise a number of broad clinical, phenotypic, and pathophysiological issues about ET.
| S-EPMC5374515 | biostudies-other
Project description:Autoimmune movement disorders are increasingly recognized, but isolated tremor is extremely rare. We describe a 70-year-old male with rapidly progressive, severe postural and intention tremor and weight loss. His cerebrospinal fluid was inflammatory and harbored a neural tissue-restricted antibody. The autoantigen was identified by immunoprecipitation and mass spectrometry and confirmed by antigen-specific assays to be specific for tenascin-R. He was investigated for cancer and diagnosed with follicular lymphoma that expressed tenascin-R suggesting a paraneoplastic origin; cancer treatment and immunotherapy led to complete recovery. With this individualized patient approach and antibody discovery, we expand the spectrum of antibodies accompanying autoimmune hyperkinetic movement disorders. ANN NEUROL 2023;94:502-507.
| S-EPMC10527205 | biostudies-literature
Project description:BackgroundAlthough abnormal head and neck postures are defining features of cervical dystonia (CD), head tremor (HT) is also common. However, little is known about the relationship between abnormal postures and HT in CD.MethodsWe analyzed clinical data and video recordings from 185 patients enrolled by the Dystonia Coalition. We calculated the likelihood of their HT and HT type ("regular" vs. "jerky") given directionality of abnormal head postures, disease duration, sex, and age.ResultsPatients with retrocollis were more likely to have HT than patients with anterocollis (X2 (1, N = 121) = 7.98, p = 0.005). There was no difference in HT likelihood given left or right turning in laterocollis and rotation. Patients with HT had longer disease duration (t(183) = 2.27, p = 0.024). There was no difference in age between patients with and without HT. In a logistic regression model, anterocollis/retrocollis direction (X2 (1, N = 121) = 6.04, p = 0.014), disease duration (X2 (1, N = 121) = 7.28, p = 0.007), and the interaction term between age and disease duration (X2 (1, N = 121) = 7.77, p = 0.005) collectively contributed to HT likelihood. None of the postural directionality or demographic variables were associated with differential likelihood of having regular versus jerky HT.DiscussionWe found that HT is more likely for CD patients with a specific directionality in their predominant posture. Our finding that CD patients with longer disease duration have a higher likelihood of HT also raises the question of whether HT becomes more likely over time in individual patients.
| S-EPMC6988138 | biostudies-literature
Project description:ObjectivesAlthough patient-reported outcome measures (PROMs) can be useful for assessing quality of life, they can be complex and cognitively burdensome. In this study, we prospectively evaluated a simple patient-reported voice assessment measure on a visual analog scale (VAS voice) and compared it with the Voice Handicap Index (VHI-10).Study designProspective survey.MethodsAn abbreviated voice measure was designed by a team of otolaryngologists, speech pathologists, and patients that consisted of four VAS questions related to (a) a global question of voice disturbance, (b) physical function of voice, (c) functional issues, and (d) emotional handicap. All English-speaking patients presenting to an academic laryngology clinic for a voice complaint were included. Internal consistency and validity were assessed with comparison to the VHI-10.ResultsA total of 209 patients were enrolled. Ninety-two percent of patients reported understanding the survey. The four-item VAS survey was highly correlated with VHI-10 score (Pearson correlation .81, P < .0001), and the Cronbach's alpha between all four VAS questions was .94. Age, gender, and diagnosis were not associated with either the global VAS or VHI-10 tool.ConclusionReducing the complexity of instruments assessing voice-related quality of life is feasible, and the VAS voice correlated with existing measures. Simplified assessments may offer advantages compared to more cumbersome PROMs.Level of evidence2c.
| S-EPMC7042645 | biostudies-literature