[Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CARASIL)].
Brain Nerve
; 69(1): 25-33, 2017 Jan.
Article
em Ja
| MEDLINE
| ID: mdl-28126975
ABSTRACT
Cerebral small vessel disease (CSVD) is frequently observed among the elderly and is known to cause dementia and gait disturbance associated with white matter lesions, lacunar infarcts, and cerebral hemorrhage. Molecular mechanistic studies promise to provide new insights into the pathogenesis of hereditary CSVD. Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is one of the hereditary CSVDs caused by a mutation in the high-temperature requirement serine peptidase A1 (HTRA1) gene. The loss of HTRA1 protease activity increases signaling via transforming growth factor (TGF)ß, thereby resulting in CARASIL. Although the CARASIL has been characterized by juvenile onset alopecia and spondylosis deformans, these features are not always observed in individuals with an HTRA1 mutation. Moreover, some HTRA1 mutations cause CSVD in heterozygous states. Therefore, the clinical features of CSVD resulting from an HTRA1 mutation extend to patients with CSVD alone or to those with dominantly inherited CSVD.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doenças da Coluna Vertebral
/
Infarto Cerebral
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Alopecia
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Leucoencefalopatias
Limite:
Adolescent
/
Adult
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Child
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Child, preschool
/
Female
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Humans
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Infant
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Male
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Middle aged
/
Newborn
Idioma:
Ja
Revista:
Brain Nerve
Assunto da revista:
CEREBRO
/
NEUROLOGIA
Ano de publicação:
2017
Tipo de documento:
Article