Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy.

Facioscapulohumeral dystrophy (FSHD) has a unique genetic aetiology resulting in partial chromatin relaxation of the D4Z4 macrosatellite repeat array on 4qter. This D4Z4 chromatin relaxation facilitates inappropriate expression of the transcription factor DUX4 in skeletal muscle. DUX4 is encoded by a retrogene that is embedded within the distal region of the D4Z4 repeat array.

Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with .

Objective: We took advantage of a large multinational recruitment to delineate genotype-phenotype correlations in a large, trans-European multicenter cohort of patients with spastic paraplegia gene 7 ().

Methods: We analyzed clinical and genetic data from 241 patients with , integrating neurologic follow-up data. One case was examined neuropathologically.

Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1.

Tubulinopathies are a heterogeneous group of conditions with a wide spectrum of clinical severity resulting from variants in genes of the tubulin superfamily. Variants in TUBG1 have been described in three patients with posterior predominant pachygyria and microcephaly. We here report eight additional patients with four novel heterozygous variants in TUBG1 identified by next-generation sequencing (NGS) analysis.

A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy.

Hypomyelinating leukodystrophies are a heterogeneous group of disorders with a clinical presentation that often includes early-onset nystagmus, ataxia and spasticity and a wide range of severity. Using next-generation sequencing techniques and GeneMatcher, we identified four unrelated patients with brain hypomyelination, all with the same recurrent dominant mutation, c.754G>A p.

Partisan strength, political trust and generalized trust in the United States: An analysis of the General Social Survey, 1972-2014.

The literature on political parties suggests that strong partisan identities are associated with citizens' effective interaction with the political system, and with higher levels of political trust. Traditionally, party identity therefore is seen as a mechanism that allows for political integration. Simultaneously, however, political parties have gained recent attention for their role in promoting societal polarization by reinforcing competing and even antagonistic group identities.

Extending trust to immigrants: Generalized trust, cross-group friendship and anti-immigrant sentiments in 21 European societies.

The aim of this study is twofold. First, we expand on the literature by testing whether generalized trust is negatively related to anti-immigrant sentiments in Europe. Second, we examine to what extent the relation between generalized trust and anti-immigrant sentiments is dependent upon cross-group friendships.

Autosomal recessive cerebellar ataxia of adult onset due to STUB1 mutations.

Autosomal recessive ataxias affect about 1 person in 20,000. Friedreich ataxia accounts for one-third of the cases in Caucasians; the others are due to a growing list of very rare molecular defects, including mild forms of metabolic diseases. In nearly 50%, the genetic cause remains undetermined.

Variant ataxia telangiectasia: clinical and molecular findings and evaluation of radiosensitive phenotypes in a patient and relatives.

Variant ataxia telangiectasia (A-T) may be an underdiagnosed entity. We correlate data from radiosensitivity and kinase assays with clinical and molecular data from a patient with variant A-T and relatives. The coding region of ATM was sequenced.

Homophobia and the transition to adulthood: a three year panel study among Belgian late adolescents and young adults, 2008-2011.

Studies on homophobia among adolescents routinely depart from the assumption that this attitude will be continued into adulthood. However, little research has been conducted on how the transition toward adulthood actually affects homophobia. While earlier studies relied on cross-sectional observations, the present analysis makes use of the Belgian Political Panel Survey (2008-2011), tracking 2,815 respondents (52 % female, 48 % male) between the ages of 18 and 21.

Methylation defect in imprinted genes detected in patients with an Albright's hereditary osteodystrophy like phenotype and platelet Gs hypofunction.

Background: Pseudohypoparathyroidism (PHP) indicates a group of heterogeneous disorders whose common feature is represented by impaired signaling of hormones that activate Gsalpha, encoded by the imprinted GNAS gene. PHP-Ib patients have isolated Parathormone (PTH) resistance and GNAS epigenetic defects while PHP-Ia cases present with hormone resistance and characteristic features jointly termed as Albright's Hereditary Osteodystrophy (AHO) due to maternally inherited GNAS mutations or similar epigenetic defects as found for PHP-Ib. Pseudopseudohypoparathyroidism (PPHP) patients with an AHO phenotype and no hormone resistance and progressive osseous heteroplasia (POH) cases have inactivating paternally inherited GNAS mutations.

Characteristics of early MRI in children and adolescents with vanishing white matter.

Objective: MRI in vanishing white matter typically shows diffuse abnormality of the cerebral white matter, which becomes increasingly rarefied and cystic. We investigated the MRI characteristics preceding this stage.

Design: In a retrospective observational study, we evaluated all available MRIs in our database of DNA-confirmed VWM patients and selected MRIs without diffuse cerebral white matter abnormalities and without signs of rarefaction or cystic degeneration in patients below 20 years of age.

X-linked sideroblastic anemia and ataxia: a new family with identification of a fourth ABCB7 gene mutation.

X-linked sideroblastic anemia and ataxia (XLSA-A) is a rare cause of early onset ataxia, which may be overlooked due to the usually mild asymptomatic anemia. The genetic defect has been identified as a mutation in the ABCB7 gene at Xq12-q13. The gene encodes a mitochondrial ATP-binding cassette (ABC) transporter protein involved in iron homeostasis.

Is sexual well-being part of subjective well-being? An empirical analysis of Belgian (Flemish) survey data using an extended well-being scale.

Most conventionally used subjective well-being scales do not include any measurement of sexual well-being, despite the fact that most available research and theories indicate that sexuality is to be considered an important and integral part of human well-being. This article proposes a five-item subjective well-being scale that includes sexual well-being. A representative pilot survey in Belgium (n = 2,080) indicated that item non-response on the sexual item was limited.

The impact of gendered friendship patterns on the prevalence of homophobia among belgian late adolescents.

In order to assess the determinants of homophobia among Belgian adolescents, a shortened version of the Homophobia scale (Wright et al., 1999) was included in a representative survey among Belgian adolescents (n = 4,870). Principal component analysis demonstrated that the scale was one-dimensional and internally coherent.

Anti-gay sentiment among adolescents in Belgium and Canada: a comparative investigation into the role of gender and religion.

Previous research has indicated that opposition toward lesbian, gay, bisexual, and trangender (LGBT) rights remains prevalent among Western populations. In this article, we investigate the determinants of anti-gay attitudes among adolescents in two liberal democracies, Belgium (n = 6,330) and Canada (n = 3,334). The analysis indicates that hostile feelings toward LGBT rights are particularly widespread among boys, while the effects of socioeconomic status and parental education remain limited.

Treatment and long term outcome in West syndrome: the clinical reality. A multicentre follow up study.

We systematically reviewed the files of 51 infants presenting with infantile spasms and hypsarrhythmia in order to study the initial treatment strategies and the long term outcome. 80% of the infants were classified as symptomatic. In the nine participating centres, different treatment protocols were used, but the large majority of the children received vigabatrin as first line treatment.

Brief report: Citizenship concepts among adolescents. Evidence from a survey among Belgian 16-year olds.

In this research note we investigate the occurrence of citizenship concepts among adolescents in Belgium. The analysis is based on the Belgian Youth Survey (2006), which is a representative survey among 6330 16-year olds in the country. Citizenship concepts were shown to be multi-dimensional, with distinct factors for conventional or electoral participation and civic engagement.

CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders.

Joubert syndrome-related disorders (JSRDs) are a group of clinically and genetically heterogeneous conditions that share a midbrain-hindbrain malformation, the molar tooth sign (MTS) visible on brain imaging, with variable neurological, ocular, and renal manifestations. Mutations in the CEP290 gene were recently identified in families with the MTS-related neurological features, many of which showed oculo-renal involvement typical of Senior-Loken syndrome (JSRD-SLS phenotype). Here, we performed comprehensive CEP290-mutation analysis on two nonoverlapping cohorts of JSRD-affected patients with a proven MTS.

Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy.

Charcot-Marie-Tooth (CMT) neuropathies are common disorders of the peripheral nervous system caused by demyelination or axonal degeneration, or a combination of both features. We previously assigned the locus for autosomal dominant intermediate CMT neuropathy type C (DI-CMTC) to chromosome 1p34-p35. Here we identify two heterozygous missense mutations (G41R and E196K) and one de novo deletion (153-156delVKQV) in tyrosyl-tRNA synthetase (YARS) in three unrelated families affected with DI-CMTC.

Steroids in intractable childhood epilepsy: clinical experience and review of the literature.

Steroids and adrenocorticotrophic hormone (ACTH) have been used for the treatment of infantile spasms for several years. However, the use of steroids in the treatment of epilepsy beyond infantile spasms has been limited to only a few studies. We report the experience with steroids in 32 children with intractable epilepsy, not including West syndrome.

Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease.

Alexander disease is a progressive, usually fatal neurological disorder defined by the widespread and abundant presence in astrocytes of protein aggregates called Rosenthal fibers. The disease most often occurs in infants younger than 2 years and has been labeled a leukodystrophy because of an accompanying severe myelin deficit in the frontal lobes. Later onset forms have also been recognized based on the presence of abundant Rosenthal fibers.