A multiple sclerosis-like disorder in patients with OPA1 mutations

Area of Science:

• Neuroscience
• Genetics
• Ophthalmology

Background:

• Multiple Sclerosis (MS) is a demyelinating disease of the central nervous system.
• Neuromyelitis Optica (NMO) is an autoimmune demyelinating disease.
• OPA1 mutations are typically associated with optic neuropathies and mitochondrial disorders.

Purpose of the Study:

• To report three unrelated patients with spinal cord syndrome and MS-like neuroimaging.
• To investigate the role of OPA1 mutations in these patients.
• To characterize the clinical and neuroimaging phenotype.

Main Methods:

• Clinical case series.
• Neuroimaging analysis (MRI).
• Genetic testing for OPA1 mutations.
• Serological testing for anti-aquaporin 4 antibodies.

Main Results:

• Three patients presented with spinal cord syndrome and MS-like brain/spinal cord lesions.
• All patients carried pathogenic OPA1 mutations.
• Neurological phenotype mimicked NMO but lacked NMO-specific antibodies and showed a slow progressive course.
• Optic neuropathy was present but generally mild with good visual prognosis.

Conclusions:

• OPA1 mutations can present with an MS-like phenotype, including spinal cord involvement.
• The co-occurrence of OPA1 mutations and MS-like pathology may modulate disease expression.
• This presentation differs from Harding disease (Leber hereditary optic neuropathy and MS), with a better visual outcome.