Family Functioning, Maternal Depression, and Adolescent Cognitive Flexibility and Its Associations with Adolescent Depression: A Cross-Sectional Study.

Background: This study explores family functioning and its associations with adolescent major depressive disorder (MDD), comparing its dynamics with healthy counterparts. Family functioning (cohesion, flexibility, communication, and satisfaction), maternal depressive symptoms, postpartum depression history, parental divorce, parental alcohol abuse, and the adolescents' cognitive flexibility, are examined. The research incorporates the perspectives of both adolescents and mothers.

The misidentification syndromes and source memory deficits with their neuroanatomical correlates from neuropsychological perspective.

The suggested model is discussed with reference to two clinical populations with memory disorders - patients with misidentification syndromes and those with source memory impairment, both of whom may present with (broadly conceived) déjà vu phenomenon, without insight into false feeling of familiarity. The role of the anterior thalamic nucleus and retrosplenial cortex for autobiographical memory and familiarity is highlighted.

Is there sufficient evidence for the association between executive dysfunction and academic performance in adolescents with major depressive disorder?: a systematic review.

Adult depression, undoubtedly associated with executive dysfunction, leads to poor work performance. As depression in adolescents may have a negative impact on school performance, we aimed to analyse the possible relationship between selected executive deficits and academic performance. Executive dysfunctions may have more severe consequences on school performance at high school, as this stage of education requires engagement in long-term goals, whether writing an essay or preparing for an exam.

Perry Disease: Expanding the Genetic Basis.

Background: 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 gene.

Objectives: This paper presents the first clinicopathological report of PS due to a novel mutation outside the CAP-Gly domain.

Measuring cognitive impairment and monitoring cognitive decline in Huntington's disease: a comparison of assessment instruments.

Background: Progressive cognitive decline is an inevitable feature of Huntington's disease (HD) but specific criteria and instruments are still insufficiently developed to reliably classify patients into categories of cognitive severity and to monitor the progression of cognitive impairment.

Methods: We collected data from a cohort of 180 positive gene-carriers: 33 with premanifest HD and 147 with manifest HD. Using a specifically developed gold-standard for cognitive status we classified participants into those with normal cognition, those with mild cognitive impairment, and those with dementia.

A Patient with Corticobasal Syndrome and Progressive Non-Fluent Aphasia (CBS-PNFA), with Variants in , , , and Genes.

Our aim was to analyze the phenotypic-genetic correlations in a patient diagnosed with early onset corticobasal syndrome with progressive non-fluent aphasia (CBS-PNFA), characterized by predominant apraxia of speech, accompanied by prominent right-sided upper-limb limb-kinetic apraxia, alien limb phenomenon, synkinesis, myoclonus, mild cortical sensory loss, and right-sided hemispatial neglect. Whole-exome sequencing (WES) identified rare single heterozygous variants in (c.3207C>A), (c.

Does progressive aphantasia exist? The hypothetical role of aphantasia in the diagnosis of neurodegenerative diseases.

Aphantasia is a heterogeneous neuropsychological syndrome consisting of the inability to create mental images. We argue that its progressive form may be a harbinger of dementia. Aphantasia may manifest as the inability to create any mental images or to create complex scenes, inability to spontaneously initiate generation of mental images, and/or inability to visualize a sequence of events.

Is deep brain stimulation effective in Huntington's Disease? - a systematic literature review.

Introduction: Huntington's Disease (HD) is an autosomal dominant neurodegenerative disorder. Substantial for a diagnosis of the disease are motor disorders, with chorea as a hallmark symptom. Other disease manifestations include cognitive dysfunction and psychiatric disorders.

Computer Aided Written Character Feature Extraction in Progressive Supranuclear Palsy and Parkinson's Disease.

Parkinson's disease (PD) and progressive supranuclear palsy (PSP) are neurodegenerative movement disorders associated with cognitive dysfunction. The Luria's Alternating Series Test (LAST) is a clinical tool sensitive to both graphomotor problems and perseverative tendencies that may suggest the dysfunction of prefrontal and/or frontostriatal areas and may be used in PD and PSP assessment. It requires the participant to draw a series of alternating triangles and rectangles.

Parkin beyond Parkinson's Disease-A Functional Meaning of Parkin Downregulation in TDP-43 Proteinopathies.

Parkin and PINK1 are key regulators of mitophagy, an autophagic pathway for selective elimination of dysfunctional mitochondria. To this date, parkin depletion has been associated with recessive early onset Parkinson's disease (PD) caused by loss-of-function mutations in the gene, while, in sporadic PD, the activity and abundance of this protein can be compromised by stress-related modifications. Intriguingly, research in recent years has shown that parkin depletion is not limited to PD but is also observed in other neurodegenerative diseases-especially those characterized by TDP-43 proteinopathies, such as amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD).

Two Rare Variants in and Genes-Do They Contribute to Semantic Dementia Clinical Phenotype?

We have performed whole-genome sequencing to identify the genetic variants potentially contributing to the early-onset semantic dementia phenotype in a patient with family history of dementia and episodic memory deficit accompanied with profound semantic loss. Only very rare variants of unknown significance (VUS) have been identified: a nonsense variant c.366C>A/p.

Arithmetic Word-Problem Solving as Cognitive Marker of Progression in Pre-Manifest and Manifest Huntington's Disease.

Background: Arithmetic word-problem solving depends on the interaction of several cognitive processes that may be affected early in the disease in gene-mutation carriers for Huntington's disease (HD).

Objective: Our goal was to examine the pattern of performance of arithmetic tasks in premanifest and manifest HD, and to examine correlations between arithmetic task performance and other neuropsychological tasks.

Methods: We collected data from a multicenter cohort of 165 HD gene-mutation carriers.

Clinical, pathological and genetic characteristics of Perry disease-new cases and literature review.

Background And Purpose: Perry disease (or Perry syndrome) is an autosomal dominant neurodegenerative disorder characterized by parkinsonism, neuropsychiatric symptoms, central hypoventilation, weight loss and distinct TDP-43 pathology. It is caused by mutations of the DCTN1 gene encoding an essential component of axonal transport. The objectives were to provide the current state of knowledge on clinical, pathological and genetic aspects of Perry disease, as well as practical suggestions for the management of the disease.

The assessment of cognitive and behavioural disturbances in vascular cognitive impairment (VCI) - recommendations of an expert working group.

With newer research-based classification systems, the term Vascular Cognitive Impairment (VCI) is now preferred to vascular dementia. VCI is an umbrella term that includes all forms of cognitive deficits ranging from mild cognitive impairment of vascular origin (VaMCI) to vascular dementia (VaD). The new VCI construct takes into account the fact that in addition to single strategic infarcts, multiple infarcts, and leukoaraiosis, there are other mechanisms of cerebrovascular disease such as chronic hypoperfusion that might account for the pattern of cognitive deficits associated with vascular dementia.

The Impact of Subthalamic Deep Brain Stimulation on Restless Legs Syndrome in Parkinson's Disease.

Introduction: The study aimed at evaluating the effect of subthalamic deep brain stimulation (DBS-STN) on restless legs syndrome (RLS) in Parkinson's disease (PD) patients.

Materials And Methods: We assessed the presence of RLS before and 6 and 12 months after surgery in 36 patients. Differences between patients with RLS, without RLS, and with remission of RLS in terms of sleep measures (interview and validated questionnaires) and nonmotor symptoms (NMS).

Cognitive and behavioral profile of Perry syndrome in two families.

Objective: Perry syndrome (PS) is a rare neurodegenerative disorder with autosomal dominant inheritance caused by point mutations in DCTN1 and characterized by parkinsonism, hypoventilation, weight loss, and psychiatric symptoms. Even though behavioral manifestation is a main feature of PS, detailed neuropsychological assessment was not performed in this cohort. In this study, the neuropsychological profile of individuals from one Polish and one Colombian family are presented.

Acute Sprint Interval Exercise Increases Both Cognitive Functions and Peripheral Neurotrophic Factors in Humans: The Possible Involvement of Lactate.

There is increasing attention to sprint interval exercise (SIE) training as a time-efficient exercise regime. Recent studies, including our own (Kujach et al., 2018), have shown that acute high-intensity intermittent exercise can improve cognitive function; however, the neurobiological mechanisms underlying the effect still remain unknown.

Utility of the Parkinson's disease-Cognitive Rating Scale for the screening of global cognitive status in Huntington's disease.

Background: Cognitive impairment is an essential feature of Huntington's disease (HD) and dementia is a predictable outcome in all patients. However, validated instruments to assess global cognitive performance in the field of HD are lacking.

Objectives: We aimed to explore the utility of the Parkinson's disease-Cognitive Rating Scale (PD-CRS) for the screening of global cognition in HD.

Prevalence and predictors of post-stroke spasticity and its impact on daily living and quality of life.

Background And Aims: The present study aimed to assess the frequency of spasticity in a single-centre cohort of stroke patients in a one-year follow-up, its predictors, and its impact on the activities of daily living (ADL) and health-related quality of life (HRQoL).

Material And Methods: A group of 121 consecutive patients with hemiparesis (aged 73 ± 11 years) was selected for further observation, out of 381 Stroke Department patients during one year. At three follow-up assessments three, six and 12 months after stroke, muscle tone and muscle weakness were rated using Modified Ashworth Scale (MAS) and Medical Research Council (MRC); Activities of Daily Living (ADL) and Health Related Quality of Life (HRQoL) were evaluated using the Barthel Index (BI), Modified Rankin Scale (mRS) and an SF-36 questionnaire.

The impact of subthalamic deep brain stimulation on sleep and other non-motor symptoms in Parkinson's disease.

Introduction: The non-motor symptoms have a major impact on quality of life in patients with Parkinson Disease (PD). We present results of the study on the impact of subthalamic deep brain stimulation (DBS-STN) on sleep and other non-motor symptoms in PD patients.

Materials And Methods: Thirty-six patients with advanced PD were included into the study.

Functional characterization of a novel progranulin mutation in a patient with progressive nonfluent aphasia.

Loss-of-function mutations in progranulin (PGRN) gene cause frontotemporal lobar degeneration. Here, we report a case of a 63-year-old woman with a 2-year history of speech impairment, diagnosed with a nonfluent variant of primary progressive aphasia, a subtype of frontotemporal lobar degeneration. In this patient, a novel heterozygous frameshift mutation, c.

The pattern of verbal, visuospatial and procedural learning in Richardson variant of progressive supranuclear palsy in comparison to Parkinson's disease.

Objectives: Progressive supranuclear palsy (PSP) is regarded either within spectrum of atypical parkinsonian syndromes or frontotemporal lobar degeneration. We compared the verbal, visuospatial and procedural learning profiles in patients with PSP and Parkinson's disease (PD). Furthermore, the relationship between executive factors (initiation and inhibition) and learning outcomes was analyzed.