Primary progressive aphasia: defining genetic and pathological subtypes.

The primary progressive aphasias (PPA) are a group of clinically, genetically and pathologically heterogeneous neurodegenerative disorders caused by FTLD-tau, FTLD-TDP or Alzheimer's disease pathology. Clinically, three subtypes are recognized, the semantic, logopenic and nonfluent variants but there remains ongoing discussions over how the clinical subtypes should be dissected. This review looks at the genetic and pathological basis of PPA and argues that with the advent of clinical trials in PPA, establishing the underlying pathology accurately during life will become increasingly important.

Immigration, income, drinking and obesity in African American adults.

The objective of this study was to investigate the relationship between immigration status, income, drinking and overweight and obesity in African American adults residing in the United States using an internet web based survey. Data on 303 adult African American immigrants and non-immigrants was collected using a self-administered web based survey. Respondents were recruited using a snowball sampling technique to obtain a convenience sample.

Structural neuroanatomy of face processing in frontotemporal lobar degeneration.

Impairments of face processing occur frequently in frontotemporal lobar degeneration (FTLD) but the neuroanatomical basis for these deficits has seldom been studied systematically. Here a prospective voxel based morphometry study is described addressing the neuroanatomy of two key dimensions of face processing--face identification and facial emotion recognition--in a single cohort of 32 patients with FTLD (19 with frontal variant and 13 with temporal variant FTLD). For the FTLD group as a whole, face identification was positively associated with grey matter in the right anterior fusiform gyrus while recognition of angry expressions was positively associated with grey matter in the bilateral insula cortex.

TDP-43 subtypes are associated with distinct atrophy patterns in frontotemporal dementia.

Background: We sought to describe the antemortem clinical and neuroimaging features among patients with frontotemporal lobar degeneration with TDP-43 immunoreactive inclusions (FTLD-TDP).

Methods: Subjects were recruited from a consecutive series of patients with a primary neuropathologic diagnosis of FTLD-TDP and antemortem MRI. Twenty-eight patients met entry criteria: 9 with type 1, 5 with type 2, and 10 with type 3 FTLD-TDP.

Differential effects of lobe A and lobe B of the Conserved Oligomeric Golgi complex on the stability of {beta}1,4-galactosyltransferase 1 and {alpha}2,6-sialyltransferase 1.

Initially described by Jaeken et al. in 1980, congenital disorders of glycosylation (CDG) is a rapidly expanding group of human multisystemic disorders. To date, many CDG patients have been identified with deficiencies in the conserved oligomeric Golgi (COG) complex which is a complex involved in the vesicular intra-Golgi retrograde trafficking.

Receptive prosody in nonfluent primary progressive aphasias.

Introduction: Prosody has been little studied in the primary progressive aphasias (PPAs), a group of neurodegenerative disorders presenting with progressive language impairment.

Methods: Here we conducted a systematic investigation of different dimensions of prosody processing (acoustic, linguistic and emotional) in a cohort of 19 patients with nonfluent PPA syndromes (11 with progressive nonfluent aphasia, PNFA; five with progressive logopenic/phonological aphasia, LPA; three with progranulin-associated aphasia, GRN-PPA) compared with a group of healthy older controls. Voxel-based morphometry (VBM) was used to identify neuroanatomical associations of prosodic functions.

Clinical, genetic and pathological heterogeneity of frontotemporal dementia: a review.

Frontotemporal dementia (FTD) is the second most common young-onset dementia and is clinically characterised by progressive behavioural change, executive dysfunction and language difficulties. Three clinical syndromes, behavioural variant FTD, semantic dementia and progressive non-fluent aphasia, form part of a clinicopathological spectrum named frontotemporal lobar degeneration (FTLD). The classical neuropsychological phenotype of FTD has been enriched by tests exploring Theory of Mind, social cognition and emotional processing.

Immigration, drinking, and frequent mental distress: an internet survey.

Objective: The objective of this study was to investigate the importance of immigration as a risk factor for self-reported frequent mental distress (FMD) among black respondents to an Internet survey.

Method: Snowball sampling was used to obtain Internet survey responses from immigrant and non-immigrant black adults in the United States. Multiple logistic regression analysis was used to control for the effects of personal characteristics (N = 301).

Improving risk assessment in family medicine through the family history.

The family history is used as a screening tool to identify persons who may be at risk for a heritable disorder. Primary care providers sometimes do not thoroughly gather and document the family history. This pilot study was undertaken to determine whether having a genetic counselor on site at our family medicine clinic 2 days a week for 3 months would improve the quality of the family history field in patient records.

Novel L284R MAPT mutation in a family with an autosomal dominant progressive supranuclear palsy syndrome.

Background: MAPT mutations are associated with disorders within the frontotemporal lobar degeneration spectrum. The usual presenting syndrome is behavioural variant frontotemporal dementia, although some patients present with parkinsonism. In a number of these cases the dominant clinical features have been consistent with a progressive supranuclear palsy (PSP) syndrome.

Correlation between mental health co-morbidity screening scores and clinical response in collaborative care treatment for depression.

The hypothesis for this paper is that adult patients who have higher screening scores for mental health co-morbidities and depression have a greater likelihood of not responding to treatment with collaborative care management (CCM) for their depression within six months.For the 334 patients in this study, the primary endpoints were if the patient was in remission at six months (PHQ-9 score <5) or if they were non-responsive (NR) (PHQ-9 >50% of baseline score). Initial evaluation included screening for alcoholism (AUDIT), anxiety (GAD-7) and bipolar disorders (MDQ).

Syndromes of nonfluent primary progressive aphasia: a clinical and neurolinguistic analysis.

Background: Despite recent work, the nosology of nonfluent primary progressive aphasia (PPA) remains unresolved.

Methods: We describe a clinical and neurolinguistic cross-sectional analysis of a cohort of 24 patients with nonfluent PPA. Patients were initially classified based on analysis of spontaneous speech into 4 groups: apraxia of speech (AOS)/agrammatism (10 patients); AOS/no agrammatism (4 patients); no AOS/agrammatism (3 patients); no AOS/no agrammatism (7 patients).

Self-assessed disability and self-rated health among rural villagers in Peru: a brief report.

Context: Risks for poor self-rated overall health in rural areas of developing nations have not been thoroughly investigated.

Purpose: The objective of this study was to assess potential risk factors for poor self-rated health among rural villagers in Peru.

Methods: A door-to-door survey of villagers residing in the Pampas Grande region in Peru, which is in the Andes Mountains, yielded complete data for 337 adults.

Alzheimer's pathology in primary progressive aphasia.

Primary progressive aphasia (PPA) is a neurodegenerative disorder with language impairment as the primary feature. Different subtypes have been described and the 3 best characterized are progressive nonfluent aphasia (PNFA), semantic dementia (SD) and logopenic/phonological aphasia (LPA). Of these subtypes, LPA is most commonly associated with Alzheimer's disease (AD) pathology.

Cigarette smoke condensate induces nuclear factor kappa-b activity and proangiogenic growth factors in aerodigestive cells.

Objectives/hypothesis: Aerodigestive cancer risk of both lung and head and neck cancers has been linked to the genotoxic effects of tobacco use. These effects include upregulation of nuclear factor kappa-B (NFkappaB) and its downstream products associated with both lung and head and neck cancer malignant progression.

Study Design: Bench Research.

FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration.

Through an international consortium, we have collected 37 tau- and TAR DNA-binding protein 43 (TDP-43)-negative frontotemporal lobar degeneration (FTLD) cases, and present here the first comprehensive analysis of these cases in terms of neuropathology, genetics, demographics and clinical data. 92% (34/37) had fused in sarcoma (FUS) protein pathology, indicating that FTLD-FUS is an important FTLD subtype. This FTLD-FUS collection specifically focussed on aFTLD-U cases, one of three recently defined subtypes of FTLD-FUS.

Perry syndrome due to the DCTN1 G71R mutation: a distinctive levodopa responsive disorder with behavioral syndrome, vertical gaze palsy, and respiratory failure.

Perry syndrome is a rare form of autosomal dominant Parkinsonism with respiratory failure recently defined as being due to mutations in the DCTN1 gene. We describe a new family carrying a G71R mutation in the DCTN1 gene. The proband displayed a series of distinctive features not previously described in Perry syndrome: a disorder of vertical downward saccades accompanied by progressive midbrain atrophy, predominant nonmotor symptoms responsive to levodopa, distinctive craniocervical levodopa induced dyskinesias, and a good response to high-dose levodopa therapy and respiratory support.

Comparing diverse health promotion programs using overall self-rated health as a common metric.

Health promotion programs may target a variety of behaviors including weight loss, exercise, stress, nutrition, or other risk factors. Comparing the outcomes of diverse programs is hampered by the absence of a common metric. Overall self-rated health has been used as a health outcome measure in population studies and in some primary care studies, but its potential use to monitor the outcomes of health programs is unexplored.

Impact of online primary care visits on standard costs: a pilot study.

As medical providers seek new ways to control costs, online visits have begun to receive serious consideration. The purpose of this study was to compare the odds of being a cost outlier during a 6-month period after either an online visit or a standard drop-in visit in a conventional medical office setting. Medical records of primary care patients (both adults and children) seen in a large group practice in Minnesota in 2008 were analyzed for this study.

Phenomenology and anatomy of abnormal behaviours in primary progressive aphasia.

Primary progressive aphasia (PPA) is a group of disorders with progressive language impairment. Abnormal behaviour may develop in PPA as the disease evolves, but the clinical features and brain basis of behavioural change in PPA have not been fully defined. 33 PPA patients (9 semantic dementia, SD, 14 progressive nonfluent aphasia, PNFA, 7 logopenic/phonological aphasia, LPA and 3 patients with a PPA syndrome in association with progranulin mutations, GRN-PPA) were assessed using the Neuropsychiatric Inventory to record behavioural changes, as well as volumetric MR imaging.

Dashboard impact evaluation for primary care and community health programs.

Dashboard impact evaluations are studies that assess the short-term effects of health programs on performance indicators that are of interest to senior managers. Evaluations of this type can be performed rapidly and at relatively low cost if evaluators are experienced and independent, and use standard methods. Assessment of short-term impacts can provide valuable encouragement or raise concerns that call for close monitoring or redirection of program activities.