Thirteen families have been described with an autosomal dominantly inherited
dementia named frontotemporal dementia and parkinsonism linked to chromosome
17 (FTDP-17), historically termed Pick's
...disease. Most FTDP-17 cases show neuronal and/or glial inclusions
that stain positively with antibodies raised against the microtubule-associated
protein Tau, although the Tau pathology varies considerably in both its quantity
(or severity) and characteristics,. Previous studies have mapped the FTDP-17 locus to a 2-centimorgan
region on chromosome 17q21.11; the tau gene also lies within this region.
We have now sequenced tau in FTDP-17 families and identified three
missense mutations (G272V, P301L and R406W) and three mutations in the 5′
splice site of exon 10. The splice-site mutations all destabilize a potential
stem-loop structure which is probably involved in regulating the alternative
splicing of exon10 (ref. 13). This causes more
frequent usage of the 5′ splice site and an increased proportion of
tau transcripts that include exon 10. The increase in exon 10+
messenger RNA will increase the proportion of Tau containing four
microtubule-binding repeats, which is consistent with the neuropathology described
in several families with FTDP-17 (refs 12, 14).
Celotno besedilo
Dostopno za:
DOBA, IJS, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
Most people with a spinal cord injury rate neuropathic pain as one of the most difficult problems to manage and there are no medical treatments that provide satisfactory pain relief in most people. ...Furthermore, psychosocial factors have been considered in the maintenance and aggravation of neuropathic spinal cord injury pain. Psychological interventions to support people with spinal cord injury to deal with neuropathic pain, however, are sparse. The primary aim of the CONECSI (COping with NEuropathiC Spinal cord Injury pain) trial is to evaluate the effects of a multidisciplinary cognitive behavioural treatment programme on pain intensity and pain-related disability, and secondary on mood, participation in activities, and life satisfaction.
CONECSI is a multicentre randomised controlled trial. A sample of 60 persons with chronic neuropathic spinal cord injury pain will be recruited from four rehabilitation centres and randomised to an intervention group or a waiting list control group. The control group will be invited for the programme six months after the intervention group. Main inclusion criteria are: having chronic (> 6 months) neuropathic spinal cord injury pain as the worst pain complaint and rating the pain intensity in the last week as 40 or more on a 0-100 scale. The intervention consists of educational, cognitive, and behavioural elements and encompasses 11 sessions over a 3-month period. Each meeting will be supervised by a local psychologist and physical therapist. Measurements will be performed before starting the programme/entering the control group, and at 3, 6, 9, and 12 months. Primary outcomes are pain intensity and pain-related disability (Chronic Pain Grade questionnaire). Secondary outcomes are mood (Hospital Anxiety and Depression Scale), participation in activities (Utrecht Activities List), and life satisfaction (Life Satisfaction Questionnaire). Pain coping and pain cognitions will be assessed with three questionnaires (Coping Strategy Questionnaire, Pain Coping Inventory, and Pain Cognition List).
The CONECSI trial will reveal the effects of a multidisciplinary cognitive behavioural programme for people with chronic neuropathic spinal cord injury pain. This intervention is expected to contribute to the rehabilitation treatment possibilities for this population.
Dutch Trial Register NTR1580.
Celotno besedilo
Dostopno za:
DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
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