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Let's get down to the nitty-gritty: the genetic basis of the *Katwijkse Ziekte*. As mentioned earlier, this variant is caused by a specific deletion mutation in the *HTT* gene, the gene responsible for producing the huntingtin protein. The deletion mutation results in a shorter version of the huntingtin protein. The common form of HD is caused by an expansion of a CAG repeat in the *HTT* gene, but the Katwijk variant differs by having a *deletion* within the gene. Although the basic mechanism is the same – a faulty huntingtin protein – the specific nature of the genetic change gives the *Katwijkse Ziekte* its unique features. This unique genetic alteration leads to differences in how the protein is produced and how it interacts within the brain. The clinical presentation, or the symptoms and how they develop, in individuals with the Katwijk variant can differ somewhat from those with the more common form of HD. For example, some studies suggest that the progression of the disease might be slower in the *Katwijkse Ziekte* than in other forms of HD. However, everyone's experience with HD, including the *Katwijkse Ziekte*, is highly variable. The specific symptoms, the age of onset, and the rate of progression can differ greatly, depending on various factors like genetic background, other environmental factors, and lifestyle.
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