A rare case of SPG11 mutation with multiple sclerosis

Area of Science:

• Neurology
• Genetics
• Immunology

Background:

• Hereditary spastic paraplegia (HSP) is a group of inherited neurological disorders.
• SPG11 is a common genetic cause of HSP, characterized by progressive lower limb spasticity and weakness.
• Multiple sclerosis (MS) is a chronic inflammatory disease of the central nervous system.

Observation:

• A patient with genetically confirmed SPG11 HSP presented with recurrent subacute gait deterioration.
• Neuroimaging revealed inflammatory lesions in the brain and spinal cord.
• Cerebrospinal fluid analysis was unremarkable for typical MS inflammatory markers.

Findings:

• The patient showed a dramatic clinical response to intravenous methylprednisolone treatment.
• The clinical presentation and MRI findings raised suspicion for co-existing relapsing-remitting MS.
• This case represents the first reported association between SPG11 HSP and MS.

Implications:

• This case highlights the importance of considering inflammatory demyelinating diseases in patients with SPG11 HSP presenting with atypical neurological episodes.
• The findings suggest a potential overlap or interaction between genetic HSP and autoimmune neurological conditions.
• Further research is warranted to explore the pathomechanisms underlying this association and its diagnostic and therapeutic implications.