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ABeta amyloidosis, Iowa type

MedGen UID:
854855
Concept ID:
C3888309
Disease or Syndrome
Synonym: CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, IOWA VARIANT
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Monarch Initiative: MONDO:0017946
OMIM®: 104760; 605714
Orphanet: ORPHA324708

Definition

A form of hereditary cerebral hemorrhage with amyloidosis characterized by age of onset between 50-66 years of age, memory impairment, myoclonic jerks, expressive dysphagia, short-stepped gait, personality changes, and lobar intracerebral hemorrhages. This subtype is due to a mutation in the <i>APP</i> gene (21q21.2), encoding the beta-amyloid precursor protein. This mutation causes an increased accumulation of amyloid-beta protein in the walls of the arteries and capillaries of the meninges, cerebellar cortex and cerebral cortex, leading to the weakening and eventual rupture of these vessels. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVABeta amyloidosis, Iowa type

Recent clinical studies

Etiology

Clark AT, Abrahamson EE, Harper MM, Ikonomovic MD
Fluids Barriers CNS 2022 Jan 10;19(1):5. doi: 10.1186/s12987-021-00301-z. PMID: 35012589Free PMC Article

Diagnosis

Remes AM, Finnilä S, Mononen H, Tuominen H, Takalo R, Herva R, Majamaa K
Neurology 2004 Jul 27;63(2):234-40. doi: 10.1212/01.wnl.0000129988.68657.fa. PMID: 15277614

Clinical prediction guides

Clark AT, Abrahamson EE, Harper MM, Ikonomovic MD
Fluids Barriers CNS 2022 Jan 10;19(1):5. doi: 10.1186/s12987-021-00301-z. PMID: 35012589Free PMC Article
Cajamarca SA, Norris EH, van der Weerd L, Strickland S, Ahn HJ
Proc Natl Acad Sci U S A 2020 Jun 23;117(25):14482-14492. Epub 2020 Jun 9 doi: 10.1073/pnas.1921327117. PMID: 32518112Free PMC Article
Popescu DL, Van Nostrand WE, Robinson JK
Int J Mol Sci 2020 Mar 28;21(7) doi: 10.3390/ijms21072348. PMID: 32231123Free PMC Article
Hoos MD, Ahmed M, Smith SO, Van Nostrand WE
J Biol Chem 2007 Mar 30;282(13):9952-9961. Epub 2007 Jan 26 doi: 10.1074/jbc.M603494200. PMID: 17259179
Davis J, Xu F, Deane R, Romanov G, Previti ML, Zeigler K, Zlokovic BV, Van Nostrand WE
J Biol Chem 2004 May 7;279(19):20296-306. Epub 2004 Feb 25 doi: 10.1074/jbc.M312946200. PMID: 14985348

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