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Primary objective: To assess the incidence of fatigue for persons following a mild traumatic brain injury (MTBI) and to evaluate the relationship between fatigue and APOE genotype. As fatigue is often found to be influenced by anxiety, depression and sleep disturbance, these factors were also measured. Methods and procedures: Thirty-one persons who sustained a MTBI were drawn from a population-based longitudinal study. Each person who sustained a MTBI was matched by age, gender, education and APOE genotype with two non-head injury controls. Self-reported pre- and post-injury incidence of fatigue, anxiety, depression and sleep disturbance was compared within-group and between groups. Results: For the MTBI group, incidence of fatigue was almost twice as common post- than pre-injury, whereas there was no corresponding change in a non-injured control group. Within the MTBI-group, post-injury fatigue was particularly common for carriers of the APOE ε4 allele. Conclusions: Fatigue is common sequela after a MTBI and especially pronounced for carriers of the APOE ε4 allele. [ABSTRACT FROM AUTHOR]

The article reports on the e4 allele of apolipoprotein E (APOE) and head injury and its relation to dementia. The e4 allele of apolipoprotein E (APOE) and head injury risks are considered risks factors for dementia diseases. A study was conducted to examine the relation of mild head injury, APOE and dementia. The study used 543 subjects whose ages are 40 to 85 years old. The results show that people with head injury but do not have APOE e4 have no increased risk of dementia.

We have previously mapped the gene for autosomal dominant cerebellar ataxia type II (ADCAII) to chromosome 3p12-p21.1 in a region of 33 cM by using four families of different geographic origin. In this study, we analysed the families with nine additional simple tandem repeat markers located in the ADCAII candidate region. An extensive clinical evaluation was also performed in the Belgian family CA-1 on two probably affected and seven at-risk individuals by means of ophthalmological examination and magnetic resonance imaging. Based on informative recombinants, we were able to reduce the ADCAII candidate region to the 12-cM region between D3S1300 and D3S1285. Furthermore, haplotype analysis among the families suggested that the most likely location of the ADCAII gene is within the 6.2-cM interval between D3S3698 and D3S1285. Because of the documented anticipation in ADCAII families, we also analysed family CA-1 with six polymorphic triplet repeat markers located on chromosome 3. None of these markers showed expanded alleles. [ABSTRACT FROM AUTHOR]

Analyzes whether genes involved in the dopaminergic and serotonergic systems can influence temperament dimensions. Dopamine transporter genes; Dimensions of novelty seeking and harm avoidance; Genetic polymorphism.

In a Slovene Gypsy family of 19 subjects from four generations three patients with clinical characteristics compatible with hereditary motor and sensory neuropathy -Lom (HMSNL), were found. They had severe distal and milder proximal muscle atrophy and weakness with areflexia of myotatic jerks. Two had facial weakness at the time when already wheelchair bound. All sensory modalities were affected distally in the limbs. Sluggish pupillary responses to light and convergence were found. They had skeletal abnormalities. One patient had polydactily on the hand. Nerve conduction studies were compatible with demyelinative polyneuropathy. Nerve biopsy showed mainly axonal loss without hypertrophic changes. Auditory neuropathy was diagnosed in all of them. None of the patients had duplication of 17pl.2-12 or point mutations in the Protein zero, Peripheral myelin protein and Connexin32 genes. Similar disorder that mapped to 8q24 was previously described in some Bulgarian and Italian Gypsy families. Members of our family may suffer from the same hereditary disease and may carry the same ancestor mutation, which was in the past spread in European Gypsy populations. [ABSTRACT FROM AUTHOR]

In this article the author highlights the changes introduced to the European Journal of Human Genetics (EJHG). With this issue, EJHG has entered its 12th year. The last year has seen major changes, leading to a strongly increased international visibility. First, EJHG has now been firmly rooted in the stable of Nature Publishing Group publications. Secondly, the manuscript processing has undergone two significant changes as well. Early in 2003, EJHG moved to full electronic submission. Finally, in September the journal initiated Advance Online Publication. This means that the finally accepted manuscripts are now available online, and thus for referencing, four to five weeks after final acceptance.