Skin Conditions and Movement Disorders: Hiding in Plain Sight

Kulcsarová, Kristína; Baloghová, Janette; Necpál, Ján; Škorvánek, Matej

doi:10.1002/mdc3.13436

Cited by 4 publications

(3 citation statements)

References 156 publications

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“…As AGEs act via the AGE receptor, RAGE, to increase NF-kB and pro-inflammatory signaling in the skin as in other body sites [194], the attenuated capacity to upregulate the mitochondrial melatonergic pathway in the T1DM skin will be important to determine. Skin disorders are common in other 'autoimmune'/'immune-mediated' disorders, including multiple sclerosis [195] and Parkinson's disease [196].…”

Section: Autoimmunity and Psychiatric Disordersmentioning

confidence: 99%

Redefining Autoimmune Disorders’ Pathoetiology: Implications for Mood and Psychotic Disorders’ Association with Neurodegenerative and Classical Autoimmune Disorders

Anderson¹,

Almulla

Reíter

et al. 2023

Cells

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Although previously restricted to a limited number of medical conditions, there is a growing appreciation that ‘autoimmune’ (or immune-mediated) processes are important aspects of a wide array of diverse medical conditions, including cancers, neurodegenerative diseases and psychiatric disorders. All of these classes of medical conditions are associated with alterations in mitochondrial function across an array of diverse cell types. Accumulating data indicate the presence of the mitochondrial melatonergic pathway in possibly all body cells, with important consequences for pathways crucial in driving CD8+ T cell and B-cell ‘autoimmune’-linked processes. Melatonin suppression coupled with the upregulation of oxidative stress suppress PTEN-induced kinase 1 (PINK1)/parkin-driven mitophagy, raising the levels of the major histocompatibility complex (MHC)-1, which underpins the chemoattraction of CD8+ T cells and the activation of antibody-producing B-cells. Many factors and processes closely associated with autoimmunity, including gut microbiome/permeability, circadian rhythms, aging, the aryl hydrocarbon receptor, brain-derived neurotrophic factor (BDNF) and its receptor tyrosine receptor kinase B (TrkB) all interact with the mitochondrial melatonergic pathway. A number of future research directions and novel treatment implications are indicated for this wide collection of poorly conceptualized and treated medical presentations. It is proposed that the etiology of many ‘autoimmune’/‘immune-mediated’ disorders should be conceptualized as significantly determined by mitochondrial dysregulation, with alterations in the mitochondrial melatonergic pathway being an important aspect of these pathoetiologies.

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Section: Autoimmunity and Psychiatric Disordersmentioning

confidence: 99%

Redefining Autoimmune Disorders’ Pathoetiology: Implications for Mood and Psychotic Disorders’ Association with Neurodegenerative and Classical Autoimmune Disorders

Anderson¹,

Almulla

Reíter

et al. 2023

Cells

View full text Add to dashboard Cite

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“…Individuals with less severe forms and longer survival may develop telangiectasia on the skin or conjunctiva and widespread angiokeratomas, mainly on the abdomen, buttocks, thighs, and external genitalia. Angiokeratomas are present in up to 50% of affected individuals, they often progress with age and their presence increases the probability of diagnosis [ 1 , 2 , 19 ].…”

Section: Introductionmentioning

confidence: 99%

Long-term outcomes in two adult siblings with Fucosidosis – Diagnostic odyssey and clinical manifestations

Puente-Ruiz,

Ellis,

Bregu

et al. 2023

Molecular Genetics and Metabolism Reports

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“…

Overlap between disorders manifesting with different skin conditions and movement disorders is gaining increased recognition in recent years. 1 Recently, Cordts et al 2 analyzed prevalence of bilallelic variants in genes of the nucleotide excision repair (NER) pathway in patients presenting primarily with neurological symptoms. In their study, 13 patients with variants in ERCC4 (n = 8), ERCC2 (n = 4), or XPA (n = 1) were identified, which represented 1.0% (n = 12/1206) of their subgroup of patients with ataxia, 3.5% (n = 12/340) of patients with dementia, and 8.6% (n = 12/139) of patients with both ataxia and dementia.

…”

mentioning

confidence: 99%

Adult‐Onset Neurodegeneration in Nucleotide Excision Repair Disorders: More Common than Expected

Škorvánek¹,

Baloghová²,

Kulcsarová³

et al. 2022

Movement Disorders

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Overlap between disorders manifesting with different skin conditions and movement disorders is gaining increased recognition in recent years. 1 Recently, Cordts et al. 2 analyzed prevalence of bilallelic variants in genes of the nucleotide excision repair (NER) pathway in patients presenting primarily with neurological symptoms. In their study, 13 patients with variants in ERCC4 (n = 8), ERCC2 (n = 4), or XPA (n = 1) were identified, which represented 1.0% (n = 12/1206) of their subgroup of patients with ataxia, 3.5% (n = 12/340) of patients with dementia, and 8.6% (n = 12/139) of patients with both ataxia and dementia. All individuals had adultonset progressive neurological deterioration with ataxia, dementia, and frequently chorea, neuropathy, and spasticity. Interestingly, none of these patients presented with skin cancer, and all manifested only minor skin abnormalities. The authors introduced a concept of a novel disease entity-adultonset neurodegeneration within the spectrum of autosomal recessive NER disorders (NERD ND s)-and suggest a novel modular classification system for subtypes of NERD.Here we report a 40-year-old man with a history of adultonset progressive chorea, ataxia, and cognitive impairment. At the age of 28 years he started feeling fatigued and having headaches; at age 33, he noticed mild generalized excessive movements that very slowly progressed, followed by stability problems and cognitive deterioration later on. He was able to work as an electrician until age 36. Objectively, at his first examination at age 38 he presented with mild generalized chorea including face and neck, combined with neocerebellar and paleocerebellar syndrome, cervical dystonia, dystonic posturing of his hands more pronounced on the left (see Supporting Information Video S1), and cognitive impairment, which currently presents his most prominent subjective complaint. His MRI showed a right-side occipital postischemic area, as well as rather marked supratentorial and infratentorial global brain atrophy, which clearly progressed over a 2-year follow-up period (Fig. 1A). In addition, he was

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Skin Conditions and Movement Disorders: Hiding in Plain Sight

Cited by 4 publications

References 156 publications

Redefining Autoimmune Disorders’ Pathoetiology: Implications for Mood and Psychotic Disorders’ Association with Neurodegenerative and Classical Autoimmune Disorders

Redefining Autoimmune Disorders’ Pathoetiology: Implications for Mood and Psychotic Disorders’ Association with Neurodegenerative and Classical Autoimmune Disorders

Long-term outcomes in two adult siblings with Fucosidosis – Diagnostic odyssey and clinical manifestations

Adult‐Onset Neurodegeneration in Nucleotide Excision Repair Disorders: More Common than Expected

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