What is NUS1?
NUS1 is a gene on chromosome 6q22.1. Mutations within the NUS1 gene lead to a diagnosis of NUS1 genetic disorder. If both copies of the NUS1 gene bear a mutation, a severe, ultra-rare disorder called NUS1-CDG can occur. Most patients, however, have a mutation on only one copy of the gene but that is sufficient to cause a progressive neurological condition. This disorder can manifest differently between patients, but most often shares some common characteristics that include tremors, epilepsy, ataxia and cognitive delays.
The NUS1 gene encodes a protein called the NogoB Receptor (NgBR). This protein plays numerous roles inside the cell. It interacts with another protein encoded by the DHDDS gene to help make a lipid molecule called dolichol. We need dolichol for a process called glycosylation where sugar chains get added to proteins so they can function properly. NgBR also regulates the function of proteins that move cholesterol out of lysosomes, the recycling compartment of the cell. When NUS1 mutations alter NgBR function, cholesterol can build up in lysosomes causing damage to cells in the central nervous system.
NUS1 disorders can have other varying symptoms as well. Patient families report a wide variety of additional concerns. Because a formal natural history study (a study that tracks how patient symptoms arise and change over time) has not been done, it is difficult to pinpoint every symptom that is attributable to the mutation.
Patients and their families can feel isolated because of the complexity of living with an ultra-rare condition. The NUS1 Foundation's research fundraising will help refine our understanding of what to expect in patients with NUS1 disorders.
Contributions and confirmation by Dr. Steet, Scientific Advisor for NUS1 Foundation, Greenwood Genetic Center
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"When you have a rare disease you face two battles: one, the illness itself, and the other, living in a world where so few people understand what you are up against."
NORD (National Organization of Rare Disorders)
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Common Features of NUS1 Mutations
During a seizure, many neurons send signals at the same time, much faster than normal. This surge of excessive electrical activity may cause involuntary movements, sensations, emotions, and/or behaviors. NUS1 patients have a wide variety of seizure types including myoclonic, tonic clonic, absence and others.
Tremors
A tremor is a neurological condition that includes shaking or trembling movements in one or more parts of the body, most commonly affecting a person’s hands. NUS1 patients have also reported tremors in the arms, legs, head, eyes, and torso. The tremor may be constant, or only happen sometimes.
During a seizure, many neurons send signals at the same time, much faster than normal. This surge of excessive electrical activity may cause involuntary movements, sensations, emotions, and/or behaviors. NUS1 patients have a wide variety of seizure types including myoclonic, tonic clonic, absence and others.
Ataxia
Ataxia describes poor muscle control that causes clumsy movements. It can affect walking, balance, hand coordination, and eye movements. NUS1 individuals can also experience gait disturbances-the slowing of gait speed (the pattern of how a person walks) or a change in the smoothness or symmetry of body movement.
During a seizure, many neurons send signals at the same time, much faster than normal. This surge of excessive electrical activity may cause involuntary movements, sensations, emotions, and/or behaviors. NUS1 patients have a wide variety of seizure types including myoclonic, tonic clonic, absence and others.
Epilepsy
During a seizure, many neurons send signals at the same time, much faster than normal. This surge of excessive electrical activity may cause involuntary movements, sensations, emotions, and/or behaviors. NUS1 patients have a wide variety of seizure types including myoclonic, tonic clonic, absence and others.
During a seizure, many neurons send signals at the same time, much faster than normal. This surge of excessive electrical activity may cause involuntary movements, sensations, emotions, and/or behaviors. NUS1 patients have a wide variety of seizure types including myoclonic, tonic clonic, absence and others.
Cognitive Delays
Cognitive delays include developmental domains such as speech and language and learning cognition. Many NUS1 individuals receive a diagnosis of Intellectual disability (ID). ID involves problems with general mental abilities that affect both intellectual functioning (such as learning and reasoning) and adaptive functioning.
Rare Disease Day
Is
Feb 28th
NUS1 Mutations are
Rare & Rare is Beautiful
A rare disorder is a disease or condition that affects fewer than 200,000 Americans. NUS1 disorders have less than 100 cases reported worldwide.
"The zebra is the official symbol of rare diseases in the United States and is noted for its black and white stripes, which are central to its uniqueness."
NORD(National Organization for Rare Disease)