Clinical Variability in P102L Gerstmann-Sträussler-Scheinker Syndrome.

Gerstmann-Sträussler-Scheinker syndrome (GSS) with the P102L mutation is a rare genetic prion disease caused by a pathogenic mutation at codon 102 in the prion protein gene. Cluster analysis encompassing data from 7 Czech patients and 87 published cases suggests the existence of 4 clinical phenotypes (typical GSS, GSS with areflexia and paresthesia, pure dementia GSS, and Creutzfeldt-Jakob disease-like GSS); GSS may be more common than previously estimated. In making a clinical diagnosis or progression estimates of GSS, magnetic resonance imaging and real-time quaking-induced conversion may be helpful, but the results should be evaluated with respect to the overall clinical context.

Quantitative Analysis of Relationship Between Hypokinetic Dysarthria and the Freezing of Gait in Parkinson's Disease.

Hypokinetic dysarthria (HD) and freezing of gait (FOG) are both axial symptoms that occur in patients with Parkinson's disease (PD). It is assumed they have some common pathophysiological mechanisms and therefore that speech disorders in PD can predict FOG deficits within the horizon of some years. The aim of this study is to employ a complex quantitative analysis of the phonation, articulation and prosody in PD patients in order to identify the relationship between HD and FOG, and establish a mathematical model that would predict FOG deficits using acoustic analysis at baseline.

Neuromechanical Modelling of Articulatory Movements from Surface Electromyography and Speech Formants.

Speech articulation is produced by the movements of muscles in the larynx, pharynx, mouth and face. Therefore speech shows acoustic features as formants which are directly related with neuromotor actions of these muscles. The first two formants are strongly related with jaw and tongue muscular activity.

Vowel Articulation Dynamic Stability Related to Parkinson's Disease Rating Features: Male Dataset.

Neurodegenerative pathologies as Parkinson's Disease (PD) show important distortions in speech, affecting fluency, prosody, articulation and phonation. Classically, measurements based on articulation gestures altering formant positions, as the Vocal Space Area (VSA) or the Formant Centralization Ratio (FCR) have been proposed to measure speech distortion, but these markers are based mainly on static positions of sustained vowels. The present study introduces a measurement based on the mutual information distance among probability density functions of kinematic correlates derived from formant dynamics.

Parkinson Disease Detection from Speech Articulation Neuromechanics.

The research described is intended to give a description of articulation dynamics as a correlate of the kinematic behavior of the jaw-tongue biomechanical system, encoded as a probability distribution of an absolute joint velocity. This distribution may be used in detecting and grading speech from patients affected by neurodegenerative illnesses, as Parkinson Disease. The work hypothesis is that the probability density function of the absolute joint velocity includes information on the stability of phonation when applied to sustained vowels, as well as on fluency if applied to connected speech.

Arterial spin labelling detects posterior cortical hypoperfusion in non-demented patients with Parkinson's disease.

While previous studies suggested that perfusion abnormalities in Parkinson's disease (PD) are driven by dementia, our study aimed to identify perfusion underpinning of cognitive alteration in non-demented PD patients. Cerebral blood flow was measured using arterial spin labelling (ASL) in 28 PD patients (age 65 years ± 9.9 SD) and 16 age-matched healthy controls (HC) (age 65 years ± 7.

Speech prosody impairment predicts cognitive decline in Parkinson's disease.

Background: Impairment of speech prosody is characteristic for Parkinson's disease (PD) and does not respond well to dopaminergic treatment.

Objectives: We assessed whether baseline acoustic parameters, alone or in combination with other predominantly non-dopaminergic symptoms may predict global cognitive decline as measured by the Addenbrooke's cognitive examination (ACE-R) and/or worsening of cognitive status as assessed by a detailed neuropsychological examination.

Methods: Forty-four consecutive non-depressed PD patients underwent clinical and cognitive testing, and acoustic voice analysis at baseline and at the two-year follow-up.

Prosodic analysis of neutral, stress-modified and rhymed speech in patients with Parkinson's disease.

Background And Objective: Hypokinetic dysarthria (HD) is a frequent speech disorder associated with idiopathic Parkinson's disease (PD). It affects all dimensions of speech production. One of the most common features of HD is dysprosody that is characterized by alterations of rhythm and speech rate, flat speech melody, and impairment of speech intensity control.

Distinct Pattern of Gray Matter Atrophy in Mild Alzheimer's Disease Impacts on Cognitive Outcomes of Noninvasive Brain Stimulation.

Background: Repetitive transcranial magnetic stimulation (rTMS) is a promising tool to study and modulate brain plasticity.

Objective: Our aim was to investigate the effects of rTMS on cognitive functions in patients with mild cognitive impairment and Alzheimer's disease (MCI/AD) and assess the effect of gray matter (GM) atrophy on stimulation outcomes.

Methods: Twenty MCI/AD patients participated in the proof-of-concept controlled study.

Addenbrooke's Cognitive Examination and Individual Domain Cut-Off Scores for Discriminating between Different Cognitive Subtypes of Parkinson's Disease.

Objective. The main aim of this study was to verify the sensitivity and specificity of Addenbrooke's Cognitive Examination-Revised (ACE-R) in discriminating between Parkinson's disease (PD) with normal cognition (PD-NC) and PD with mild cognitive impairment (PD-MCI) and between PD-MCI and PD with dementia (PD-D). We also evaluated how ACE-R correlates with neuropsychological cognitive tests in PD.

Non-invasive brain stimulation of the right inferior frontal gyrus may improve attention in early Alzheimer's disease: a pilot study.

Introduction: Repetitive transcranial magnetic stimulation (rTMS) is a noninvasive tool for modulating cortical activity.

Objectives: In this pilot study, we evaluated the effects of high frequency rTMS applied over the right inferior frontal gyrus (IFG) on cognitive functions in patients with amnestic mild cognitive impairment (MCI) or incipient dementia due to Alzheimer's disease (AD).

Methods: Ten patients (6 men; 4 women, mean age of 72 ± 8 years; MMSE 23 ± 3.