Jutta Gärtner: Tracking down dementia in children
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- The medical professor Jutta Gärtner heads the children's clinic at the University Medical Centre Göttingen. Source: Universität Göttingen
07.10.2010 -
Dementia can hit people not only in the autumn of their lives. Some neurodegenerative diseases that attack white or grey matter can even attack in childhood or adolescence. Jutta Gärtner is a specialist in paediatric neurology at the University Hospital Göttingen, and is occupied with the question of what triggers the disease in young people. Because of their doggedness, dementia diseases in children and adolescents have now been made a priority area for the largest research organisation for dementia, the German Centre for Neurodegenerative Diseases (DZNE).
Gärtner sees herself as both a doctor and researcher, but strictly in that order. “ I always wanted to be a paediatrician, the fascination for science first came during a research stay in the US,” she explains. After studying medicine and completing her thesis, she went to the John Hopkins University Hospital in Baltimore. She initially planned to stay only a year, but became so fascinated by the work being undertaken in the local laboratory that she only returned to Germany five years later. “ I've learned laboratory work from the bottom up,” says Gärtner. This can be of great benefit in her present field of work.
The specialty area of the medical professor is unclear illnesses, i.e. diseases that are yet to be given an official name. Jutta Gärtner heads the children's clinic at the University of Göttingen, where her priority area is neurodegenerative diseases. “ Children come here, for example, who initially developed normally and then at kindergarten or school age suddenly lost their previous motor and cognitive skills.” Based on individual medical histories and an in-depth study of the young patients, Jutta Gärtner and her team of experts search for the causes of attacks on the nervous system. If anything is positively identified, treatment options can be considered.
Retracing history: From symptoms to triggers
Most cases of infantile dementia can be traced back to inborn metabolic disorders: The affected nerve cells die following a disturbance of the cellular metabolism, and the accumulation of storage materials. “Brain matter that is gone can in general not be saved,” says Gärtner, stressing the need to help children as quickly as possible. Using MRI, the physicians investigate the structures of the brain that have already been attacked. Finally, the team of doctors and biologists employ biochemical and molecular genetic techniques to understand the metabolic pathways in the brain cells and to identify which genes may be involved. If they can work out which material is lacking, or what is available in too large quantities, it is then also sometimes possible to halt the attack on the brain of the child.
Some genetic defects are treatable
In the case of one young patient who was suddenly no longer able to walk, and who suffered from difficult-to-treat epilepsy, a strong folate deficiency came to light in a sample of extracted nerve fluids. Over months of intensive work, Gärtner and her team discovered a connection between a lack of vitamin B and the mutation of a gene. This interrupted the production of a folate receptor in the brain. The result: The folate could not enter the brain from the blood because the blood-brain barrier could not be penetrated. “This disease is now treatable with regular doses of folinic acid,” says Gärtner, adding: “ The feeling of being able to help encourages you to continue.” Unfortunately, the majority of neurodegenerative diseases are not yet treatable, but it is nevertheless important to find the genetic cause. “Many parents want to have more children, and a possible genetic defect can be found with the help of an early diagnosis.”
Child’s disease a burden for the whole family
Gärtner spends a great deal of her working hours with patients. This is important in order to provide support not only for the children but also for the parents, because a child’s illness is often traumatic for the entire family life. The DZNE was officially inaugurated in the early days of spring 2010, and had an initial focus on adult dementia. “ Many parents with children suffering from dementia felt overlooked, and spoke to me about this,” says Jutta Gärtner. Together with colleagues, she thus decided to launch a research alliance, which will soon begin work. “The real work is yet to come, the cooperation first has to be given life.” And Jutta Gärtner will definitely be staying on board.
Author: Ute Zauft
