Recurrent Stroke-Like Symptoms After Cesarean Section Deliveries in a Female Patient With X-Linked Charcot-Marie-Tooth Type 1

Li, Qu; Chen, Chen; Ren, Yan; Liu, Xu

doi:10.3389/fneur.2020.00008

Cited by 4 publications

(6 citation statements)

References 20 publications

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“…Finally, we identified 47 cases from 38 articles that met the criteria of our systematic review. 11‐48 The gradual selection and exclusion process of the studies is shown in Figure 1.…”

Section: Resultsmentioning

confidence: 99%

“…Among patients with infectious factors, the possible mechanism is that the proinflammatory cytokines released during infection may lead to reduced gap junctions between oligodendrocytes and astrocytes 9 . Besides, we previously reported that a CMTX1 female, during the puerperium, developed recurrent stroke‐like symptoms at 3 weeks after a normal pregnancy and a smooth cesarean section 13 . It is hypothesized that during the puerperium, the sudden decrease in estrogen and progesterone levels would impede the proliferation and maturation of oligodendrocyte progenitor cells 66,67 .…”

Section: Discussionmentioning

confidence: 99%

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Systematic review of CMTX1 patients with episodic neurological dysfunction

Tian

Zhao

Zhu

et al. 2020

Ann Clin Transl Neurol

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ObjectiveX‐linked Charcot‐Marie‐Tooth type 1 (CMTX1) is an inherited peripheral neuropathy caused by mutations in the gap junction beta 1 (GJB1) gene, which encodes the connexin32 protein. A small number of patients with GJB1 mutations present with episodic neurological dysfunction and reversible white matter lesions, which has not been adequately reported. Here, we aim to enable clinicians to further understand this particular situation through systematically reviewing all published relevant cases.MethodsWe conducted a comprehensive search of the PubMed electronic database for medical literature relevant to CMTX1 patients with episodic neurological dysfunction and then fully analyzed the general information, clinical manifestations, and characteristics of magnetic resonance imaging (MRI), cerebrospinal fluid (CSF) analysis, and nerve conduction study (NCS).ResultsWe identified 47 cases of CMTX1 associated with episodic central nervous system (CNS) dysfunction from 38 publications. CMTX1 patients experienced episodic CNS deficits at a young age, ranging from infancy to 26 years, and 45 (95.7%) of them were male. The CNS symptoms manifested as facial, lingual, or limb weakness in 44 (93.6%), dysarthria or dysphagia in 39 (83.0%), facial or limb numbness in 15 (31.9%), and ataxia in 10 (21.3%) patients. The duration of episodic symptoms ranged from 3 minutes to 6 months. Thirty (63.8%) CMTX1 cases have reported obvious predisposing factors, among which the most common factors were infection or fever (27.7%), travel to high altitude (12.8%), and intensive exercise (8.5%). As for brain MRI, most abnormal signals were found in bilateral deep white matter (88.9%) and corpus callosum (80.0%). In addition, most of the NCS results were abnormal, including prolonged latency, reduced amplitude, and slowed conduction velocity. The motor nerve conduction velocity (MNCV) of median nerve was the most detectable and valuable, ranging from 25 to 45 m/s.InterpretationWe have reported the most comprehensive summary of the demographic and clinical profile from 47 CMTX1 patients with episodic CNS deficits and provided new insight into the phenotype spectrum of CMTX1. We hope that our study can help clinicians make early diagnosis and implement the best prevention and treatment strategies for CMTX1 patients with episodic CNS deficits.

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“…Finally, we identified 47 cases from 38 articles that met the criteria of our systematic review. 11‐48 The gradual selection and exclusion process of the studies is shown in Figure 1.…”

Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Systematic review of CMTX1 patients with episodic neurological dysfunction

Tian

Zhao

Zhu

et al. 2020

Ann Clin Transl Neurol

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“…One study examining APP , PSEN1 , PSEN2 , and MAPT in entorhinal cortex from 72 SAD and 58 non-AD controls found and validated three possibly damaging low-frequency SNVs: MAPT Q124K at a frequency of 1.1%, PSEN2 S130L at a frequency of 1.6%, and MAPT S735A at a frequency of 0.7% [ 67 ]. A recent study targeting PD-associated genes in SN, frontal lobe, cerebellum, and blood from synucleinopathies and controls did not detect somatic SNVs in PD-associated genes [ 177 ]. Two studies using high-resolution melting curve analysis of SNCA amplicons demonstrated no evidence for low-level mosaicism in the coding regions of SNCA across multiple brain regions in PD, MSA, and Lewy body dementia (LBD), another α-synucleinopathy.…”

Section: Somatic Single Nucleotide Variationsmentioning

confidence: 99%

“…), 1 familial PD, & 12 ND (4M:8F, 69–104 yo. ); postmortem SN Gene enrichment panel; ddPCR No disease-relevant SNVs detected Leija-Salazar et al, 2020 [ 177 ] RTT RTsp 4 A-T, 2 RT, 72 other, & 20 ND postmortem neural & non-neural tissue Whole-genome sequencing ↑ LINE1 copy number in RTT Jacob-Hirsch et al, 2018 [ 113 ] 5 RTT (5F, 17–21 yo.) & 5 ND (5F, 16–25 yo.)…”

Section: Table A1mentioning

confidence: 99%

Genomic Mosaicism Formed by Somatic Variation in the Aging and Diseased Brain

Costantino

Nicodemus

Chun

2021

Genes

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Over the past 20 years, analyses of single brain cell genomes have revealed that the brain is composed of cells with myriad distinct genomes: the brain is a genomic mosaic, generated by a host of DNA sequence-altering processes that occur somatically and do not affect the germline. As such, these sequence changes are not heritable. Some processes appear to occur during neurogenesis, when cells are mitotic, whereas others may also function in post-mitotic cells. Here, we review multiple forms of DNA sequence alterations that have now been documented: aneuploidies and aneusomies, smaller copy number variations (CNVs), somatic repeat expansions, retrotransposons, genomic cDNAs (gencDNAs) associated with somatic gene recombination (SGR), and single nucleotide variations (SNVs). A catch-all term of DNA content variation (DCV) has also been used to describe the overall phenomenon, which can include multiple forms within a single cell’s genome. A requisite step in the analyses of genomic mosaicism is ongoing technology development, which is also discussed. Genomic mosaicism alters one of the most stable biological molecules, DNA, which may have many repercussions, ranging from normal functions including effects of aging, to creating dysfunction that occurs in neurodegenerative and other brain diseases, most of which show sporadic presentation, unlinked to causal, heritable genes.

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“…(3) Although rare, this phenomenon in CMTX patients has been described previously. 3 A prior metabolic stress or infectious illness can trigger stroke-like symptoms with almost complete resolution in a few days. 4…”

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confidence: 99%