Paula and Bobby
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Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarctsand Leukoencephalopathy; CARASIL
What is Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarctsand Leukoencephalopathy; CARASIL?
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarctsand Leukoencephalopathy; CARASIL is a rare disease. It is also known as Binswanger-Like Leukoencephalopathy, with Alopecia in Families Cerebrovascular Disease With Thin Skin, Alopecia, And Disc Disease Maeda Syndrome Subcortical Vascular Encephalopathy, Progressive.
This is an unusual condition described in the Japanese, with an onset in early adulthood of low back pain and dementia. All patients develop pyramidal tract signs and a dysarthria and rigidity occurs in a half. Ataxia, ophthalmoplegia, and convulsions occurred in 3 out of 17 patients reported by Fukutake et al., (1995). The hair becomes progressively sparse (although alopecia is not total), and radiologically there is diffuse white matter disease on a vascular basis. Two sibs (with mutations) reported by Nishimoto et al., (2011), were without alopecia even many years after onset. The male:female ratio is 7.5:1 and the condition is recessive.
Arima et al., (2003) reviewed the saliant features of this condition: onset is in young adulthood, of an arteriosclerotic leukoencephalopathy, alopecia and lumbago, without arterial hypertension. Patients exhibit pyramidal, extrapyramidal, pseudobulbar features and ischemic episodes. MRI shows diffuse high signals in cerebral white matter and small foci in the basal ganglia, thalamus and brain stem. Small arteries show severe arteriosclerotic changes. PAS-positive granules, as seen in CADASIL are not found.
A European patient with a HTRA1 mutation was reported by Bianchi et al., (2014) and a Japanese family by Nozaki et al., (2014).
* This information is courtesy of the L M D.
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What gene changes cause Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarctsand Leukoencephalopathy; CARASIL?
The syndrome is inherited in the following inheritance pattern/s:
Autosomal Recessive - Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms but have a 25% chance of passing the copies of the gene mutations onto each of their children.
In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.
OMIM Number - 600142 (please check the OMIM page for updated information)
The syndrome can be caused by mutations in the following gene/s location/s:
HTRA1 - 10q26.13
What are the main symptoms of Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarctsand Leukoencephalopathy; CARASIL?
The typical symptoms of the syndrome are:
Nystagmus, Autosomal recessive inheritance, Spasticity, Rigidity, Pseudobulbar signs, Arteriosclerosis of small cerebral arteries, Low back pain, Alopecia, Urinary incontinence, Babinski sign, Ataxia, Gait disturbance, Hyperreflexia, Abnormality of extrapyramidal motor function, Dysarthria, Diffuse white matter abnormalities, Diffuse demyelination of the cerebral white matter, Progressive encephalopathy, Dementia
How does someone get tested for Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarctsand Leukoencephalopathy; CARASIL?
The initial testing for Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarctsand Leukoencephalopathy; CARASIL can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
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