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A cerebral amyloid angiopathy characterized by onset in the 4th to 6th decade of life, progressive mental deterioration, spasticity, muscular rigidity but no tremors, spontaneous movements or sensory changes that has material basis in an autosomal dominant mutation of ITM2B on chromosome 13q14.2.
Features include: Hypertonia, Progressive neurologic deterioration, Cerebral amyloid angiopathy, and Progressive loss of mental abilities (dementia) and 3 more.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 5 | Cerebral amyloid angiopathy, Progressive loss of mental abilities (dementia), Muscle stiffness (rigidity) |
ITM2B encodes integral membrane protein 2B (266 aa). Plays a regulatory role in the processing of the amyloid-beta A4 precursor protein (APP) and acts as an inhibitor of the amyloid-beta peptide aggregation and fibrils deposition. Highest expression in Ovary (241.1 TPM) and Whole Blood (208.7 TPM).
ABri amyloidosis is associated with mutations in the ITM2B gene on chromosome 13.
ITM2B is classified as a druggable target (Druggable Genome category) with score 0.0.
Genetic testing for ITM2B is available. Testing is considered confirmatory for diagnosis.
No clinical trials have been registered for ABri amyloidosis.
3 publications have been identified in PubMed for ABri amyloidosis. Research spans Basic Science / Preclinical (100%).
Choudhury A (2025). [PMID: 41354963](https://pubmed.ncbi.nlm.nih.gov/41354963/). *J Neuroinflammation*. [Basic Science / Preclinical]
Jury-Garfe N (2025). [PMID: 40346706](https://pubmed.ncbi.nlm.nih.gov/40346706/). *Alzheimers Dement*. [Basic Science / Preclinical]
Arber C (2024). [PMID: 39546024](https://pubmed.ncbi.nlm.nih.gov/39546024/). *Acta Neuropathol*. [Basic Science / Preclinical]
Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 11:54 AM UTC
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Common questions about ABri amyloidosis
AI-curated news mentioning ABri amyloidosis
Updated Jul 8, 2026
A new treatment for children aged 2 or older with sickle cell disease has been approved by the U.S. Food & Drug Administration. In a press release on Wednesday, the FDA announced it had approved Casgevy, the first gene therapy for children with sickle cell disease. (NewsNation) — A new treatment for children aged 2 or older with sickle cell disease has been approved by the Food & Drug Administration (FDA). In a Wednesday news release, the FDA announced it had approved Casgevy, the first gene therapy for children with the disease. “Casgevy is a gene therapy consisting of the patient’s own (autologous) hematopoietic (blood) stem cells, administered as a one-time single dose for intravenous infusion,” the release noted. “Pediatric patients as young as 2 years of age can now access a critical additional treatment option to treat these debilitating, life-threatening diseases,” Karim Mikhail, the acting director of the Center for Biologics Evaluation and Research, wrote. “These disorders carry a heavy burden for children and their families, affecting growth, development, and long-term health in profound ways,” Megha Kaushal, acting deputy director of the Office of Therapeutic Products in CBER, said in the release.