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.
Is Huntington’s disease autosomal dominant?
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.
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.
Where does the Haw River begin and end?
The Haw River flows 110 miles from its headwaters in the north-central Piedmont region of North Carolina to the Cape Fear River just below Jordan Lake Reservoir.
Is Huntington’s disease autosomal or Sexlinked?
Huntington’s disease (HD) as a rare neurodegenerative (recently reported peripheral tissue involvement), incurable—therefore still displaying natural course—disorder with an autosomal dominant pattern of inheritance with full penetrance in most cases (22).
What type of mutation causes SCA1?
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. Within cells, ataxin-1 is located in the nucleus .
Can you swim in the Haw River?
The river is dangerous during high water due to strong currents and pollution from stormwater and sewage overflows. The Haw River has claimed the lives of paddlers and swimmers over the years. Don’t swim when the water is high, and for paddlers, check the river gauges and river level safety information HERE.
What is dentatorubral pallidoluysian atrophy?
Background Dentatorubral-pallidoluysian atrophy (DRPLA) is a rare, autosomal dominantly inherited disorder characterized by myoclonus, epilepsy, ataxia, and dementia. Diagnosis is challenging due to the heterogeneous presentation and symptomatic overlap with other spinocerebellar ataxias.
What is the pathophysiology of DRPLA?
Dentatorubral-pallidoluysian atrophy (DRPLA) is a rare, autosomal dominantly inherited disorder characterized by myoclonus, epilepsy, ataxia, and dementia. Diagnosis is challenging due to the heterogeneous presentation and symptomatic overlap with other spinocerebellar ataxias.
What are the symptoms of DRPLA?
When DRPLA begins before 20 years of age, it typically involves:[1][3] Involuntary muscle jerking or twitching (myoclonus) Seizures Behavioral changes Intellectual disability(cognitive issues) Problems with balance and coordination (ataxia) Epileptic seizures occur in all people with onset before 20 years of age.
Is DRPLA an autosomal dominant disorder?
DRPLA is inheritedin an autosomal dominant manner.[1] This means that having a change (mutation) in only one copy of the responsible gene in each cellis enough to cause features of the condition. When a person with a mutation that causes an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit that mutation.