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CARASAL
Medical condition From Wikipedia, the free encyclopedia
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Cathepsin-A Related Arteriopathy with Strokes And Leukoencephalopathy (CARASAL) is a rare genetic disorder that is caused by mutation in a gene CTSA which is located on a chromosome 20.[1] This disease is allelic to Galactosialidosis.[2] This disease usually begins with a headache, decreased concentration, abnormalities in gait, lack of inhibition, also it usually presents with migraine, depression, vertigo and high blood preasure.[3]
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Symptoms
The signs of this disease are: migraine, mini-stroke, facial palsy, dementia, depression, problems with concentration and movements, vertigo, difficulty in swallowing, slurring of speech, sicca symptoms, problems with REM sleep and drug-resistant hypertension.[4]
This condition usually manifest in the third to fifth decades of life.[5]
Cause
CARASAL is caused by mutation of the CTSA which codes enzyme Cathespin A.[5] CTSA gene is located on 20q13.12.[6]
This disease is inherited in autosomal dominant fashion, which means that mutation of one gene copy is enough to cause the disorder.[7][5]
According to some studies, the c.973C→T (p.R325C) mutation is associated with that disorder.[8][2]
Pathophysiology
Cathespin A is a lysosomal enzyme which main function is to form complex between β-galactosidase and Neurominidase 1 in lysosomes to protect them from degradation.[9] Also it is known that Cathespin A degrades Endothelin-1 and consequently it is known that Endothelin-1 might cause inhibition of oligodendrocyte progenitor cell maturation and remyelination through reactive astrocytes mechanism.[10][11]
As mentioned at the beginning of the article, CARASAL is allelic to Galactosialidosis, although Galactosialidosis is an autosomal recessive disorder.[2][12]
Diagnosis
CARASAL can be diagnosed by MRI investigation and by confirmation of the mutation in CTSA gene, also CARASAL should be considered in case of: [13]
- Middle-age patients with Cerebral Small Vessel Disease (cSVD).
- Positive family history of stroke.
- Broad, unexplained, infra/supratentorial white and grey matter hyperintensities (a.k.a. bright signals on MRI image).
- Neurotological problems.
Treatment
This disease doesn't have a cure, although symptomatic management is available.[1]
Prognosis
It is believed that life expectancy is similar to unaffected person.[3]
History
CARASAL was described in 5 French patients by Herve et al.[14]
See also
References
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