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ACOX1 Gain-of-Function Variant in Two German Pediatric Patients, in One Case Mimicking Autoimmune Inflammatory Disease

NEUROPEDIATRICS (2023)

Child Neurology: Neurodegenerative Encephalomyelopathy Associated With ACOX1 Gain-of-Function Variation Partially Responsive to Immunotherapy

Saba Jafarpour et al.

Summary: This case reports a rare Acox1 gene variation and highlights the importance of reanalysis of previously undiagnosed genetic sequencing data. The patient's clinical stability for over 1 year on immunotherapy raises the possibility of disease modification in an otherwise universally fatal condition.

NEUROLOGY (2022)

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Article Clinical Neurology

Myelin-oligodendrocyte glycoprotein antibody-associated disease

Romain Marignier et al.

Summary: MOGAD is a recently identified autoimmune disorder characterized by CNS demyelination, distinct from multiple sclerosis and NMOSD. Diagnosis involves testing for anti-MOG antibodies and treatment is based on standard protocols for related conditions, with further evidence needed for optimal management strategies.

LANCET NEUROLOGY (2021)

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Article Neurosciences

Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms

Hyung-lok Chung et al.

NEURON (2020)

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Article Genetics & Heredity

Clinical, biochemical, and mutational spectrum of peroxisomal acyl-coenzyme a oxidase deficiency

Sacha Ferdinandusse et al.

HUMAN MUTATION (2007)

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ACOX1 Gain-of-Function Variant in Two German Pediatric Patients, in One Case Mimicking Autoimmune Inflammatory Disease

相关参考文献

Child Neurology: Neurodegenerative Encephalomyelopathy Associated With ACOX1 Gain-of-Function Variation Partially Responsive to Immunotherapy

Myelin-oligodendrocyte glycoprotein antibody-associated disease

Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms

Clinical, biochemical, and mutational spectrum of peroxisomal acyl-coenzyme a oxidase deficiency

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