A resting-state fMRI pattern of spinocerebellar ataxia type 3 and comparison with F-FDG PET.

Spinocerebellar ataxia type 3 (SCA3) is a rare genetic neurodegenerative disease. The neurobiological basis of SCA3 is still poorly understood, and up until now resting-state fMRI (rs-fMRI) has not been used to study this disease. In the current study we investigated (multi-echo) rs-fMRI data from patients with genetically confirmed SCA3 (n = 17) and matched healthy subjects (n = 16).

Structural Network Analysis Using Diffusion MRI Tractography in Parkinson's Disease and Correlations With Motor Impairment.

Functional impairment of spatially distributed brain regions in Parkinson's disease (PD) suggests changes in integrative and segregative network characteristics, for which novel analysis methods are available. To assess underlying structural network differences between PD patients and controls, we employed MRI T1 gray matter segmentation and diffusion MRI tractography to construct connectivity matrices to compare patients and controls with data originating from two different centers. In the Dutch dataset (Data-NL), 14 PD patients, and 15 healthy controls were analyzed, while 19 patients and 18 controls were included in the Canadian dataset (Data-CA).

Emotion Recognition and Traffic-Related Risk-Taking Behavior in Patients with Neurodegenerative Diseases.

Objectives: Neurodegenerative diseases (NDDs), such as Alzheimer's disease, frontotemporal dementia, dementia with Lewy bodies, and Huntington's disease, inevitably lead to impairments in higher-order cognitive functions, including the perception of emotional cues and decision-making behavior. Such impairments are likely to cause risky daily life behavior, for instance, in traffic. Impaired recognition of emotional expressions, such as fear, is considered a marker of impaired experience of emotions.

The cerebral metabolic topography of spinocerebellar ataxia type 3.

Introduction: We aimed to uncover the pattern of network-level changes in neuronal function in Spinocerebellar ataxia type 3 (SCA3).

Methods: 17 genetically-confirmed SCA3 patients and 16 controls underwent structural MRI and static resting-state [F]‑Fluoro‑deoxyglucose Positron Emission Tomography (FDG-PET) imaging. A SCA3-related pattern (SCA3-RP) was identified using a multivariate method (scaled subprofile model and principal component analysis (SSM PCA)).

Integrated and Person-Centered Care for Community-Living Older Adults: A Cost-Effectiveness Study.

Objectives: To assess the cost-effectiveness of Embrace, an integrated primary care service for older adults.

Data Sources: Care and support claims from health care insurers, long-term care administration, and municipalities for enrolled older adults between 2011 and 2013.

Study Design: A total of 1,456 older adults, listed with 15 general practitioners practices in the Netherlands, were stratified into risk profiles ("Robust," "Frail," and "Complex care needs") and randomized to Embrace or care-as-usual groups.

Effects of a population-based, person-centred and integrated care service on health, wellbeing and self-management of community-living older adults: A randomised controlled trial on Embrace.

Objective: To evaluate the effects of the population-based, person-centred and integrated care service 'Embrace' at twelve months on three domains comprising health, wellbeing and self-management among community-living older people.

Methods: Embrace supports older adults to age in place. A multidisciplinary team provides care and support, with intensity depending on the older adults' risk profile.

Construct Validity and Reliability of the SARA Gait and Posture Sub-scale in Early Onset Ataxia.

In children, gait and posture assessment provides a crucial marker for the early characterization, surveillance and treatment evaluation of early onset ataxia (EOA). For reliable data entry of studies targeting at gait and posture improvement, uniform quantitative biomarkers are necessary. Until now, the pediatric test construct of gait and posture scores of the Scale for Assessment and Rating of Ataxia sub-scale (SARA) is still unclear.

Stability and relative validity of the Neuromuscular Disease Impact Profile (NMDIP).

Background: The aim of this study was to examine the stability and relative validity (RV) of the Neuromuscular Disease Impact Profile (NMDIP) using criterion-related groups. In a previous study the NMDIP-scales showed good internal consistency, convergent and discriminant validity. Known-groups analysis showed that the NMDIP discriminates between categories of extent of limitations.

Integrated Care for Older Adults Improves Perceived Quality of Care: Results of a Randomized Controlled Trial of Embrace.

Background: All community-living older adults might benefit from integrated care, but evidence is lacking on the effectiveness of such services for perceived quality of care.

Objective: To examine the impact of Embrace, a community-based integrated primary care service, on perceived quality of care.

Design: Stratified randomized controlled trial.

Experiences of Community-Living Older Adults Receiving Integrated Care Based on the Chronic Care Model: A Qualitative Study.

Background: Integrated care models aim to solve the problem of fragmented and poorly coordinated care in current healthcare systems. These models aim to be patient-centered by providing continuous and coordinated care and by considering the needs and preferences of patients. The objective of this study was to evaluate the opinions and experiences of community-living older adults with regard to integrated care and support, along with the extent to which it meets their health and social needs.

Development and psychometric evaluation of a measure to evaluate the quality of integrated care: the Patient Assessment of Integrated Elderly Care.

Background: Novel population-based integrated care services are being developed to adequately serve the growing number of elderly people. Suitable, reliable and valid measurement instruments are needed to evaluate the quality of care delivered.

Objective: To develop a measure to evaluate the quality of integrated care from the perspective of elderly people, the Patient Assessment of Integrated Elderly Care (PAIEC), and then to assess its psychometric properties.

The Geriatric ICF Core Set reflecting health-related problems in community-living older adults aged 75 years and older without dementia: development and validation.

Purpose: The aim of the present study was to develop a valid Geriatric ICF Core Set reflecting relevant health-related problems of community-living older adults without dementia.

Methods: A Delphi study was performed in order to reach consensus (≥70% agreement) on second-level categories from the International Classification of Functioning, Disability and Health (ICF). The Delphi panel comprised 41 older adults, medical and non-medical experts.

Long-term consequences of the posterior reversible encephalopathy syndrome in eclampsia and preeclampsia: a review of the obstetric and nonobstetric literature.

This review summarizes the long-term consequences of the posterior reversible encephalopathy syndrome (PRES) that have been described in the obstetric literature (eclampsia and preeclampsia) and compares these with data from the nonobstetric literature. Preeclampsia is characterized by new-onset hypertension and proteinuria after the 20th week of pregnancy. Neurological symptoms include headache; visual deficits; confusion; seizures; and, in the most severe cases, intracranial hemorrhage.

Autosomal recessive cerebellar ataxia type 3 due to ANO10 mutations: delineation and genotype-phenotype correlation study.

Importance: ANO10 mutations have been reported to cause a novel form of autosomal recessive cerebellar ataxia (ARCA). Our objective was to report 9 ataxic patients carrying 8 novel ANO10 mutations to improve the delineation of this form of ARCA and provide genotype-phenotype correlation.

Observations: The ANO10 gene has been sequenced in 186 consecutive patients with ARCA.

Striatal metabolism and psychomotor speed as predictors of motor onset in Huntington's disease.

The clinical diagnosis of Huntington's disease (HD) is based on the motor symptoms, although these can be preceded by cognitive and behavioral changes. Biomarker studies have shown that structural imaging modalities are useful biomarkers of HD onset, while functional imaging measures have been studied less often for this purpose. Our aim was to investigate the combined value of 18-fluorodesoxyglucose (FDG)-PET and cognitive measures as biomarkers of HD onset.

Pure adult-onset spastic paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene.

SPG8 is a rare autosomal dominant hereditary spastic paraplegia (AD-HSP), with only six SPG8 families described so far. Our purpose was to screen for KIAA0196 (SPG8) mutations in AD-HSP patients and to investigate their phenotype. Extensive family investigation was performed after positive KIAA0196 mutation analysis, which was part of an on-going mutation screening effort in AD-HSP patients.

Rapidly deteriorating course in Dutch hereditary spastic paraplegia type 11 patients.

Although SPG11 is the most common complicated hereditary spastic paraplegia, our knowledge of the long-term prognosis and life expectancy is limited. We therefore studied the disease course of all patients with a proven SPG11 mutation as tested in our laboratory, the single Dutch laboratory providing SPG11 mutation analysis, between 1 January 2009 and 1 January 2011. We identified nine different SPG11 mutations, four of which are novel, in nine index patients.

Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia.

We report on four families affected by a clinical presentation of complex hereditary spastic paraplegia (HSP) due to recessive mutations in DDHD2, encoding one of the three mammalian intracellular phospholipases A(1) (iPLA(1)). The core phenotype of this HSP syndrome consists of very early-onset (<2 years) spastic paraplegia, intellectual disability, and a specific pattern of brain abnormalities on cerebral imaging. An essential role for DDHD2 in the human CNS, and perhaps more specifically in synaptic functioning, is supported by a reduced number of active zones at synaptic terminals in Ddhd-knockdown Drosophila models.

Reviewing the genetic causes of spastic-ataxias.

Although the combined presence of ataxia and pyramidal features has a long differential, the presence of a true spastic-ataxia as the predominant clinical syndrome has a rather limited differential diagnosis. Autosomal recessive ataxia of Charlevoix-Saguenay, late-onset Friedreich ataxia, and hereditary spastic paraplegia type 7 are examples of genetic diseases with such a prominent spastic-ataxic syndrome as the clinical hallmark. We review the various causes of spastic-ataxic syndromes with a focus on the genetic disorders, and provide a clinical framework, based on age at onset, mode of inheritance, and additional clinical features and neuroimaging signs, that could serve the diagnostic workup.

Childhood white matter disorders: quantitative MR imaging and spectroscopy.

Purpose: To prospectively investigate whether quantitative magnetic resonance (MR) parameters, including magnetization transfer ratio (MTR), apparent diffusion coefficient (ADC), fractional anisotropy (FA), and MR spectroscopic metabolite concentrations, allow for discrimination between different types of pathologic conditions that underlie signal intensity abnormalities in white matter.

Materials And Methods: Institutional review board approval and informed consent were obtained. Forty-one patients (19 male, 22 female; mean age, 15.

Interaction between the human hippocampus and the caudate nucleus during route recognition.

Navigation through familiar environments can rely upon distinct neural representations that are related to different memory systems with either the hippocampus or the caudate nucleus at their core. However, it is a fundamental question whether and how these systems interact during route recognition. To address this issue, we combined a functional neuroimaging approach with a naturally occurring, well-controlled human model of caudate nucleus dysfunction (i.