Speech Biomarkers in Huntington's Disease: A Longitudinal Follow-Up Study in Premanifest Mutation Carriers.

Speech alterations have been reported in manifest Huntington's disease (HD) and premanifest mutation carriers (preHD). The aim of our study was to explore these alterations in preHD and whether they can be used as biomarkers. 13 preHD mutation carriers performed reading task, sustained phonation task and syllable repetition tasks at baseline and after 21 months, as well as clinical examination and MRI.

Isolated Hypoglossal Nerve Palsy as an Early Symptom of a Granular Cell Tumor.

Background: Hypoglossal nerve palsy (HNP) is rather common as a neurological disease. However, as an isolated nerve palsy it is an exceedingly rare phenomenon and points at local pathologies along the peripheral course of the nerve. In this communication we report a granular cell tumor (GCT) arising in the submandibular segment of the hypoglossal nerve.

From discourse to pathology: Automatic identification of Parkinson's disease patients via morphological measures across three languages.

Embodied cognition research on Parkinson's disease (PD) points to disruptions of frontostriatal language functions as sensitive targets for clinical assessment. However, no existing approach has been tested for crosslinguistic validity, let alone by combining naturalistic tasks with machine-learning tools. To address these issues, we conducted the first classifier-based examination of morphological processing (a core frontostriatal function) in spontaneous monologues from PD patients across three typologically different languages.

[Deep brain stimulation in movement disorders: evidence and therapy standards].

The deep brain stimulation (DBS) in movement disorders is well established and in many aspects evidence-based procedure. The treatment indications are very heterogeneous and very specific in their course and therapy. The deep brain stimulation plays very important, but usually not the central role in this conditions.

Rho-associated protein kinase 2 (ROCK2): a new target of autoimmunity in paraneoplastic encephalitis.

Onconeural antibodies are associated with cancer and paraneoplastic encephalitis. While their pathogenic role is still largely unknown, their high diagnostic value is undisputed. In this study we describe the discovery of a novel target of autoimmunity in an index case of paraneoplastic encephalitis associated with urogenital cancer.

Postoperative neuroimaging analysis of DRT deep brain stimulation revision surgery for complicated essential tremor.

Background: We report a patient who received conventional bilateral deep brain stimulation of the ventral intermediate nucleus of thalamus (Vim) for the treatment of medication refractory essential tremor (ET). After initial beneficial effects, therapeutic efficacy was lost due to a loss of control of his proximal trunkal and extremity tremor. The patient received successful diffusion tensor magnetic resonance imaging fiber tractographic (DTI FT)-assisted DBS revision surgery targeting the dentato-rubro-thalamic tract (DRT) in the subthalamic region (STR).

Is postoperative encephalopathy with choreoathetosis an acquired form of neuroacanthocytosis?

Postoperative encephalopathy with choreoathetosis ("postpump chorea") is a rare complication of open-heart surgery and, in particular, the employment of a cardiopulmonary bypass pump. It almost exclusively occurs in young children. While risk factors and the underlying histopathology have been identified, the pathogenesis of postpump chorea, crucially, remains largely unknown.

Two different phenomena in basic motor speech performance in premanifest Huntington disease.

Objective: Dysarthria is a common feature in Huntington disease (HD). The aim of this cross-sectional pilot study was the description and objective analysis of different speech parameters with special emphasis on the aspect of speech timing of connected speech and nonspeech verbal utterances in premanifest HD (preHD).

Methods: A total of 28 preHD mutation carriers and 28 age- and sex-matched healthy speakers had to perform a reading task and several syllable repetition tasks.

Characterization Methods for the Detection of Multiple Voice Disorders: Neurological, Functional, and Laryngeal Diseases.

This paper evaluates the accuracy of different characterization methods for the automatic detection of multiple speech disorders. The speech impairments considered include dysphonia in people with Parkinson's disease (PD), dysphonia diagnosed in patients with different laryngeal pathologies (LP), and hypernasality in children with cleft lip and palate (CLP). Four different methods are applied to analyze the voice signals including noise content measures, spectral-cepstral modeling, nonlinear features, and measurements to quantify the stability of the fundamental frequency.

Immunoglobulin-G4-related hypertrophic pachymeningitis with antineutrophil cytoplasmatic antibodies effectively treated with rituximab.

We describe a 52-year-old man with hypertrophic pachymeningitis (HP) who was both seropositive for antineutrophil cytoplasmatic antibodies (ANCA) against myeloperoxidase, and had an immunoglobulin G4 (IgG4) positive fibroinflammatory response in meningeal biopsy. HP is a chronic inflammatory thickening of the dura mater which typically presents with headache, cranial nerve dysfunction and other neurological deficits. While first-line treatment with corticosteroids is recommended, many patients relapse and need additional immunosuppression.

Phonatory dysfunction as a preclinical symptom of Huntington disease.

Purpose: Although dysphonia has been shown to be a common sign of Huntington disease (HD), the extent of phonatory dysfunction in gene positive premanifest HD individuals remains unknown. The aim of the current study was to explore the possible occurrence of phonatory abnormalities in prodromal HD.

Method: Sustained vowel phonations were acquired from 28 premanifest HD individuals and 28 healthy controls of comparable age.

Effect of subthalamic stimulation on voice and speech in Parkinson's disease: for the better or worse?

Background: Deep brain stimulation of the subthalamic nucleus, although highly effective for the treatment of motor impairment in Parkinson's disease (PD), can induce speech deterioration in a subgroup of patients. The aim of the current study was to survey (1) if there are distinctive stimulation effects on the different parameters of voice and speech and (2) if there is a special pattern of preexisting speech abnormalities indicating a risk for further worsening under stimulation.

Methods: N = 38 patients with PD had to perform a speech test without medication with stimulation ON (StimON) and stimulation OFF (StimOFF).

Impaired motor speech performance in Huntington's disease.

Dysarthria is a common symptom of Huntington's disease and has been reported, besides other features, to be characterized by alterations of speech rate and regularity. However, data on the specific pattern of motor speech impairment and their relationship to other motor and neuropsychological symptoms are sparse. Therefore, the aim of the present study was to describe and objectively analyse different speech parameters with special emphasis on the aspect of speech timing of connected speech and non-speech verbal utterances.

Mechanical thrombectomy - an alternative treatment option in a patient with acute ischemic stroke and multiple contraindications for systemic thrombolysis: a case report.

Introduction: Acute ischemic stroke is a common cause of disability and death in developed countries. Standard therapy for patients who present within 4.5 hours from the onset of symptoms is intravenous thrombolysis if contraindications such as oral anticoagulation, cancer or recent surgery are ruled out.

Effect of deep brain stimulation on speech performance in Parkinson's disease.

Deep brain stimulation (DBS) has been reported to be successful in relieving the core motor symptoms of Parkinson's disease (PD) and motor fluctuations in the more advanced stages of the disease. However, data on the effects of DBS on speech performance are inconsistent. While there are some series of patients documenting that speech function was relatively unaffected by DBS of the nucleus subthalamicus (STN), other investigators reported on improvements of distinct parameters of oral control and voice.

Refractory epileptic seizures due to vitamin B6 deficiency in a patient with Parkinson's disease under duodopa® therapy.

Levodopa/carbidopa intestinal gel (LCIG) infusion for the treatment of advanced Parkinson's disease (PD) has been suspected to provoke polyneuropathy in conjunction with vitamin B6, B12 and folate deficiency and elevated homocysteine levels. We describe a PD patient under LCIG therapy developing refractory epileptic seizures obviously promoted by vitamin B6 deficiency.

Novel APP/Aβ mutation K16N produces highly toxic heteromeric Aβ oligomers.

Here, we describe a novel missense mutation in the amyloid precursor protein (APP) causing a lysine-to-asparagine substitution at position 687 (APP770; herein, referred to as K16N according to amyloid-β (Aβ) numbering) resulting in an early onset dementia with an autosomal dominant inheritance pattern. The K16N mutation is located exactly at the α-secretase cleavage site and influences both APP and Aβ. First, due to the K16N mutation APP secretion is affected and a higher amount of Aβ peptides is being produced.

Impairment of vowel articulation as a possible marker of disease progression in Parkinson's disease.

Purpose: The aim of the current study was to survey if vowel articulation in speakers with Parkinson's disease (PD) shows specific changes in the course of the disease.

Method: 67 patients with PD (42 male) and 40 healthy speakers (20 male) were tested and retested after an average time interval of 34 months. Participants had to read a given text as source for subsequent calculation of the triangular vowel space area (tVSA) and vowel articulation index (VAI).

Multimodal CT imaging and recanalizing therapy in acute ischemic stroke: retrospective analysis of a one-year single-center experience.

Background: Recanalizing therapy in ischemic stroke is restricted to thrombolysis within 3 h. Multimodal imaging of vessel and parenchymal perfusion status may allow the extension of this time window.

Aim: To retrospectively analyze treatment results of any recanalizing therapy in clinical practice.

Acceleration of syllable repetition in Parkinson's disease is more prominent in the left-side dominant patients.

Background: In Parkinson's disease (PD), abnormalities of speech rate have been observed in spontaneous speech, reading tasks and syllable repetition tasks. Impaired temporal speech patterns have been contributed to dysfunctional basal ganglia circuits, but little is known about a possible differential role of right and left basal ganglia concerning speech production, although neurodegeneration in PD typically follows an asymmetrical pattern. The aim of our study was to reveal a possible influence of lateralized basal ganglia dysfunction on speech timing in PD.

Instability of syllable repetition in patients with spinocerebellar ataxia and Parkinson's disease.

Background: The aim of the current study was to test the hypothesis of a fundamental impairment of vocal pacing in patients with spinocerebellar ataxia and Parkinson's disease.

Methods: Thirty-one patients with spinocerebellar ataxia, 42 patients with Parkinson's disease, and 43 healthy controls had to repeat a single syllable at a self-chosen isochronous pace. The coefficient of variance for interval length and the change in interval length with successive utterances were used to describe pace stability.

Instability of syllable repetition in progressive supranuclear palsy.

Dysarthria is a prominent feature of progressive supranuclear palsy (PSP) and consists--amongst other features--of impaired speech fluency. Since in Parkinson's disease (PD) steadiness of syllable repetition in the course of the performance has been shown to be impaired, the aim of the present study was to investigate if measurement of syllable repetition shows similar or even more pronounced abnormalities in PSP. Thirty six patients with the clinical diagnosis of PSP (16 PSP-Richardson syndrome/PSP-RS and 20 PSP-parkinsonism/PSP-P), 60 patients with PD and 32 healthy speakers were tested.

Aspects of speech rate and regularity in Parkinson's disease.

The hypokinetic dysarthria of Parkinson's disease (PD) has been defined as a multidimensional impairment leading to abnormalities in speech breathing, phonation, articulation and prosody. The aspect of prosody can be subdivided into further dimensions, as for example stress and accentuation, intonation variability and speech rate and regularity. According to available data from literature and findings of our own published studies, the present review illuminates the concept that inconstancies of speech fluency in PD are characterized by modifications of the arrangement of speech pauses and by a tendency of pace acceleration in the course of the performance.