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Hereditary cerebral amyloid angiopathy mimicking CADASIL syndrome.

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Title: Hereditary cerebral amyloid angiopathy mimicking CADASIL syndrome.
Authors: Psychogios, Klearchos (AUTHOR), Xiromerisiou, Georgia (AUTHOR), Kargiotis, Odysseas (AUTHOR), Safouris, Apostolos (AUTHOR), Fiolaki, Aidonio (AUTHOR), Bonakis, Anastasios (AUTHOR), Paraskevas, Georgios P. (AUTHOR), Giannopoulos, Sotirios (AUTHOR), Tsivgoulis, Georgios (AUTHOR)
Source: European Journal of Neurology. Nov2021, Vol. 28 Issue 11, p3866-3869. 4p.
Subjects: Cerebral amyloid angiopathy, Magnetic resonance imaging, Amyloid beta-protein precursor, Brain tomography, Diagnosis, Syndromes
Abstract: Background: Small vessel disease (SVD), and most specifically hereditary forms like CADASIL and cerebral amyloid angiopathy (hCAA), are conditions of increasing clinical importance. We report a rare case of hCAA in a Greek family that presented with a CADASIL clinical and neuroimaging phenotype. Methods: A 65‐year‐old man was admitted with recurrent transient episodes of right leg numbness. The patient's medical history started at the age of 50 years with depression and behavioral disorders. His family history was positive for stroke (father), dementia (father and brother), migraine (daughter) and depression (father and daughter). Results: Neurological examination disclosed anomic aphasia with severely impaired cognitive status, and brisk reflexes. Brain computed tomography and magnetic resonance imaging showed CADASIL‐like leukoencephalopathy (hyperintense lesions in bilateral temporopolar area, external capsule, thalami, centrum semiovale and superior frontal regions) with occipital calcifications and cerebral microbleeds. Screen for variants in NOTCH3 gene was negative. Exome sequencing revealed a novel pathogenic mutation for hCAA. Conclusions: We report a novel amyloid precursor protein mutation which results in a CADASIL‐like clinical phenotype (progressive cognitive and motor decline, stroke, migraine and behavioral disorders) and CADASIL‐leukoencephalopathy coupled with occipital calcifications. Earlier recognition and swift hCAA diagnosis may prompt rational preventive and potential disease‐modifying interventions. [ABSTRACT FROM AUTHOR]
Copyright of European Journal of Neurology is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Database: Psychology and Behavioral Sciences Collection
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  Label: Title
  Group: Ti
  Data: Hereditary cerebral amyloid angiopathy mimicking CADASIL syndrome.
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  Data: <searchLink fieldCode="AR" term="%22Psychogios%2C+Klearchos%22">Psychogios, Klearchos</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Xiromerisiou%2C+Georgia%22">Xiromerisiou, Georgia</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Kargiotis%2C+Odysseas%22">Kargiotis, Odysseas</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Safouris%2C+Apostolos%22">Safouris, Apostolos</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Fiolaki%2C+Aidonio%22">Fiolaki, Aidonio</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Bonakis%2C+Anastasios%22">Bonakis, Anastasios</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Paraskevas%2C+Georgios+P%2E%22">Paraskevas, Georgios P.</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Giannopoulos%2C+Sotirios%22">Giannopoulos, Sotirios</searchLink> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Tsivgoulis%2C+Georgios%22">Tsivgoulis, Georgios</searchLink> (AUTHOR)
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  Data: <searchLink fieldCode="JN" term="%22European+Journal+of+Neurology%22">European Journal of Neurology</searchLink>. Nov2021, Vol. 28 Issue 11, p3866-3869. 4p.
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  Label: Subjects
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  Data: <searchLink fieldCode="DE" term="%22Cerebral+amyloid+angiopathy%22">Cerebral amyloid angiopathy</searchLink><br /><searchLink fieldCode="DE" term="%22Magnetic+resonance+imaging%22">Magnetic resonance imaging</searchLink><br /><searchLink fieldCode="DE" term="%22Amyloid+beta-protein+precursor%22">Amyloid beta-protein precursor</searchLink><br /><searchLink fieldCode="DE" term="%22Brain+tomography%22">Brain tomography</searchLink><br /><searchLink fieldCode="DE" term="%22Diagnosis%22">Diagnosis</searchLink><br /><searchLink fieldCode="DE" term="%22Syndromes%22">Syndromes</searchLink>
– Name: Abstract
  Label: Abstract
  Group: Ab
  Data: Background: Small vessel disease (SVD), and most specifically hereditary forms like CADASIL and cerebral amyloid angiopathy (hCAA), are conditions of increasing clinical importance. We report a rare case of hCAA in a Greek family that presented with a CADASIL clinical and neuroimaging phenotype. Methods: A 65‐year‐old man was admitted with recurrent transient episodes of right leg numbness. The patient's medical history started at the age of 50 years with depression and behavioral disorders. His family history was positive for stroke (father), dementia (father and brother), migraine (daughter) and depression (father and daughter). Results: Neurological examination disclosed anomic aphasia with severely impaired cognitive status, and brisk reflexes. Brain computed tomography and magnetic resonance imaging showed CADASIL‐like leukoencephalopathy (hyperintense lesions in bilateral temporopolar area, external capsule, thalami, centrum semiovale and superior frontal regions) with occipital calcifications and cerebral microbleeds. Screen for variants in NOTCH3 gene was negative. Exome sequencing revealed a novel pathogenic mutation for hCAA. Conclusions: We report a novel amyloid precursor protein mutation which results in a CADASIL‐like clinical phenotype (progressive cognitive and motor decline, stroke, migraine and behavioral disorders) and CADASIL‐leukoencephalopathy coupled with occipital calcifications. Earlier recognition and swift hCAA diagnosis may prompt rational preventive and potential disease‐modifying interventions. [ABSTRACT FROM AUTHOR]
– Name: AbstractSuppliedCopyright
  Label:
  Group: Ab
  Data: <i>Copyright of European Journal of Neurology is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
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              M: 11
              Text: Nov2021
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