What is Dentatorubral pallidoluysian atrophy?
Dentatorubral-pallidoluysian atrophy, commonly known as DRPLA, is a progressive brain disorder that causes involuntary movements, mental and emotional problems, and a decline in thinking ability. The average age of onset of DRPLA is 30 years, but this condition can appear anytime from infancy to mid-adulthood.
What is Haw River syndrome?
He has a rare genetic condition called Haw River Syndrome. It is a neurological condition seen in several generations of one local family which damages nerve tissue leading to the loss of control of body movements, seizures, dementia and is eventually fatal.
What genetic mutation is responsible for the SCA1 disease and what consequences it has on protein primary structure?
Mutations in the ATXN1 gene cause SCA1. The ATXN1 gene provides instructions for making a protein called ataxin-1. This protein is found throughout the body, but its function is unknown.
How polluted is the Haw River?
The Haw River watershed has one of the highest levels in NC for unregulated industrial chemicals such as PFAS and 1,4-dioxane. Read more about industrial contaminants.
What are the symptoms of SCA1?
People with this condition initially experience problems with coordination and balance (ataxia). Other signs and symptoms of SCA1 include speech and swallowing difficulties, muscle stiffness (spasticity), and weakness in the muscles that control eye movement (ophthalmoplegia).
How is SCA1 inherited?
SCA1 is typically inherited from the parents in an autosomal dominant regime; the children of a person with the disease have a 50% chance of inheriting it themselves, and new mutations can occur in some cases.
Is Huntington’s always inherited?
Huntington’s disease is caused by an inherited defect in a single gene. Huntington’s disease is an autosomal dominant disorder, which means that a person needs only one copy of the defective gene to develop the disorder.
How does a person inherit Huntington’s disease?
This condition is inherited in an autosomal dominant pattern , which means one copy of the altered gene in each cell is sufficient to cause the disorder. An affected person usually inherits the altered gene from one affected parent.
Is the Haw river Clean?
The Haw River is threatened by polluted runoff– rainwater that picks up pollution as it flows over roads and parking lots – and sewage leaking from outdated and overtaxed wastewater pipes. …
What are the symptoms of dentatorubral pallidoluysian atrophy?
Dentatorubral–pallidoluysian atrophy (DRPLA) is a rare autosomal dominant neurodegenerative disorder clinically characterized by various combinations of cerebellar ataxia, choreoathetosis, myoclonus, epilepsy, dementia, and psychiatric symptoms.
Who was the first person to have pallidoluysian atrophy?
The first description of dentatorubral pallidoluysian atrophy (DRPLA), was by Titica and van Boegaert in 1946, when they reported two cases in a single family with progressive choreoathetosis, ataxia, and dementia. Autopsy of one patient revealed atrophy of both the pallidoluysian and dentatorubral systems.
What are the most common clinical manifestations of DRPLA?
The clinical picture of DRPLA is characterized by a wide range of clinical manifestations, the precise nature of which depend on age of onset and repeat length. The most constant clinical findings in DRPLA are cerebellar ataxia, dysarthria, and progressive dementia.
How is the dentatorubral system affected by DRPLA?
The degenerative pathological changes seen in DRPLA mainly affect the dentate nucleus, with its projection to the red nucleus, and the external pallidum, with its projection to the subthalamic nucleus. Usually, the dentatorubral system is more severely affected.