ABSTRACT
OBJECTIVE: To assess the usefulness of upper limb (UE) motor evoked potential (MEPs) as a marker of motor impairment in a cohort of people with progressive multiple sclerosis (PwPMS). METHODS: we evaluated UE and lower extremities (LE) MEPs, 6-minutes walk-test (6MWT), 10-meter walk-test (10MWT), EDSS, 9-hole peg-test (9HPT), and measures of strength (MRC) and tone (MAS) to the UE and LE in 50 PwPMS (EDSS 4.0-6.5; P ≥ 3, C ≤ 2). RESULTS: Bilateral absence of LE-MEPs, found in 74% of cases, was associated with worse 10MWT and 6MWT. UE-MEPs were rarely absent (8%) but often delayed (74%). Abnormal UE-MEPs were associated with worse performance at 9HPT (25.8 vs 33.2 s). UE-MEPs latency correlated with 10MWT (rho = 0.597), 6MWT (rho = -0.425) and EDSS (rho = 0.296). CONCLUSION: UE-MEPs may represent a clinically relevant outcome measure to quantify corticospinal tract integrity in PwPMS, at least when LE-MEPs cannot provide a measurable response. SIGNIFICANCE: The strive for novel remyelination strategies in MS points to the need for quantitative conduction measurements in addition to clinical outcomes. The frequent absence of MEPs to the lower limbs in PwPMS may greatly limits their usefulness in monitoring progression or response to therapies. With this respect, the upper extremities may represent a better target.
Subject(s)
Electromyography/methods , Evoked Potentials, Motor , Multiple Sclerosis/diagnosis , Adult , Arm/physiopathology , Electromyography/standards , Female , Humans , Male , Middle Aged , Multiple Sclerosis/physiopathology , Multiple Sclerosis/therapy , Reaction Time , Treatment OutcomeABSTRACT
The coexistence of multiple sclerosis (MS) and neuromyelitis optica spectrum disorder (NMOSD) in the same family is a rare event. We report a familial case originating from Sardinia of two siblings: one with NMOSD and one with MS. Human leukocyte antigen (HLA) typing showed that the two affected siblings were HLA-identical, sharing risk-increasing alleles, while a younger unaffected sister was haploidentical to her siblings but she also carried protective alleles. Our findings confirm the role of HLA in raising the risk to develop CNS inflammatory diseases and provide further knowledge on the relationship between NMOSD and MS.
Subject(s)
Family Health , Multiple Sclerosis , Neuromyelitis Optica , Adult , Brain/diagnostic imaging , Electroencephalography , Evoked Potentials, Visual/genetics , Female , Histocompatibility Antigens Class I/genetics , Humans , Italy/epidemiology , Multiple Sclerosis/diagnostic imaging , Multiple Sclerosis/genetics , Multiple Sclerosis/physiopathology , Mutation/genetics , Neuromyelitis Optica/diagnostic imaging , Neuromyelitis Optica/genetics , Neuromyelitis Optica/physiopathology , Spinal Cord/diagnostic imagingABSTRACT
BACKGROUND: No reliable indicators of the transition to the progressive course in multiple sclerosis (MS) have been identified so far. The main clinical feature of the progressive phase of MS is usually impairment of walking. Magnetic resonance imaging and optical coherence tomography have emerged recently as promising tools to assess increasing neurodegeneration and axonal loss in disease progression in MS. RESULTS: We report a case of progressive visual impairment as the dominant symptom in the transition to secondary progressive MS. CONCLUSIONS: Impairment of vision, together with walking and cognition, should be considered to better define the transition from relapsing/remitting to secondary-progressive MS.
