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Multiple Sclerosis (MS) and Demyelinating Diseases of the Central Nervous System

“Multiple Sclerosis (MS) is the most common chronic inflammatory disease of the central nervous system. Demyelination, axonal degeneration, and gliosis are its hallmarks. Today, it affects approximately 2.8 million people worldwide, predominantly targeting young adults between 25 and 35 years of age. In Italy, the prevalence of the disease is about 115 cases per 100,000 inhabitants, with an estimated 126,000 affected individuals, and a total of approximately 2,000 new cases diagnosed each year.”

MS is a multifactorial disease in which environmental factors and genetic susceptibility factors interact to trigger an abnormal activation of immune system cells. These cells are mistakenly activated in the periphery, cross into the brain, and attack myelin through the secretion of inflammatory molecules. Alongside the peripheral activation of the immune system, resident immune cells within the CNS, such as microglia, are responsible for perpetuating chronic inflammation, which drives the progression of disability. Although it is not an inherited disease transmitted from parents to children, it is instead considered a polygenic disorder. Indeed, epidemiological studies have found a higher frequency of the condition among members of the same family, but the absolute incidence remains relatively low. For instance, children, brothers, or sisters of individuals with MS have a 3% to 5% higher risk of developing the disease compared to the general population.

The main symptoms of multiple sclerosis are extremely variable, as they depend on the differing possible locations of the plaques, and can affect:

  • Vision (blurring or double vision)

  • Sensory disturbances (tingling, numbness in the limbs, loss of tactile sensation, difficulty perceiving heat and cold)

  • Muscle weakness and fatigue (difficulty performing and sustaining even routine activities, loss of muscle strength)

  • Coordination problems (lack of balance, gait difficulties)

  • Sphincter problems (urinary urgency or incontinence)

  • Cognitive disorders (attention and memory deficits)

The main variants of MS include neuromyelitis optica spectrum disorders (NMOSD) and MOG antibody-associated diseases (MOGAD), both characterized by visual and spinal cord disturbances. Additionally, there is a predominantly monophasic form that is more frequent in childhood, called acute disseminated encephalomyelitis (ADEM).”

  • Clinical Evaluation: Medical history and a complete neurological examination, including specific scales to measure disability (EDSS) and cognitive tests.
  • Neuroimaging: Magnetic Resonance Imaging (MRI) of the brain and spinal cord, both with and without contrast medium, to detect and monitor the presence of demyelinating plaques (either active or inactive) and brain atrophy.
  • Biomarkers: Cerebrospinal fluid (CSF) analysis to detect the presence of oligoclonal bands, which are useful in establishing a diagnosis; testing for specific antibodies (anti-AQP4 and anti-MOG), which are essential for differential diagnosis.
  • Visual Evoked Potentials (VEP) and neuro-ophthalmological examination with Optical Coherence Tomography (OCT): Evaluation of the visual pathways and measurement of the retinal nerve fiber layer thickness.”

Available therapies

MS Disease-Modifying Therapies:

Alemtuzumab, Cladribine, Dimethyl fumarate, Fingolimod, Glatiramer acetate, Interferon beta-1a and 1-b, Natalizumab, Ocrelizumab, Ofatumumab, Ozanimod, Peginterferon beta-1a, Ponesimod, Siponimod, Teriflunomide, Ublituximab.

Symptomatic Therapies for:

    • Mood disorders: Antidepressants, anxiolytics, and psychological support.

    • Fatigue: E.g., Amantadine, Fampridine.

    • Neuropathic pain and sensory disturbances: E.g., Gabapentin, Duloxetine.

    • Sexual dysfunction: Phosphodiesterase-5 inhibitors and targeted therapies.

    • Urinary disorders: E.g., Tolterodine, Oxybutynin, Botulinum toxin.

    • Bowel disorders: Laxatives, stool softeners, and anti-motility agents.

    • Paroxysmal symptoms: Anticonvulsants (e.g., Carbamazepine).

    • Spasticity: E.g., Delta-9-tetrahydrocannabinol and Cannabidiol, Baclofen, Tizanidine.

    • Postural tremor: Beta-blockers, Primidone.

Research in progress

  • Identification of risk factors

  • Identification of novel biomarkers for early diagnosis and silent progression phases, utilizing neuroimaging or biological methodologies

  • Innovative therapies to counteract disease evolution, with a specific focus on neurodegeneration

Reference laboratory

Contacts and informations

Administrative Office: Marco Milianti
segreteria.neurodeg@policlinico.mi.it 0255038508

Links to scientific publications or useful resources:
Centro di riferimento per la ricerca e la cura della sclerosi multipla e la dispensazione di farmaci immunomodulanti