Iowa-type hereditary cerebral amyloid angiopathy in a Polish family

Iwanowski, Piotr; Kozubski, Wojciech; Losy, Jacek

doi:10.1016/j.jns.2015.06.020

Cited by 12 publications

(6 citation statements)

References 10 publications

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“…This can be complicated by severe CAA leading to recurrent cerebral hemorrhage. [34][35][36] The fact that our patient had evidence for CAA on his 7 T MRI supports the notion that the E665D APP variant is pathogenic. 37 The APP E665D variant is very conservative in terms of amino acid sequence and possibly structure, resulting in one less methylene group in the amino acid side chain, which otherwise still bears the carboxylic acid at its terminus.…”

Section: Discussionsupporting

confidence: 78%

See 1 more Smart Citation

Amyloid Precursor Protein Variant, E665D, Associated With Unique Clinical and Biomarker Phenotype

Abbatemarco

Jones

Larvie

et al. 2021

Am J Alzheimers Dis Other Demen

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We describe a clinical, imaging and biomarker phenotype associated with an amyloid precursor gene (APP) E665D variant in a 45-year-old man with progressive cognitive and behavioral dysfunction. Brain MRI showed bilateral, confluent T2 hyperintensities predominantly in the anterior white matter. Amyloid imaging and CSF testing were consistent with amyloid deposition. 7 Tesla MRI revealed cerebral microhemorrhages suggestive of cerebral amyloid angiopathy (CAA). Contrary to previous reports, this case raises the possibility that the APP E665D genetic change may be pathogenic, particularly given the abnormal Alzheimer’s disease biomarkers observed in the cerebrospinal fluid, positive amyloid imaging and imaging evidence for CAA in a relatively young patient with progressive cognitive decline.

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Section: Discussionsupporting

confidence: 78%

“…This can be complicated by severe CAA leading to recurrent cerebral hemorrhage. 34 - 36 The fact that our patient had evidence for CAA on his 7 T MRI supports the notion that the E665D APP variant is pathogenic. 37 …”

Section: Discussionsupporting

confidence: 74%

Amyloid Precursor Protein Variant, E665D, Associated With Unique Clinical and Biomarker Phenotype

Abbatemarco

Jones

Larvie

et al. 2021

Am J Alzheimers Dis Other Demen

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“…For example, HCHWA-Iowa type had been reported to always be associated with bilateral medial occipital "tram-like" calcification on head CT, but recently this was shown to not always be the case. 59 In one study, no amyloid precursor protein mutations were found in patients with sporadic CAA; thus, there is no evidence that patients without a relevant family history should be screened for HCHWA. 60 However, because HCHWA can also present with isolated cognitive impairment and leukoencephalopathy, clinicians may mistakenly believe a proband with ICH has no relevant family history.…”

Section: Hereditary Cerebral Hemorrhage With Amyloidosismentioning

confidence: 97%

Single Gene Causes of Stroke

Majersik

2017

Semin Neurol

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Though rare, monogenic causes of stroke are recognizable by key clinical and radiographic features. A lack of epidemiological data leaves their true incidence unknown, but the most common monogenetic causes of stroke are sickle cell disease, cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), Fabry's disease, and cerebral cavernous malformations. In this article, the author covers the epidemiology, clinical features, and treatment of those diseases as well as other well-described monogenic causes of ischemic and hemorrhagic stroke. A “shotgun” approach to genetic testing should be avoided in favor of targeted testing that can provide a higher yield. Neurologists caring for stroke patients should be familiar with these monogenic causes of stroke, as heightened awareness and an armamentarium of additional diagnostic techniques will allow neurologists to diagnose correctly, implement individual distinct treatment paradigms, and provide future risk assessment.

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“…The Iowa mutation at codon 694 within the Aβ region of APP results in substitution of an asparagine for aspartic acid (D694N) at Aβ position 23 [17] It was originally described in an Iowa family of Saxon German descent spanning three generations, and including 12 symptomatic individuals [18] A second family from Spain carrying the identical mutation was also described, and included four affected members [19] More recently seven individuals affected by early-onset ICH over three generations in a Polish family were identified as carrying the Iowa mutation [20] In all these families the initial presentation usually consisted of progressive cognitive decline, initially amnestic and later prominently involving aspects of language process and naming. No specific mention was made of prominent behavioral or neuropsychiatric symptoms in either family.…”

Section: Aβ-related Forms Of Hereditary (Familial Monogenic) Caamentioning

confidence: 99%

Main features of hereditary cerebral amyloid angiopathies: A systematic review

Biffi

2022

Cerebral Circulation - Cognition and Behavior

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Iowa-type hereditary cerebral amyloid angiopathy in a Polish family

Cited by 12 publications

References 10 publications

Amyloid Precursor Protein Variant, E665D, Associated With Unique Clinical and Biomarker Phenotype

Amyloid Precursor Protein Variant, E665D, Associated With Unique Clinical and Biomarker Phenotype

Single Gene Causes of Stroke

Main features of hereditary cerebral amyloid angiopathies: A systematic review

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