Clinical traits of LRRK2-associated parkinson's disease in ireland: a link between familial and idiopathic PD

The role of genetics in parkinsonism has been confirmed over the last decade with the identification of genetic variation in seven genes, which are causative in familial forms of the disorder. A number of pathogenic mutations have been identified in the latest gene LRRK2, with a Gly2019Ser amino acid substitution identified in two siblings and one patient with idiopathic Parkinson's disease from Ireland. The clinical features resemble the idiopathic variant with a tremor predominant clinical picture shared by the siblings, slow progression of symptoms, and no observation of cognitive disturbance in all. The family and the sporadic individual were apparently not related and originated from different regions of Ireland, although haplotype analysis does suggest they share a common founder. The influence of the G2019S substitution on protein function and disease phenotype has yet to be fully resolved, but its elucidation will undoubtedly further our understanding of the mechanisms underlying Parkinson's disease.

''Setting 'Em Up'': Personal, Familial and Institutional Grooming in the Sexual Abuse of Children

The term ‘grooming’ has been used to describe the offender’s actions during the preparatory stage of sexual abuse. This paper will argue that current discourses on grooming have created ambiguities and misunderstandings about child sexual abuse. In particular, the popular focus on ‘stranger danger’ belies the fact that the majority of children are abused by someone well known to them, where grooming can also occur. Current discourses also neglect other important facets of the sex offending pattern. They fail to consider that offenders may groom not only the child but also their family and even the local community who may act as the gatekeepers of access. They also ignore what can be termed ‘institutional grooming’ – that sex offenders may groom criminal justice and other institutions into believing that they present no risk to children. A key variable in the grooming process is the creation and subsequent abuse of trust. Given that the criminal law may be somewhat limited in its response to this type of behaviour, ultimately concerted efforts must be made to foster social and organisational awareness of such processes in order to reduce the offender’s opportunity for abuse.

Familial idiopathic methemoglobinemia revisited: original cases reveal 2 novel mutations in NADH cytochrome b5 reductase

In 1943, the first description of familial idiopathic methemoglobinemia in the United Kingdom was reported in 2 members of one family. Five years later, Quentin Gibson (then of Queen's University, Belfast, Ireland) correctly identified the pathway involved in the reduction of methemoglobin in the family, thereby describing the first hereditary trait involving a specific enzyme deficiency. Recessive congenital methemoglobinemia (RCM) is caused by a deficiency of reduced nicotinamide adenine dinucleotide (NADH)-cytochrome b5 reductase. One of the original propositi with the type 1 disorder has now been traced. He was found to be a compound heterozygote harboring 2 previously undescribed mutations in exon 9, a point mutation Gly873Ala predicting a Gly291Asp substitution, and a 3-bp in-frame deletion of codon 255 (GAG), predicting loss of glutamic acid. A brother and a surviving sister are heterozygous; each bears one of the mutations. Thirty-three different mutations have now been recorded for RCM. The original authors' optimism that RCM would provide material for future genetic studies has been amply justified.