Familial British dementia: Difference between revisions
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{{Infobox medical condition | |||
| name = Familial British dementia | |||
| synonyms = FBD | |||
| specialty = [[Neurology]] | |||
| symptoms = [[Dementia]], [[cerebellar ataxia]], [[spasticity]] | |||
| onset = Typically in the fifth decade of life | |||
| duration = Progressive | |||
| causes = Mutation in the [[ITM2B]] gene | |||
| risks = [[Genetic predisposition]] | |||
| diagnosis = [[Genetic testing]], [[neurological examination]] | |||
| treatment = Supportive care | |||
| prognosis = Poor, with progressive decline | |||
| frequency = Very rare | |||
}} | |||
'''Familial British dementia''' (FBD) is a rare form of [[dementia]] that is inherited in an [[autosomal dominant]] manner. It is characterized by progressive dementia, spasticity, and ataxia. The disease is caused by a mutation in the [[BRI2]] gene. | '''Familial British dementia''' (FBD) is a rare form of [[dementia]] that is inherited in an [[autosomal dominant]] manner. It is characterized by progressive dementia, spasticity, and ataxia. The disease is caused by a mutation in the [[BRI2]] gene. | ||
== Symptoms == | == Symptoms == | ||
The symptoms of Familial British dementia typically begin in mid-adulthood and progress slowly over the course of several years. They include: | The symptoms of Familial British dementia typically begin in mid-adulthood and progress slowly over the course of several years. They include: | ||
* Progressive [[dementia]] | * Progressive [[dementia]] | ||
* [[Spasticity]] | * [[Spasticity]] | ||
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* [[Myoclonus]] | * [[Myoclonus]] | ||
* [[Seizures]] | * [[Seizures]] | ||
== Causes == | == Causes == | ||
Familial British dementia is caused by a mutation in the BRI2 gene. This gene provides instructions for making a protein that is found in many tissues, including the brain. The exact function of this protein is not known, but it is thought to play a role in the normal functioning of nerve cells (neurons). | Familial British dementia is caused by a mutation in the BRI2 gene. This gene provides instructions for making a protein that is found in many tissues, including the brain. The exact function of this protein is not known, but it is thought to play a role in the normal functioning of nerve cells (neurons). | ||
== Diagnosis == | == Diagnosis == | ||
Diagnosis of Familial British dementia is based on the presence of characteristic clinical features and a family history of the disease. Genetic testing can confirm the diagnosis. | Diagnosis of Familial British dementia is based on the presence of characteristic clinical features and a family history of the disease. Genetic testing can confirm the diagnosis. | ||
== Treatment == | == Treatment == | ||
There is currently no cure for Familial British dementia. Treatment is supportive and aimed at managing symptoms. | There is currently no cure for Familial British dementia. Treatment is supportive and aimed at managing symptoms. | ||
== See also == | == See also == | ||
* [[Dementia]] | * [[Dementia]] | ||
* [[BRI2]] | * [[BRI2]] | ||
* [[Autosomal dominant]] | * [[Autosomal dominant]] | ||
== References == | == References == | ||
<references /> | <references /> | ||
{{stub}} | {{stub}} | ||
[[Category:Neurological disorders]] | [[Category:Neurological disorders]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
Latest revision as of 05:05, 4 April 2025
| Familial British dementia | |
|---|---|
| Synonyms | FBD |
| Pronounce | N/A |
| Specialty | Neurology |
| Symptoms | Dementia, cerebellar ataxia, spasticity |
| Complications | N/A |
| Onset | Typically in the fifth decade of life |
| Duration | Progressive |
| Types | N/A |
| Causes | Mutation in the ITM2B gene |
| Risks | Genetic predisposition |
| Diagnosis | Genetic testing, neurological examination |
| Differential diagnosis | N/A |
| Prevention | N/A |
| Treatment | Supportive care |
| Medication | N/A |
| Prognosis | Poor, with progressive decline |
| Frequency | Very rare |
| Deaths | N/A |
Familial British dementia (FBD) is a rare form of dementia that is inherited in an autosomal dominant manner. It is characterized by progressive dementia, spasticity, and ataxia. The disease is caused by a mutation in the BRI2 gene.
Symptoms[edit]
The symptoms of Familial British dementia typically begin in mid-adulthood and progress slowly over the course of several years. They include:
Causes[edit]
Familial British dementia is caused by a mutation in the BRI2 gene. This gene provides instructions for making a protein that is found in many tissues, including the brain. The exact function of this protein is not known, but it is thought to play a role in the normal functioning of nerve cells (neurons).
Diagnosis[edit]
Diagnosis of Familial British dementia is based on the presence of characteristic clinical features and a family history of the disease. Genetic testing can confirm the diagnosis.
Treatment[edit]
There is currently no cure for Familial British dementia. Treatment is supportive and aimed at managing symptoms.
See also[edit]
References[edit]
<references />
