CARASIL: Difference between revisions
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{{Infobox medical condition | |||
| name = CARASIL | |||
| image = [[File:Autosomal_recessive_-_en.svg|200px]] | |||
| caption = CARASIL is inherited in an [[autosomal recessive]] pattern. | |||
| synonyms = Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy | |||
| specialty = [[Neurology]] | |||
| symptoms = [[Stroke]], [[dementia]], [[alopecia]], [[spondylosis]] | |||
| onset = Early adulthood | |||
| duration = Progressive | |||
| causes = Mutations in the [[HTRA1]] gene | |||
| risks = Family history | |||
| diagnosis = [[Genetic testing]], [[MRI]] | |||
| differential = [[CADASIL]], [[multiple sclerosis]], [[vascular dementia]] | |||
| treatment = Symptomatic management | |||
| prognosis = Poor | |||
| frequency = Rare | |||
}} | |||
{{Short description|A rare genetic disorder affecting the brain's small blood vessels}} | {{Short description|A rare genetic disorder affecting the brain's small blood vessels}} | ||
'''CARASIL''' (Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a rare [[genetic disorder]] that affects the small blood vessels in the [[brain]]. It is characterized by a combination of neurological and non-neurological symptoms, including [[subcortical infarcts]], [[leukoencephalopathy]], [[alopecia]], and [[spondylosis]]. | '''CARASIL''' (Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a rare [[genetic disorder]] that affects the small blood vessels in the [[brain]]. It is characterized by a combination of neurological and non-neurological symptoms, including [[subcortical infarcts]], [[leukoencephalopathy]], [[alopecia]], and [[spondylosis]]. | ||
==Genetics== | ==Genetics== | ||
CARASIL is inherited in an [[autosomal recessive]] manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the disorder. The condition is caused by mutations in the ''[[HTRA1]]'' gene, which encodes a serine protease involved in the regulation of [[TGF-beta signaling]]. | CARASIL is inherited in an [[autosomal recessive]] manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the disorder. The condition is caused by mutations in the ''[[HTRA1]]'' gene, which encodes a serine protease involved in the regulation of [[TGF-beta signaling]]. | ||
==Pathophysiology== | ==Pathophysiology== | ||
The ''HTRA1'' gene mutations lead to a loss of function of the HTRA1 protein, resulting in abnormal [[TGF-beta]] signaling. This disruption affects the integrity and function of the small blood vessels in the brain, leading to the characteristic features of CARASIL. The [[vascular changes]] result in [[ischemic events]] and [[white matter]] changes, contributing to the neurological symptoms. | The ''HTRA1'' gene mutations lead to a loss of function of the HTRA1 protein, resulting in abnormal [[TGF-beta]] signaling. This disruption affects the integrity and function of the small blood vessels in the brain, leading to the characteristic features of CARASIL. The [[vascular changes]] result in [[ischemic events]] and [[white matter]] changes, contributing to the neurological symptoms. | ||
==Clinical Features== | ==Clinical Features== | ||
CARASIL typically presents in early adulthood, although symptoms can appear in adolescence. The main clinical features include: | CARASIL typically presents in early adulthood, although symptoms can appear in adolescence. The main clinical features include: | ||
* '''Neurological symptoms''': Progressive [[dementia]], [[pseudobulbar palsy]], and [[ataxia]] are common. Patients may also experience [[stroke]]-like episodes due to subcortical infarcts. | * '''Neurological symptoms''': Progressive [[dementia]], [[pseudobulbar palsy]], and [[ataxia]] are common. Patients may also experience [[stroke]]-like episodes due to subcortical infarcts. | ||
* '''Alopecia''': Early-onset [[hair loss]] is a distinctive feature of CARASIL, often occurring in the second or third decade of life. | * '''Alopecia''': Early-onset [[hair loss]] is a distinctive feature of CARASIL, often occurring in the second or third decade of life. | ||
* '''Spondylosis''': Degenerative changes in the [[spine]], particularly in the [[lumbar region]], are frequently observed. | * '''Spondylosis''': Degenerative changes in the [[spine]], particularly in the [[lumbar region]], are frequently observed. | ||
==Diagnosis== | ==Diagnosis== | ||
The diagnosis of CARASIL is based on clinical evaluation, [[neuroimaging]], and genetic testing. [[MRI]] scans typically reveal [[leukoencephalopathy]] and subcortical infarcts. Genetic testing can confirm the presence of mutations in the ''HTRA1'' gene. | The diagnosis of CARASIL is based on clinical evaluation, [[neuroimaging]], and genetic testing. [[MRI]] scans typically reveal [[leukoencephalopathy]] and subcortical infarcts. Genetic testing can confirm the presence of mutations in the ''HTRA1'' gene. | ||
==Management== | ==Management== | ||
There is currently no cure for CARASIL, and treatment is primarily supportive. Management focuses on alleviating symptoms and preventing complications. [[Physical therapy]], [[occupational therapy]], and [[speech therapy]] may be beneficial for managing neurological symptoms. Regular monitoring and management of [[cardiovascular risk factors]] are also important. | There is currently no cure for CARASIL, and treatment is primarily supportive. Management focuses on alleviating symptoms and preventing complications. [[Physical therapy]], [[occupational therapy]], and [[speech therapy]] may be beneficial for managing neurological symptoms. Regular monitoring and management of [[cardiovascular risk factors]] are also important. | ||
==Prognosis== | ==Prognosis== | ||
The prognosis for individuals with CARASIL varies, but the condition is progressive and can lead to significant disability. The rate of progression and severity of symptoms can differ among affected individuals. | The prognosis for individuals with CARASIL varies, but the condition is progressive and can lead to significant disability. The rate of progression and severity of symptoms can differ among affected individuals. | ||
==See also== | |||
== | |||
* [[CADASIL]] | * [[CADASIL]] | ||
* [[Leukoencephalopathy]] | * [[Leukoencephalopathy]] | ||
* [[Genetic disorders]] | * [[Genetic disorders]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Neurological disorders]] | [[Category:Neurological disorders]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
Latest revision as of 21:01, 4 April 2025
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| CARASIL | |
|---|---|
| |
| Synonyms | Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy |
| Pronounce | N/A |
| Specialty | Neurology |
| Symptoms | Stroke, dementia, alopecia, spondylosis |
| Complications | N/A |
| Onset | Early adulthood |
| Duration | Progressive |
| Types | N/A |
| Causes | Mutations in the HTRA1 gene |
| Risks | Family history |
| Diagnosis | Genetic testing, MRI |
| Differential diagnosis | CADASIL, multiple sclerosis, vascular dementia |
| Prevention | N/A |
| Treatment | Symptomatic management |
| Medication | N/A |
| Prognosis | Poor |
| Frequency | Rare |
| Deaths | N/A |
A rare genetic disorder affecting the brain's small blood vessels
CARASIL (Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a rare genetic disorder that affects the small blood vessels in the brain. It is characterized by a combination of neurological and non-neurological symptoms, including subcortical infarcts, leukoencephalopathy, alopecia, and spondylosis.
Genetics[edit]
CARASIL is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the disorder. The condition is caused by mutations in the HTRA1 gene, which encodes a serine protease involved in the regulation of TGF-beta signaling.
Pathophysiology[edit]
The HTRA1 gene mutations lead to a loss of function of the HTRA1 protein, resulting in abnormal TGF-beta signaling. This disruption affects the integrity and function of the small blood vessels in the brain, leading to the characteristic features of CARASIL. The vascular changes result in ischemic events and white matter changes, contributing to the neurological symptoms.
Clinical Features[edit]
CARASIL typically presents in early adulthood, although symptoms can appear in adolescence. The main clinical features include:
- Neurological symptoms: Progressive dementia, pseudobulbar palsy, and ataxia are common. Patients may also experience stroke-like episodes due to subcortical infarcts.
- Alopecia: Early-onset hair loss is a distinctive feature of CARASIL, often occurring in the second or third decade of life.
- Spondylosis: Degenerative changes in the spine, particularly in the lumbar region, are frequently observed.
Diagnosis[edit]
The diagnosis of CARASIL is based on clinical evaluation, neuroimaging, and genetic testing. MRI scans typically reveal leukoencephalopathy and subcortical infarcts. Genetic testing can confirm the presence of mutations in the HTRA1 gene.
Management[edit]
There is currently no cure for CARASIL, and treatment is primarily supportive. Management focuses on alleviating symptoms and preventing complications. Physical therapy, occupational therapy, and speech therapy may be beneficial for managing neurological symptoms. Regular monitoring and management of cardiovascular risk factors are also important.
Prognosis[edit]
The prognosis for individuals with CARASIL varies, but the condition is progressive and can lead to significant disability. The rate of progression and severity of symptoms can differ among affected individuals.
