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ITM2B amyloidosis

MedGen UID:: 82800
•Concept ID:: C0268393
•: Disease or Syndrome

Synonyms:	Autosomal Dominant Cerebrovascular Amyloidosis; Cerebral Amyloid Angiopathy, Familial; Familial Cerebral Amyloid Angiopathy; HCHWA
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. Autosomal dominant inheritance (Orphanet)

Monarch Initiative:	MONDO:0018591
Orphanet:	ORPHA439254

Definition

A rare, neurodegenerative disease characterized by progressive dementia and ataxia, widespread cerebral amyloid angiopathy and parenchymal amyloid deposition. Two subtypes have been identified, ABri amyloidosis and ADan amyloidosis. [from ORDO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVITM2B amyloidosis

Phenotypic abnormality
- Abnormality of metabolism/homeostasis
  - Amyloidosis
    - ITM2B amyloidosis
      - ABri amyloidosis
      - ADan amyloidosis

Recent clinical studies

Etiology

A1 reactive astrocytes and a loss of TREM2 are associated with an early stage of pathology in a mouse model of cerebral amyloid angiopathy.

Taylor X, Cisternas P, You Y, You Y, Xiang S, Marambio Y, Zhang J, Vidal R, Lasagna-Reeves CA
J Neuroinflammation 2020 Jul 25;17(1):223. doi: 10.1186/s12974-020-01900-7. PMID: 32711525 Free PMC Article

Newly designed 11-gene panel reveals first case of hereditary amyloidosis captured by massive parallel sequencing.

Chyra Kufova Z, Sevcikova T, Januska J, Vojta P, Boday A, Vanickova P, Filipova J, Growkova K, Jelinek T, Hajduch M, Hajek R
J Clin Pathol 2018 Aug;71(8):687-694. Epub 2018 Feb 17 doi: 10.1136/jclinpath-2017-204978. PMID: 29455155 Free PMC Article

Familial British dementia with amyloid angiopathy: early clinical, neuropsychological and imaging findings.

Mead S, James-Galton M, Revesz T, Doshi RB, Harwood G, Pan EL, Ghiso J, Frangione B, Plant G
Brain 2000 May;123 ( Pt 5):975-91. doi: 10.1093/brain/123.5.975. PMID: 10775542

See all (3)

Diagnosis

Clinical considerations in early-onset cerebral amyloid angiopathy.

Banerjee G, Collinge J, Fox NC, Lashley T, Mead S, Schott JM, Werring DJ, Ryan NS
Brain 2023 Oct 3;146(10):3991-4014. doi: 10.1093/brain/awad193. PMID: 37280119 Free PMC Article

Newly designed 11-gene panel reveals first case of hereditary amyloidosis captured by massive parallel sequencing.

Hereditary dementia with intracerebral hemorrhages and cerebral amyloid angiopathy.

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

Familial British dementia with amyloid angiopathy: early clinical, neuropsychological and imaging findings.

Mead S, James-Galton M, Revesz T, Doshi RB, Harwood G, Pan EL, Ghiso J, Frangione B, Plant G
Brain 2000 May;123 ( Pt 5):975-91. doi: 10.1093/brain/123.5.975. PMID: 10775542

See all (4)

Therapy

The BRICHOS domain, amyloid fibril formation, and their relationship.

Knight SD, Presto J, Linse S, Johansson J
Biochemistry 2013 Oct 29;52(43):7523-31. Epub 2013 Oct 17 doi: 10.1021/bi400908x. PMID: 24099305

pH-dependent amyloid and protofibril formation by the ABri peptide of familial British dementia.

Srinivasan R, Jones EM, Liu K, Ghiso J, Marchant RE, Zagorski MG
J Mol Biol 2003 Nov 7;333(5):1003-23. doi: 10.1016/j.jmb.2003.09.001. PMID: 14583196

See all (2)

Prognosis

Newly designed 11-gene panel reveals first case of hereditary amyloidosis captured by massive parallel sequencing.

See all (1)

Clinical prediction guides

Chemical traits of cerebral amyloid angiopathy in familial British-, Danish-, and non-Alzheimer's dementias.

Michno W, Koutarapu S, Camacho R, Toomey C, Stringer K, Minta K, Ge J, Jha D, Fernandez-Rodriguez J, Brinkmalm G, Zetterberg H, Blennow K, Ryan NS, Lashley T, Hanrieder J
J Neurochem 2022 Nov;163(3):233-246. Epub 2022 Sep 25 doi: 10.1111/jnc.15694. PMID: 36102248 Free PMC Article

A1 reactive astrocytes and a loss of TREM2 are associated with an early stage of pathology in a mouse model of cerebral amyloid angiopathy.

Newly designed 11-gene panel reveals first case of hereditary amyloidosis captured by massive parallel sequencing.

The BRICHOS domain, amyloid fibril formation, and their relationship.

Knight SD, Presto J, Linse S, Johansson J
Biochemistry 2013 Oct 29;52(43):7523-31. Epub 2013 Oct 17 doi: 10.1021/bi400908x. PMID: 24099305

Modeling familial British dementia in transgenic mice.

Pickford F, Coomaraswamy J, Jucker M, McGowan E
Brain Pathol 2006 Jan;16(1):80-5. doi: 10.1111/j.1750-3639.2006.tb00564.x. PMID: 16612985 Free PMC Article

See all (6)

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ITM2B amyloidosis

Definition

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Clinical resources

Consumer resources

Reviews

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