CARASIL
| Classification according to ICD-10 | |
|---|---|
| F01.1 | Multi-infarct dementia |
| ICD-10 online (WHO version 2019) | |
CARASIL , acronym for C erebral A utosomal - R ezessive A rteriopathie with S ubcorticalen I nfarkten and L eukenzephalopathie , is a very rare congenital disease of the small cerebral vessels with gait disorders , premature hair loss of the scalp, ischemic stroke , back pain and dementia .
Synonyms are: Maeda syndrome; Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal recessive; English Subcortical Vascular Encephalopathy, Progressive; Cerebrovascular Disease With Thin Skin, Alopecia, And Disc Disease
The name refers to the first author of the first description from 1976 by the Japanese doctor S. Maeda and colleagues.
The disease should not be confused with the autosomal dominant inherited, clinically less pronounced CADASIL .
distribution
The frequency is not known. So far, about 50 people have been reported, mostly from Japan and China, but also from Europe. The male sex is affected a little more often, the inheritance is autosomal - recessive .
root cause
Of the disease are mutations in HTRA1 - gene on chromosome 10 locus q26.13 based encoding the HtrA serine peptidase 1 protein.
Clinical manifestations
Clinical criteria are:
- often diffuse alopecia as the first symptom
- Gait disorder often before the age of 30
- Pain attacks in the back, often herniated disc , spondylosis deformans with osteoporosis
- typical lacunar infarction in 50%
- gradual deterioration in brain functions, mainly forgetfulness
- Pseudobulbar palsy , hyperreflexia , ophthalmoplegia .
diagnosis
The diagnosis is based on the clinical signs of the disease; imaging, usually with magnetic resonance imaging, shows symmetrical hyperintensities in the white matter and multiple lacunar infarcts, usually in the basal ganglia and the thalamus .
Differential diagnosis
The following are to be distinguished:
- Subcortical arteriosclerotic encephalopathy (Binswanger's disease)
- CADASIL
- Nasu Hakola disease
- chronic progressive multiple sclerosis
- Hereditary diffuse leukoencephalopathy with axonal spheroids
- Progeria (Hutchinson-Gilford syndrome)
- Werner syndrome
- Cerebral vasculitis
Prospect of healing
The prognosis is unfavorable; the mean duration of illness is 10 years.
literature
- N. Devaraddi, G. Jayalakshmi, NR Mutalik: CARASIL, a rare genetic cause of stroke in the young. In: Neurology India. Volume 66, Number 1, 2018 Jan – Feb, pp. 232–234, doi: 10.4103 / 0028-3886.222859 , PMID 29322992 .
- M. Ibrahimi, H. Nozaki, A. Lee, O. Onodera, R. Reichwein, M. Wicklund, M. El-Ghanem: A CARASIL Patient from Americas with Novel Mutation and Atypical Features: Case Presentation and Literature Review. In: Cerebrovascular diseases. Volume 44, number 3-4, 2017, pp. 135-140, doi: 10.1159 / 000477358 , PMID 28628911 (review).
Individual evidence
- ↑ a b c d e f CARASIL. In: Orphanet (Rare Disease Database).
- ^ S. Maeda, H. Nakayama, K. Isaka, Y. Aihara, S. Nemoto: Familial unusual encephalopathy of Binswanger's type without hypertension. In: Folia psychiatrica et neurologica japonica. Volume 30, Number 2, 1976, pp. 165-177, PMID 971885 .
- ↑ a b Radiopaedia
- ^ Genetics Home Reference
- ^ S. Bianchi, C. Di Palma, GN Gallus, I. Taglia, A. Poggiani, F. Rosini, A. Rufa, DF Muresanu, A. Cerase, MT Dotti, A. Federico: Two novel HTRA1 mutations in a European CARASIL patient. In: Neurology. Volume 82, Number 10, March 2014, pp. 898-900, doi: 10.1212 / WNL.0000000000000202 , PMID 24500651 .
- ↑ CARASIL syndrome. In: Online Mendelian Inheritance in Man . (English)
