Neurological disorders in Northern Tanzania: A 6-year prospective hospital-based case series.

Background: The burden of neurological disorders is large and altered by the HIV epidemic.

Objectives: We describe the pattern of neurological disorders and their association with HIV infection in adult patients attending a consultant hospital in Northern Tanzania.

Methods: In this prospective cross-sectional study, we collected data on adult neurological referrals over a 6-year period between 2007-13.

Clinical presentation of epilepsy in six villages in an onchocerciasis endemic area in Mahenge, Tanzania.

To describe the clinical manifestations of epilepsy and access to antiseizure treatment in Mahenge in Central Tanzania, an onchocerciasis endemic area with a high prevalence of epilepsy. A door-to-door epilepsy prevalence survey was conducted in four rural and two sub-urban villages. Trained community workers used five screening questions to identify persons suspected to have epilepsy.

Juvenile dermatomyositis in a 4-year-old Kenyan girl.

To our knowledge, this is the first case report of juvenile dermatomyositis (JDM) in Tanzania. It demonstrates that the characteristic cutaneous findings of JDM may easily be overlooked, especially on dark skin, and the difficulty of clinical management in resource-constrained settings.

Secondary Myelitis in Dermal Sinus Causing Paraplegia in a Child with Previously Normal Neurological Function.

Neural tube defects result from failure of neural tube fusion during early embryogenesis, the fourth week after conception. The spectrum of severity is not uniform across the various forms of this congenital anomaly as certain presentations are not compatible with extrauterine life (anencephaly) while, on the other hand, other defects may remain undiagnosed as they are entirely asymptomatic (occult spina bifida). We report a child with previously normal neurological development, a devastating clinical course following superinfection of a subtle spina bifida defect which resulted in a flaccid paralysis below the level of the lesion and permanent neurological deficits following resolution of the acute infection and a back closure surgery.

The CIRCORT database: Reference ranges and seasonal changes in diurnal salivary cortisol derived from a meta-dataset comprised of 15 field studies.

Diurnal salivary cortisol profiles are valuable indicators of adrenocortical functioning in epidemiological research and clinical practice. However, normative reference values derived from a large number of participants and across a wide age range are still missing. To fill this gap, data were compiled from 15 independently conducted field studies with a total of 104,623 salivary cortisol samples obtained from 18,698 unselected individuals (mean age: 48.

Loss of nuclear activity of the FBXO7 protein in patients with parkinsonian-pyramidal syndrome (PARK15).

Mutations in the F-box only protein 7 gene (FBXO7) cause PARK15, an autosomal recessive neurodegenerative disease presenting with severe levodopa-responsive parkinsonism and pyramidal disturbances. Understanding the PARK15 pathogenesis might thus provide clues on the mechanisms of maintenance of brain dopaminergic neurons, the same which are lost in Parkinson's disease. The protein(s) encoded by FBXO7 remain very poorly characterized.

Pallidopyramidal disease: a misnomer?

The combination of recessive early-onset parkinsonism and pyramidal tract signs caused by pallidopyramidal degeneration is known as pallidopyramidal disease or syndrome (PPD/S). We investigated whether patients diagnosed as Davison's PPD/S showed any definite proof of pyramidal and pallidal involvement, without findings suggestive of other nosological entities. Since Davison's original description, 15 other PPD/S cases have been reported, yet all lack proof of pyramidal or pallidal degeneration.

Suggestive linkage of ADHD to chromosome 18q22 in a young genetically isolated Dutch population.

Attention deficit/hyperactivity disorder (ADHD) is a common, highly heritable, neuropsychiatric disorder among children. Linkage studies in isolated populations have proved powerful to detect variants for complex diseases, such as ADHD. We performed a genome-wide linkage scan for ADHD in nine patients from a genetically isolated population in the Netherlands, who were linked to each other within 10 generations through multiple lines of descent.

Evidence for novel loci for late-onset Parkinson's disease in a genetic isolate from the Netherlands.

We studied patients with idiopathic Parkinson's disease (PD) from an isolated population in the Netherlands aiming to map gene(s) involved in PD susceptibility. A total of 109 parkinsonism patients were independently ascertained, of whom 62 presented late-onset, idiopathic PD. Genealogical research showed that 45 index cases with idiopathic PD were linked to a common ancestor, indicating familiar clustering among the patients.

Phenotypic subtypes in attention deficit hyperactivity disorder in an isolated population.

We address the use of two informants in genetic studies and whether familial aggregation is similar for the three phenotypic subtypes of ADHD. Lifetime ADHD was diagnosed in a Dutch isolated population using parents and teachers as informants, creating two subgroups (one or two informants), then further divided into three phenotypic categories (inattentive, hyperactive/impulsive, combined). Genealogy was collected for all patients.

A deletion in DJ-1 and the risk of dementia--a population-based survey.

The DJ-1 gene is associated with autosomal recessive early-onset Parkinsonism, most likely through its role in defense against oxidative stress. Oxidative stress is not only involved in Parkinson's disease, but also in other neurodegenerative disorders, such as dementia. We assessed the presence of a 14 kb DJ-1 deletion in 191 patients with dementia, ascertained from the genetically isolated population where the first kindred with DJ-1 related Parkinsonism was originally identified.

Attention-deficit/hyperactivity disorder (ADHD): parents' judgment about school, teachers' judgment about home.

Objective: The aim of this study was to separate sources of observer and situational variance in reporting attention-deficit/hyperactivity disorder (ADHD) symptomatology.

Method: In a sample of 30 children diagnosed with ADHD, ADHD symptomatology was assessed with the Diagnostic Interview Schedule for Children-Parent Version (DISC-P), with parents and teachers as informants. Both parents and teachers reported about the child's ADHD symptomatology at home as well as at school.

Brachydactyly and short stature in a kindred with early-onset parkinsonism.

In a Dutch kindred we have identified a deletion of the DJ-1 gene, leading to autosomal-recessive parkinsonism. The parkinsonism patients also had short stature and brachydactyly. In the family and a control group from the same community, we used the DJ-1 deletion as a marker for the originally linked PARK7 region and found a significant association with body height (P = 0.

Prospects of genetic epidemiology in the 21st century.

Genetic epidemiology is a young but rapidly developing discipline. Although its early years were largely dedicated to family-based research in monogenic disorders, now genetic-epidemiologic research increasingly focuses on complex, multifactorial disorders. Along with the development of the human-genome map and advances in molecular technology grows the importance of genetic-epidemiologic applications.

Mutations in the hemochromatosis gene (HFE), Parkinson's disease and parkinsonism.

Iron overload increases oxidative stress and may lead to neurodegenerative disease like Parkinson's disease (PD). We studied the role of mutations in the hemochromatosis gene HFE in PD and other parkinsonism (non-PD PS) in two population-based series. The first series consisted of 137 patients with PD and 47 with non-PD PS, and the second of 60 patients with PD and 25 with non-PD PS.

Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism.

The DJ-1 gene encodes a ubiquitous, highly conserved protein. Here, we show that DJ-1 mutations are associated with PARK7, a monogenic form of human parkinsonism. The function of the DJ-1 protein remains unknown, but evidence suggests its involvement in the oxidative stress response.