Cortical Pathology in RRMS: Taking a Cue from Four Sisters

Area of Science:

• Neuroimmunology
• Neurodegeneration
• Magnetic Resonance Imaging

Background:

• Grey matter pathology significantly impacts physical and cognitive functions in multiple sclerosis (MS).
• The specific differences in cortical pathology between familial and sporadic MS remain unclear.
• Cortical involvement is a key aspect of MS pathogenesis, influencing disease progression and symptoms.

Purpose of the Study:

• To investigate potential differences in cortical pathology between familial and sporadic cases of multiple sclerosis.
• To compare grey matter MRI parameters in sisters with MS to healthy controls and sporadic MS patients.

Main Methods:

• A multiple case report of four sisters with MS was analyzed.
• Grey matter MRI parameters, including cortical thickness and cortical lesion (CL) load, were assessed.
• Patients were compared to age-matched healthy women and women with sporadic MS.

Main Results:

• Sisters with MS demonstrated significant cortical thinning compared to both healthy controls and sporadic MS patients.
• The familial MS group exhibited a higher number and volume of cortical lesions than the sporadic MS group.
• These findings were observed despite a short disease duration (<5 years) in the sisters.

Conclusions:

• Familial factors may contribute to a distinct pattern of cortical involvement in multiple sclerosis.
• This observation warrants further investigation in larger cohorts of multiplex MS families.
• Understanding genetic influences on MS cortical pathology could refine diagnostic and therapeutic strategies.