Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) associated with a Novel C82R Mutation in the NOTCH3 Gene

Zea-Sevilla, Ma Ascensión; Bermejo-Velasco, Pedro; Serrano-Heranz, R.; Calero, Miguel

doi:10.3233/jad-141218

Cited by 2 publications

(2 citation statements)

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“…[71][72][73] As CADASIL inheritance is autosomal dominant, significant family history also supports the diagnosis, but given the possibility of variable presentation within families and the possibility of sporadic mutation, the absence of family history does not exclude CADASIL as a potential diagnosis. 74,75 The diagnosis is typically made by genetic testing for NOTCH3 mutations. Skin biopsy is an alternative to genetic testing and is…”

Section: Cadasilmentioning

confidence: 99%

“…Approximately half of patients with CADASIL have cerebral microbleeds, which are typically located in subcortical regions 71-73 . As CADASIL inheritance is autosomal dominant, significant family history also supports the diagnosis, but given the possibility of variable presentation within families and the possibility of sporadic mutation, the absence of family history does not exclude CADASIL as a potential diagnosis 74,75 . The diagnosis is typically made by genetic testing for NOTCH3 mutations.…”

Section: Cadasilmentioning

confidence: 99%

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Diagnosis and Management of Cerebral Small Vessel Disease

Sharrief¹

2023

CONTINUUM: Lifelong Learning in Neurology

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OBJECTIVECerebral small vessel disease (CSVD) is a common neurologic condition that contributes to considerable mortality and disability because of its impact on ischemic and hemorrhagic stroke risk and dementia. While attributes of the disease have been recognized for over two centuries, gaps in knowledge remain related to its prevention and management. The purpose of this review is to provide an overview of the current state of knowledge for CSVD.LATEST DEVELOPMENTSCSVD can be recognized by well-defined radiographic criteria, but the pathogenic mechanism behind the disease is unclear. Hypertension control remains the best-known strategy for stroke prevention in patients with CSVD, and recent guidelines provide a long-term blood pressure target of less than 130/80 mm Hg for patients with ischemic and hemorrhagic stroke, including those with stroke related to CSVD. Cerebral amyloid angiopathy is the second leading cause of intracerebral hemorrhage and may be increasingly recognized because of newer, more sensitive imaging modalities. Transient focal neurologic episodes is a relatively new term used to describe “amyloid spells.” Guidance on distinguishing these events from seizures and transient ischemic attacks has been published.ESSENTIAL POINTSCSVD is prevalent and will likely be encountered by all neurologists in clinical practice. It is important for neurologists to be able to recognize CSVD, both radiographically and clinically, and to counsel patients on the prevention of disease progression. Blood pressure control is especially relevant, and strategies are needed to improve blood pressure control for primary and secondary stroke prevention in patients with CSVD.

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Section: Cadasilmentioning

confidence: 99%

Section: Cadasilmentioning

confidence: 99%

Diagnosis and Management of Cerebral Small Vessel Disease

Sharrief¹

2023

CONTINUUM: Lifelong Learning in Neurology

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Imaging Characteristics of Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leucoencephalopathy (CADASIL)

Stojanov

Vojinović²,

Aracki-Trenkić³

et al. 2015

Bosn J of Basic Med Sci

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Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is an autosomal dominant vascular disorder. Diagnosis and follow-up in patients with CADASIL are based mainly on magnetic resonance imaging (MRI). MRI shows white matter hyperintensities (WMHs), lacunar infarcts and cerebral microbleeds (CMBs). WMHs lesions tend to be symmetrical and bilateral, distributed in the periventricular and deep white matter. The anterior temporal lobe and external capsules are predilection sites for WMHs, with higher specificity and sensitivity of anterior temporal lobe involvement compared to an external capsule involvement. Lacunar infarcts are presented by an imaging signal that has intensity of cerebrospinal fluid in all MRI sequences. They are localized within the semioval center, thalamus, basal ganglia and pons. CMBs are depicted as focal areas of signal loss on T2 images which increases in size on the T2*-weighted gradient echo planar images ("blooming effect").

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Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) associated with a Novel C82R Mutation in the NOTCH3 Gene

Cited by 2 publications

References 0 publications

Diagnosis and Management of Cerebral Small Vessel Disease

Diagnosis and Management of Cerebral Small Vessel Disease

Imaging Characteristics of Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leucoencephalopathy (CADASIL)

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