Haws River Syndrome (DRPLA)
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Haws River Syndrome also called Dentatorubral-pallidoluysian atrophy (DRPLA), is a brain disorder caused by the expansion of polyQ in ATN1; and it’s characterized by causing severe neuronal damage and degeneration of brain tissue to patients. Most commonly found in Japan and some parts of North America and Europe.
DRPLA is inherited in an autosomal dominant pattern, meaning, is a dominant gene passed down (inherited), found in non-sex chromosomes. Usually one of the parents has the disease, with 50% probability of passing down the trait to their off springs. As a consequence, it can be diagnose in children and adults.
Depending on the age DRPLA appears, the symptoms will vary. If the patient is younger than 20 years, the symptoms will be