The history of Jervell and Lange-Nielsen syndrome.

Background: First-time documentation of rare diseases is normally in the form of case reports. These are typically based on unexpected observations by vigilant clinicians and lead to further research on prevalence and aetiology. One of the best-known Norwegian examples is Jervell and Lange-Nielsen syndrome.

[Presymptomatic genetic testing in minors should only be performed when intervention is possible].

Presymptomatic genetic testing in minors is subject to debate. We reviewed guidelines on the subject from four large medical genetics societies. A general consensus exists regarding presymptomatic testing with the main justification for such testing being the direct benefit to the child through medical intervention or preventive measures.

[The genome in terms of audiology and ophthalmology].

The article briefly reviews the impact of genetics and genomics in audiology and ophthalmology, respectively. The discovery of an increasing number of genes associated with hearing and visual impairment creates a foundation for a better understanding of pathophysiology, eventually leading to novel and more individualized treatments. Furthermore, genetic evaluation and counselling can contribute to molecular diagnosis, better prognostication, and mode of inheritance.

[From intellectual disability to new treatment modalities of fragile X syndrome].

In 1943 a large family with X-linked mental retardation was described by Martin & Bell. This family had what we know today as fragile X syndrome, the most common inherited form of intellectual disability. Current knowledge about the specific gene, the encoded protein and the pathophysiological mechanisms involved has made it possible to develop pharmacological treatment trials.

[Potential problems in obtaining insurance concern patients referred for genetic counseling].

In Denmark insurance companies may request information regarding current and past disease of the applicants and their family when insurance is requested but they are prohibited from requesting information regarding the applicants' genetically determined risk of future disease. We report a web-based survey in which 46 health-care providers reported how often they met concerns regarding insurance. Concerns were expressed in 1:17 contacts and led to discontinuation of the work-up in 1:200.

[Carriers of fragile X syndrome can present with a broad spectrum of clinical disorders].

Fragile X syndrome, fragile X-associated tremor/ataxia syndrome (FXTAS) and fragile X-associated primary ovarian insufficiency (FXPOI) are three clinically distinct disorders caused by expansions of a CGG repeat sequence in the non-coding part of the FMR1. FXTAS and FXPOI are seen in carriers of smaller repeat expansions (55-200). Carriers were for many years thought to be clinically unaffected, but along with the discovery of FXPOI and FXTAS a growing number of additional clinical manifestations have been identified.

[New treatments of hereditary blindness].

Ongoing clinical trials are targeting several previously intractable hereditary causes of blindness of congenital, childhood or early adulthood onset, mainly in the optic nerve and retina. The intended stage of initiation of the new therapeutic approaches ranges from neonatal life and a structurally intact retinal tissue to adult life with a complete loss of photoreceptors. It must be assumed that some of the trials will succeed in producing new therapies and action must be taken to refine and accelerate diagnostics and to preserve therapeutic potential in blind people.

[Genetic testing and counselling in inherited eye disease].

Advances in genetics have made genetic testing in patients with inherited eye disease increasingly accessible, and the initiation of clinical intervention trials makes it increasingly clinically relevant. Based on a multidisciplinary collaboration between ophthalmologists and clinical geneticists, the extensive register of families with monogenic inherited eye diseases at the National Eye Clinic of the Kennedy Center in Denmark provides a valuable asset waiting to be exploited in the global effort to reduce blindness caused by genetic defects.

[The genetic background for the eye malformations anophthalmia and microphthalmia].

Anophthalmia and microphthalmia (AO/MO) are rare congenital eye malformations, in which the eyeball is apparently absent or smaller than normal, which causes various degrees of visual impairment. Over 200 different AO/MO-related syndromes have been described, but the genetic background is unknown in many cases. The aim of this article is to give an overview of AO/MO, focusing on the genetic background.

[New knowledge of spasticity and its treatment].

Spasticity is a frequently used diagnosis, and anti-spastic medication is used widespread. In this systematic review article we highlight difficulties in diagnosing spasticity correctly and thus limit the value of the diagnosis in ensuring the best possible treatment. We review recent neuroscience research and conclude that it is necessary to develop better tools for clinical diagnosis of spasticity in order to avoid potential malpractice and to limit treatment with anti-spastic drugs for patients with documented increased reflex-mediated muscle tone as their main annoyance.

[The genetics of Gilles de la Tourette syndrome].

Knowledge about the aetiology of Gilles de la Tourette syndrome (GTS) is very limited. GTS has a complex mode of inheritance in which both genetic and environmental factors are believed to be involved in disease development. Different approaches to identify GTS associated genes have led to the discovery of several candidate genes.

[Increased nuchal translucency in osteogenesis imperfecta].

A limited number of reports published since 2001 have described an association between increased nuchal translucency (NT) and osteogenesis imperfecta (OI). We report a new case which underlines the frequency of this association as well as the importance of follow-up and genetic evaluation. In the present case, ultrasound scanning at 13 weeks of gestation showed a NT of 3.

[Prenatal diagnosis of chromosome aberrations after implementation of screening for Down's syndrome].

Introduction: First trimester screening for Down's syndrome was evaluated by the National Board of Health in 2004, and recommended to all pregnant women in the form of an informed choice. We have reviewed prenatal and postnatal chromosome aberrations in 3 counties in Denmark during the years of implementation in 2004, 2005 and 2006.

Materials And Methods: Risk evaluation based on combined screening (fetal nuchal translucency measurement and serum screening of the pregnant woman) was introduced in the counties of Copenhagen, Roskilde and Storstrom, covering approximately 1.