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Cognitive Decline, Neurologic Involvement, and Neonatal Crisis in ABCC9-Related Intellectual Disability and Myopathy
Vini Nagaraj1, Quentin Hugo Thomas2, Paulo Ribeiro Nóbrega3
1The Center for Advanced Biotechnology and Medicine, and the Departments of Pharmacology and Medicine, Robert Wood Johnson Medical School, Rutgers, The State University of New Jersey, Piscataway.
Neurology. Genetics
|June 15, 2026
Summary
ABCC9-related Intellectual Disability and Myopathy Syndrome (AIMS) is caused by ABCC9 gene variants. New cases reveal white matter abnormalities, developmental delay, intellectual disability, and muscle weakness, highlighting neonatal presentation and potential decline in older individuals.
Area of Science:
- Genetics and Molecular Biology
- Neurology
- Cardiology
Background:
- The ABCC9 gene encodes the SUR2 subunit of ATP-sensitive potassium (KATP) channels.
- Autosomal recessive loss-of-function variants in ABCC9 cause ABCC9-related Intellectual Disability and Myopathy Syndrome (AIMS).
Purpose of the Study:
- To compile case reports of previously unidentified individuals with ABCC9 variants.
- To further establish the clinical consequences and natural history of ABCC9 variants.
Main Methods:
- Combined multiple case reports with genetic diagnoses.
- Performed functional tests on recombinant KATP channels.
Main Results:
- Reported 5 cases of AIMS, including a neonate and a sexagenarian with dementia.
- Disease-associated SUR2 truncations confirmed to cause complete loss-of-function.
- Key hallmarks include white matter abnormalities, developmental delay, intellectual impairment, seizures, and fatigability.
Conclusions:
- AIMS is characterized by periventricular leukomalacia, developmental delay, intellectual disability, and muscle weakness/fatigability.
- The syndrome is driven by biallelic loss-of-function variants in the ABCC9 gene.
- Highlights neonatal presentation, postsurgical deterioration, and potential for motor/cognitive decline.
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