Cerebral Amyloid Angiopathy with Lobar Haemorrhages and CAA-Related Inflammation in an Indian Family

Introduction: Cerebral amyloid angiopathy (CAA) is a common cause of lobar intracerebral haemorrhage. Sporadic CAA is far more common than hereditary CAA (h-CAA). Familial CAA has not yet been described from India. Case Report: Two elderly Indian women (a mother and daughter) presented 7 years apart with features of CAA. The mother had presented with features of CAA-related inflammation that responded to steroids, whereas the daughter presented with features of CAA-related intracerebral haemorrhage. Clinical exome testing did not reveal any known genetic variants associated with h-CAA. Discussion: Although clinical exome testing was inconclusive, the presentation of CAA in two generations (mother and daughter) in their 8th and 7th decades, respectively, raises the possibility of a familial CAA rather than a sporadic CAA in this Indian family. Genome-wide association studies are necessary to reveal if an Indian variant of familial CAA exists. We compare and contrast our familial CAA with the described h-CAA variants in the literature.

Location
Deutsche Nationalbibliothek Frankfurt am Main
Extent
Online-Ressource
Language
Englisch

Bibliographic citation
Cerebral Amyloid Angiopathy with Lobar Haemorrhages and CAA-Related Inflammation in an Indian Family ; volume:12 ; number:1 ; year:2022 ; pages:23-27 ; extent:5
Cerebrovascular diseases / Extra. Extra ; 12, Heft 1 (2022), 23-27 (gesamt 5)

Creator
Maramattom, Boby Varkey

DOI
10.1159/000522214
URN
urn:nbn:de:101:1-2022051200274947119277
Rights
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
Last update
15.08.2025, 7:30 AM CEST

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  • Maramattom, Boby Varkey

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