An Aicardi-Goutières syndrome associated with a quasi-Moyamoya by a biallelic mutation in SAMHD1

Barrit, S

doi:10.30637/2018.16-030

Cited by 5 publications

(10 citation statements)

References 20 publications

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“…20 The incidence of AGS-5 is rare, and different allelic variants of the SAMHD1 gene have been identified. [7][8][9]11,15,16,21,22 Common clinical manifestations are progressive neurological dysfunction, poor feeding, and irritability. 22 Our case had arterial vasculopathy confirmed by MRI on the eleventh day after birth.…”

Section: Discussionmentioning

confidence: 99%

“…In the literature review on arteriopathy in AGS, we identified 12 cases described by five authors. [7][8][9][10][11] The blood relation was not encountered in nine individuals, consanguinity was observed in two children, and the third patient with possible consanguinity was born to Old Order Amish parents. Seven patients were female.…”

Section: Additional Cases and Literature Reviewmentioning

confidence: 99%

“…Reviewing the available literature, we identified twelve more individuals with arteriopathy in AGS. [7][8][9][10][11]…”

Section: Introductionmentioning

confidence: 99%

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Early arteriopathy in Aicardi–Goutières syndrome 5. Case report and review of literature

Marković

Jocić-Jakubi

Milenković³

2023

Neuroradiol J

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Aicardi–Goutières syndrome (AGS) is an autosomal recessive disease that mimics congenital viral infection and mainly affects the brain, immune system, and skin. The dominant clinical symptom is the subacute onset of severe encephalopathy, which manifests as irritability, loss of ability, slowing of head growth, and poor nutrition. Arteriopathy in AGS is an uncommon manifestation usually associated with mutations in the SAMHD1 gene. We present a rare case of a 3-year-old male due to failure to thrive, global developmental delay, microcephaly, poor vision, upper and lower limbs spasticity, and gastroesophageal reflux disease (GERD), who harbored early stenotic lesions of the large and medium intracranial arteries with ischemic sequelae in the early postnatal life. Performed genetic testing confirmed homozygous gene mutation, SAMHD1 associated with AGS type 5. By reviewing the available literature, we were able to find only one patient whose arterial lesions were diagnosed after 6 months.

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Section: Discussionmentioning

confidence: 99%

Section: Additional Cases and Literature Reviewmentioning

confidence: 99%

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Early arteriopathy in Aicardi–Goutières syndrome 5. Case report and review of literature

Marković

Jocić-Jakubi

Milenković³

2023

Neuroradiol J

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“…The authors suggested that MMD might be a mitochondria-related disease [72]. There are other well-known vasculopathies that are caused by impaired nucleotide processing, such as Aicardi-Goutières syndrome that is caused by mutations in the ribonuclease RNASEH2, the exonuclease TREX1, or the deoxynucleoside triphosphate triphosphohydrolase SAMHD1 [73][74][75], or such as SLE that is triggered by autoimmune responses to toxic DNA or also to mtRNA [76][77][78][79]. It is therefore conceivable that they share pathogenetic mechanisms with MMD, which may have to be classified among them.…”

Section: Discussionmentioning

confidence: 99%

Loss of mitochondrial ClpP, Lonp1, and Tfam triggers transcriptional induction of Rnf213, a susceptibility factor for moyamoya disease

et al. 2020

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Human RNF213, which encodes the protein mysterin, is a known susceptibility gene for moyamoya disease (MMD), a cerebrovascular condition with occlusive lesions and compensatory angiogenesis. Mysterin mutations, together with exposure to environmental trigger factors, lead to an elevated stroke risk since childhood. Mysterin is induced during cell stress, to function as cytosolic AAA+ ATPase and ubiquitylation enzyme. Little knowledge exists, in which context mysterin is needed. Here, we found that genetic ablation of several mitochondrial matrix factors, such as the peptidase ClpP, the transcription factor Tfam, as well as the peptidase and AAA+ ATPase Lonp1, potently induces Rnf213 transcript expression in various organs, in parallel with other components of the innate immune system. Mostly in mouse fibroblasts and human endothelial cells, the Rnf213 levels showed prominent upregulation upon Poly(I:C)-triggered TLR3-mediated responses to dsRNA toxicity, as well as upon interferon gamma treatment. Only partial suppression of Rnf213 induction was achieved by C16 as an antagonist of PKR (dsRNA-dependent protein kinase). Since dysfunctional mitochondria were recently reported to release immune-stimulatory dsRNA into the cytosol, our results suggest that mysterin becomes relevant when mitochondrial dysfunction or infections have triggered RNA-dependent inflammation. Thus, MMD has similarities with vasculopathies that involve altered nucleotide processing, such as Aicardi-Goutières syndrome or systemic lupus erythematosus. Furthermore, in MMD, the low penetrance of RNF213 mutations might be modified by dysfunctions in mitochondria or the TLR3 pathway.

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“…A few cases of moyamoya have been reported in patients with Turner’s syndrome [ 94 , 193 ]. In our literature search, we found one case of moyamoya with Aicardi Goutieres syndrome [ 194 ].…”

Section: Reviewmentioning

confidence: 99%

Western Moyamoya Phenotype: A Scoping Review

Miller¹,

Unda²,

Holland³

et al. 2021

Cureus

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Moyamoya, a rare angiographic finding, is characterized by chronic and progressive stenosis at the terminal end of the internal carotid artery, followed by collateralization of the cerebral vasculature at the base of the skull. Coined by Suzuki and Takaku in 1969, the term “moyamoya” means a “puff of smoke” in Japanese, a reference to the angiographic appearance of moyamoya collateralization. Moyamoya is most commonly found in East Asian countries, where much governmental and civilian effort has been expended to characterize this unique disease process. However, despite its rarity, the occurrence of moyamoya in Western countries is associated with significant divergence regarding incidence, gender, sex, age at diagnosis, clinical presentation, and outcomes. Here, we attempted to review the Western literature on moyamoya presentation using the PubMed database to characterize the Western phenotype of moyamoya. We were guided by the Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for scoping reviews (PRISMA-ScR). We reviewed papers generated from a search with keywords “moyamoya case report,” those reported from a Western institution, and those reported on a relevant association. Our scoping review demonstrated various clinical associations with moyamoya. Moreover, we summarized the demographic profile and clinical symptomatology, as well as reported disease associations to better elucidate the Western phenotype of moyamoya.

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An Aicardi-Goutières syndrome associated with a quasi-Moyamoya by a biallelic mutation in SAMHD1

Cited by 5 publications

References 20 publications

Early arteriopathy in Aicardi–Goutières syndrome 5. Case report and review of literature

Early arteriopathy in Aicardi–Goutières syndrome 5. Case report and review of literature

Loss of mitochondrial ClpP, Lonp1, and Tfam triggers transcriptional induction of Rnf213, a susceptibility factor for moyamoya disease

Western Moyamoya Phenotype: A Scoping Review

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