Teaching NeuroImage: Glutaredoxin-5–Associated Variant Nonketotic Hyperglycinemia

Roy Chowdhury, Sayoni; Mittal, Rekha; Yadav, Richa; Guglany, Vinay

doi:10.1212/wnl.0000000000208105

Cited by 2 publications

(1 citation statement)

References 2 publications

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“…Unlike most ADEM cases that recover after immunotherapy, such outcomes are rare in patients with IBA57 mutations. Additionally, cavitating leukoencephalopathies caused by other genes also require differential diagnosis [24][25][26]. Thus, timely genetic screening is essential to determine the etiology and avoid unnecessary immunosuppressive treatments.…”

Section: Multiple Mitochondrial Dysfunctions Syndromementioning

confidence: 99%

Phenotypic spectrum of iron-sulfur cluster assembly gene IBA57 mutations: c.286T>C identified as a hotspot mutation in Chinese patients with a stable natural history

Jiang,

Xu,

Duan

et al. 2024

Preprint

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Mutations in IBA57 disrupt iron-sulfur clusters maturation, causing a rare mitochondrial disease. Clinical manifestations vary from neonatal lethality to childhood-onset spastic paraparesis, yet the ethnic heterogeneity and natural history remain unclear, necessitating further exploration. This study aimed to delineate the genotype-phenotype correlation of IBA57 mutations by analyzing diverse clinical presentations. We report 11 Chinese patients and include literature-reported cases, totaling 61 patients enrolled for analysis. Clinical, neuroimaging, genetic and disease progression information were collected. Among these, 46 presented as multiple mitochondrial dysfunctions syndrome 3 (MMDS3), with 58.7% originating from Chinese population. Based on disease course, we propose three clinical subtypes: neonatal, infant and childhood subtypes. Neonatal cases universally displayed hypotonia and respiratory distress at presentation, deceased within three months. Most infancy and childhood cases exhibited developmental regression and impaired motor function. Cavitating leukoencephalopathy was a typical neuroimaging finding in MMDS3 patients. The c.286T > C mutation was reported in 85.2% of Chinese patients. A significantly lower mortality rate was observed compared to the non-Chinese group (P = 0.002), with a survival rate exceeding 90% at 5 years, indicating a relatively stable disease progression. Fifteen cases from three families manifested the spastic paraplegia 74 phenotype, demonstrating normal development before onset, with common clinical manifestations including spastic paraplegia (14/15), visual impairment (10/13), and peripheral neuropathy (9/13). Conclusion: Despite a diverse phenotypic spectrum, neonatal-onset cases exhibit severe symptoms and a poor prognosis. More than half of the patients were Chinese, and c.286T > C variant was a hotspot mutation in Chinese population, associated with a stable natural history.

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Section: Multiple Mitochondrial Dysfunctions Syndromementioning

confidence: 99%

Phenotypic spectrum of iron-sulfur cluster assembly gene IBA57 mutations: c.286T>C identified as a hotspot mutation in Chinese patients with a stable natural history

Jiang,

Xu,

Duan

et al. 2024

Preprint

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Epigenome-Wide Association Study of Depressive Symptoms in Black Women in the InterGEN Study

Taylor,

Zhao,

Perez

et al. 2024

IJMS

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(1) The prevalence of depression is two times higher in women than men. Black women have an increased risk of depression due to stressors such as low socioeconomic status and perceived discrimination. Depression is likely influenced by both genetic and environmental factors. Psychosocial stressors can influence DNA methylation (DNAm), leading to changes in gene expression and ultimately, depression. The objective of this study was to examine associations between DNAm and depressive symptoms in Black women. (2) This study was a secondary analysis of data from the Intergenerational Impact of Genetic and Psychological Factors on Blood Pressure (InterGEN) Study. Perceived discrimination was assessed using Krieger’s Experiences of Discrimination and Waelde’s Race-Related Events Scale, and participants were screened for depressive symptoms with the Beck Depression Inventory. Raw data from saliva samples were analyzed using the Illumina Infinium Epic (850 K) BeadChip and then preprocessed in RStudio. (3) Differential methylation analysis identified DNAm sites and regions associated with depressive symptoms. Six DNAm sites had a q-value less than 0.05. Additionally, of the 25 regions identified, 12 were associated with neurological diseases or disorders. (4) These findings suggest that there is a neurological component to depression, which should be considered during treatment.

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Teaching NeuroImage: Glutaredoxin-5–Associated Variant Nonketotic Hyperglycinemia

Cited by 2 publications

References 2 publications

Phenotypic spectrum of iron-sulfur cluster assembly gene IBA57 mutations: c.286T>C identified as a hotspot mutation in Chinese patients with a stable natural history

Phenotypic spectrum of iron-sulfur cluster assembly gene IBA57 mutations: c.286T>C identified as a hotspot mutation in Chinese patients with a stable natural history

Epigenome-Wide Association Study of Depressive Symptoms in Black Women in the InterGEN Study

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Teaching NeuroImage: Glutaredoxin-5–Associated Variant Nonketotic Hyperglycinemia

Cited by 2 publications

References 2 publications

Phenotypic spectrum of iron-sulfur cluster assembly gene IBA57 mutations: c.286T&gt;C identified as a hotspot mutation in Chinese patients with a stable natural history

Phenotypic spectrum of iron-sulfur cluster assembly gene IBA57 mutations: c.286T&gt;C identified as a hotspot mutation in Chinese patients with a stable natural history

Epigenome-Wide Association Study of Depressive Symptoms in Black Women in the InterGEN Study

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Phenotypic spectrum of iron-sulfur cluster assembly gene IBA57 mutations: c.286T>C identified as a hotspot mutation in Chinese patients with a stable natural history

Phenotypic spectrum of iron-sulfur cluster assembly gene IBA57 mutations: c.286T>C identified as a hotspot mutation in Chinese patients with a stable natural history