The novel p.A30G SNCA pathogenic variant in Greek patients with familial and sporadic Parkinson's disease.

Background: The p.A53T variant in the SNCA gene was considered, until recently, to be the only SNCA variant causing familial Parkinson's disease (PD) in the Greek population. We identified a novel heterozygous p.

Precision Dopaminergic Treatment in a Cohort of Parkinson's Disease Patients Carrying Autosomal Recessive Gene Variants: Clinical Cohort Data and a Mini Review.

Introduction: Parkinson's disease (PD) patients harboring recessive gene variants exhibit a distinct clinical phenotype with an early disease onset and relatively mild symptoms. Data concerning individualized therapy for autosomal recessive PD forms are still scarce.

Methods: Demographic and treatment data of a cohort of PD carriers of recessive genes (nine homozygous or compound heterozygous carriers, four heterozygous carriers, and three biallelic carriers) were evaluated.

A Methodological Approach to Quantifying Silent Pauses, Speech Rate, and Articulation Rate across Distinct Narrative Tasks: Introducing the Connected Speech Analysis Protocol (CSAP).

The examination of connected speech may serve as a valuable tool for exploring speech output in both healthy speakers and individuals with language disorders. Numerous studies incorporate various fluency and silence measures into their analyses to investigate speech output patterns in different populations, along with the underlying cognitive processes that occur while speaking. However, methodological inconsistencies across existing studies pose challenges in comparing their results.

Investigating silent pauses in connected speech: integrating linguistic, neuropsychological, and neuroanatomical perspectives across narrative tasks in post-stroke aphasia.

Introduction: Silent pauses are regarded as integral components of the temporal organization of speech. However, it has also been hypothesized that they serve as markers for internal cognitive processes, including word access, monitoring, planning, and memory functions. Although existing evidence across various pathological populations underscores the importance of investigating silent pauses' characteristics, particularly in terms of frequency and duration, there is a scarcity of data within the domain of post-stroke aphasia.

Investigating Aphasia Recovery: Demographic and Clinical Factors.

Post-stroke language recovery remains one of the main unresolved topics in the field of aphasia. In recent years, there have been efforts to identify specific factors that could potentially lead to improved language recovery. However, the exact relationship between the recovery of particular language functions and possible predictors, such as demographic or lesion variables, is yet to be fully understood.

Unraveling the Thread of Aphasia Rehabilitation: A Translational Cognitive Perspective.

Translational neuroscience is a multidisciplinary field that aims to bridge the gap between basic science and clinical practice. Regarding aphasia rehabilitation, there are still several unresolved issues related to the neural mechanisms that optimize language treatment. Although there are studies providing indications toward a translational approach to the remediation of acquired language disorders, the incorporation of fundamental neuroplasticity principles into this field is still in progress.

Exploring Pragmatic Deficits in Relation to Theory of Mind and Executive Functions: Evidence from Individuals with Right Hemisphere Stroke.

Research investigating pragmatic deficits in individuals with right hemisphere damage focuses on identifying the potential mechanisms responsible for the nature of these impairments. Nonetheless, the presumed shared cognitive mechanisms that could account for these deficits have not yet been established through data-based evidence from lesion studies. This study aimed to examine the co-occurrence of pragmatic language deficits, Theory of Mind impairments, and executive functions while also exploring their associations with brain lesion sites.

Moyamoya Disease: Clinical and Radiological Characteristics in Adult Greek Patients.

Background And Purpose: The aim of our study is to present, for the first time, the clinical, radiological, and neurocognitive characteristics of Greek adult patients with Moyamoya disease (MMD).

Methods: We analyzed prospectively collected data of 12 patients referred to our department from 2004 to 2019. All patients underwent a thorough diagnostic work up, including extensive clinical, neuroradiological, and neurocognitive assessment.

Is There a Role of Inferior Frontal Cortex in Motor Timing? A Study of Paced Finger Tapping in Patients with Non-Fluent Aphasia.

The aim of the present study was to investigate the deficits in timing reproduction in individuals with non-fluent aphasia after a left hemisphere lesion including the inferior frontal gyrus, in which Broca's region is traditionally localised. Eighteen stroke patients with non-fluent aphasia and twenty-two healthy controls were recruited. We used a finger-tapping Test, which consisted of the synchronisation and the continuation phase with three fixed intervals (450 ms, 650 ms and 850 ms).

Early metabolic alterations in the normal‑appearing grey and white matter of patients with clinically isolated syndrome suggestive of multiple sclerosis: A proton MR spectroscopic study.

Proton magnetic resonance spectroscopy (H-MRS) is an advanced method of examining metabolic profiles. The present study aimed to assess metabolite levels in areas of normal-appearing grey (thalamus) and white matter (centrum semiovale) using H-MRS in patients with clinically isolated syndrome (CIS) suggestive of multiple sclerosis and compare them to healthy controls (HCs). Data from 35 patients with CIS (CIS group), of which 23 were untreated (CIS-untreated group) and 12 were treated (CIS-treated group) with disease-modifying-therapies (DMTs) at the time of H-MRS, and from 28 age- and sex-matched HCs were collected using a 3.

Shoulder Dysfunction in Parkinson Disease: Review of Clinical, Imaging Findings and Contributing Factors.

This study aimed to review shoulder clinical and imaging findings in Parkinson's disease (PD), focusing on the significance of timely diagnosis and management of shoulder dysfunction in PD for the prevention of shoulder-related complications. A bibliographical search was employed, using "Parkinson's" and "Shoulder Dysfunction" as keywords. A Magnetic Resonance Imaging, twenty clinical and three US studies were selected as relevant to shoulder dysfunction in PD.

Screening for the FMR1 premutation in Greek patients with late-onset movement disorders.

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset, X-linked, neurodegenerative disorder that affects premutation carriers of the FMR1 gene. FXTAS is often misdiagnosed as spinocerebellar ataxia (SCA) or Parkinson's disease (PD). Herein, we sought to investigate the frequency, genotypic and phenotypic profile of FXTAS in two cohorts of Greek patients with late-onset movement disorders, one with cerebellar ataxia and the other with PD.

Silent Pauses and Speech Indices as Biomarkers for Primary Progressive Aphasia.

: Recent studies highlight the importance of investigating biomarkers for diagnosing and classifying patients with primary progressive aphasia (PPA). Even though there is ongoing research on pathophysiological indices in this field, the use of behavioral variables, and especially speech-derived factors, has drawn little attention in the relevant literature. The present study aims to investigate the possible utility of speech-derived indices, particularly silent pauses, as biomarkers for primary progressive aphasia (PPA).

Common Neuroanatomical Substrate of Cholinergic Pathways and Language-Related Brain Regions as an Explanatory Framework for Evaluating the Efficacy of Cholinergic Pharmacotherapy in Post-Stroke Aphasia: A Review.

Despite the relative scarcity of studies focusing on pharmacotherapy in aphasia, there is evidence in the literature indicating that remediation of language disorders via pharmaceutical agents could be a promising aphasia treatment option. Among the various agents used to treat chronic aphasic deficits, cholinergic drugs have provided meaningful results. In the current review, we focused on published reports investigating the impact of acetylcholine on language and other cognitive disturbances.

Specific disruption of the ventral anterior temporo-frontal network reveals key implications for language comprehension and cognition.

Recent investigations have raised the question of the role of the anterior lateral temporal cortex in language processing (ventral language network). Here we present the language and overall cognitive performance of a rare male patient with chronic middle cerebral artery cerebrovascular accident with a well-documented lesion restricted to the anterior temporal cortex and its connections via the extreme capsule with the pars triangularis of the inferior frontal gyrus (i.e.

Preserved visuospatial abilities in absence of the right hemisphere: A case of cerebral hemiatrophy with minimal cognitive impairment.

Cerebral hemiatrophy is a rare neurological condition, usually resulting in severe and diffuse cognitive impairment. In this paper we present a 69-year old woman with notable congenital hemiatrophy with strikingly preserved cognitive functions. Cognitive assessment indicated that although her executive functions were found impaired, the remaining cognitive domains were relatively unaffected.

Neurocognitive Profiles of Caucasian Moyamoya Disease Patients in Greece: A Case Series.

The impact of Moyamoya Disease (MMD) on cognition inadult Caucasian patients has not yet been thoroughly investigated. The current study is the first to present detailed neuropsychological data on a series of Greek patients with MMD. A group of eight patients was assessed with an extensive neuropsychological battery, including measures of episodic memory, working memory, executive functions, language, and social cognition.

Structural and functional brain changes in X-linked Charcot-Marie-Tooth disease: insights from a multimodal neuroimaging study.

Purpose: Brain involvement in X-linked Charcot-Marie-Tooth disease (CMTX) has been previously reported. We studied the brain structural and functional integrity using a multimodal neuroimaging approach in patients with no current central nervous system (CNS) symptoms, in order to further delineate the disease's phenotype.

Methods: Seventeen CMTX patients with no current CNS symptoms and 24 matched healthy controls underwent brain magnetic resonance imaging (MRI).