Cerebral small vessel disease related to a heterozygous nonsense mutation in HTRA1

K Ohta, T Ozawa, H Fujinaka, K Goto, T Nakajima - Internal Medicine, 2020 - jstage.jst.go.jp
Homozygous or compound heterozygous mutations in the high-temperature requirement A
serine protease 1 gene (HTRA1) cause cerebral autosomal recessive arteriopathy with …

Heterozygous mutations of HTRA1 gene in patients with familial cerebral small vessel disease

I Di Donato, S Bianchi, GN Gallus… - CNS neuroscience & …, 2017 - Wiley Online Library
Aims Cerebral small vessel disease (SVD) is the leading cause of vascular dementia.
Although the most of cases are sporadic, familial monogenic causes have been identified in …

[HTML][HTML] HTRA1 disorder

O Onodera, H Nozaki, T Fukutake - 2019 - europepmc.org
HTRA1 disorder is a phenotypic spectrum in which some individuals have few to no
symptoms and others manifest with the more severe CARASIL (cerebral autosomal …

The first Greek case of heterozygous cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy: an atypical clinico-radiological …

A Bougea, G Velonakis, N Spantideas… - The Neuroradiology …, 2017 - journals.sagepub.com
Cerebral autosomal recessive arteriopathy with subcortical infarcts and
leukoencephalopathy (CARASIL) was previously considered a rare, early-onset recessive …

[引用][C] Cerebral small vessel disease caused by a novel heterozygous mutation in HTRA1

FS Thaler, C Catak, M Einhäupl, S Müller… - Journal of the …, 2018 - jns-journal.com
Cerebral small vessel disease (SVD) is a mostly sporadic disorder leading to stroke and
cognitive impairment. In very rare cases homozygous mutations of the HTRA1 gene (high …

A new Italian family with HTRA1 mutation associated with autosomal-dominant variant of CARASIL: are we pointing towards a disease spectrum?

S Favaretto, M Margoni, L Salviati, L Pianese… - Journal of the …, 2019 - Elsevier
Cerebral small vessel disease (SVD) is recognized to be the leading cause of vascular
dementia. Although the most cases are sporadic, familial monogenic causes have been …

A novel mutation of the high-temperature requirement A serine peptidase 1 (HTRA1) gene in a Chinese family with cerebral autosomal recessive arteriopathy with …

Y Chen, Z He, S Meng, L Li, H Yang… - Journal of international …, 2013 - journals.sagepub.com
Objective: Mutations in the high-temperature requirement A serine peptidase 1 (HTRA1)
gene were studied in a Chinese family with cerebral autosomal recessive arteriopathy with …

Distinct molecular mechanisms of HTRA1 mutants in manifesting heterozygotes with CARASIL

H Nozaki, T Kato, M Nihonmatsu, Y Saito, I Mizuta… - Neurology, 2016 - AAN Enterprises
Objective: To elucidate the molecular mechanism of mutant HTRA1-dependent cerebral
small vessel disease in heterozygous individuals. Methods: We recruited 113 unrelated …

[HTML][HTML] Association of HTRA1 mutations and familial ischemic cerebral small-vessel disease

K Hara, A Shiga, T Fukutake, H Nozaki… - … England Journal of …, 2009 - Mass Medical Soc
Background The genetic cause of cerebral autosomal recessive arteriopathy with subcortical
infarcts and leukoencephalopathy (CARASIL), which is characterized by ischemic …

Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL): A challenging diagnosis and a rare multiple sclerosis mimic

B Shirah, H Algahtani, R Algahtani, A Alfares… - Journal of Stroke and …, 2023 - Elsevier
Cerebral autosomal recessive arteriopathy with subcortical infarcts and
leukoencephalopathy (CARASIL) is an extremely rare hereditary cerebral small vessel …