A rare syndrome mimicking scleroderma: Werner syndrome

B Okyar, S Akben, B Torun… - Modern Rheumatology …, 2023 - academic.oup.com
… to systemic sclerosis may be seen. Therefore, it may mimic this disease as misleading. A
43-year-old female patient was admitted to our clinic with a pre-diagnosis of systemic sclerosis

Adult progeria: a new mutation in the WRN gene

ML Rocha, AT Chicharo, G Sequeira… - BMJ Case Reports …, 2022 - casereports.bmj.com
Werner syndrome (WS) is a rare autosomal recessive inherited progeroid … Scleroderma-like
pattern can also be present in WS nailfold capillaroscopy as recently reported.21 A clinical …

A case of Myhre syndrome mimicking juvenile scleroderma

B Jensen, R James, Y Hong, E Omoyinmi… - Pediatric …, 2020 - Springer
… of scleroderma, and highlight the molecular pathways that can lead to pathological fibrosis.
This may provide clues to the pathogenesis of sporadic juvenile scleroderma, and could

Alterations of oligodendrocyte and myelin energy metabolism in multiple sclerosis

E López-Muguruza, C Matute - International Journal of Molecular …, 2023 - mdpi.com
… -relapsing MS may undergo transient energy deficits compromising their function (signal
transmission) and structure. Partial remyelination in shadow plaques may restore energy supply …

Chronic demyelination and axonal degeneration in multiple sclerosis: pathogenesis and therapeutic implications

TJ Simkins, GJ Duncan, D Bourdette - Current neurology and …, 2021 - Springer
… Multiple sclerosis (MS) is the most common demyelinating disease of the central nervous
system (CNS). Inflammatory attacks in MS lead to both demyelination and axonal damage. …

[HTML][HTML] New epidermal-growth-factor-related insights into the pathogenesis of multiple sclerosis: is it also epistemology?

G Scalabrino - Frontiers in neurology, 2021 - frontiersin.org
sclerosis (MS) because subacute combined degeneration is still considered in the differential
diagnosis of early MS (6–8); and some cases of late-onset CblC disease [a … levels is lost in …

Newly identified deficiencies in the multiple sclerosis central nervous system and their impact on the remyelination failure

G Scalabrino - Biomedicines, 2022 - mdpi.com
The pathogenesis of multiple sclerosis (MS) remains enigmatic and controversial. Myelin
sheaths in the central nervous system (CNS) insulate axons and allow saltatory nerve …

[HTML][HTML] Revisiting the pathoetiology of multiple sclerosis: has the tail been wagging the mouse?

MK Sen, MSM Almuslehi, PJ Shortland… - Frontiers in …, 2020 - frontiersin.org
… These lesions were accompanied by atrophy and discolouration that were termed “a peculiar
disease,” (1) but made no attribution to Multiple Sclerosis (MS). Twenty-eight years later, in …

CD8+ T Cell Senescence: Lights and Shadows in Viral Infections, Autoimmune Disorders and Cancer

V Tedeschi, G Paldino, M Kunkl, M Paroli… - International Journal of …, 2022 - mdpi.com
… effects on the clinical progression of the disease. A better characterization of the
phenotype as well as the functions of senescent CD8 + T cells can be pivotal to prevent age-related …

Cerebellar contribution to Cognitive Impairment in early stages of Relapsing-Remitting Multiple Sclerosis: a conventional and rs-fMRI study

A GUBBINI - thesis.unipd.it
Background. The cerebellum is a primary site of Multiple Sclerosis (MS) pathology. Structural
and functional MRI studies have demonstrated the role of the posterior cerebellum in …