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Identification of m.3243A & gt;G mitochondrial DNA mutation in patients with cerebellar ataxia
CONCLUSION: Mitochondrial m.3243A>G mutation accounted for 0.9% (2/232) of genetically-undetermined cerebellar ataxia in the Han Chinese cohort in Taiwan. These findings highlight the importance of investigating m.3243A>G in patients with genetically-undetermined cerebellar ataxia.PMID:37311680 | DOI:10.1016/j.jfma.2023.05.031
Source: J Formos Med Assoc - June 13, 2023 Category: General Medicine Authors: Nai-Yi Liao Kuan-Lin Lai Yi-Chu Liao Cheng-Tsung Hsiao Yi-Chung Lee Source Type: research

Posterior circulation stroke due to intracranial artery disease in the Chinese population
ConclusionsPCS due to INVAD was more common in the Chinese population. However, PCS due to IVAD had more serious clinical-radiologic patterns and worse outcomes.
Source: Brain and Behavior - August 18, 2022 Category: Neurology Authors: Changqing Zhang, Zixiao Li, Liping Liu, Yuehua Pu, Xinying Zou, Hongyi Yan, Yuesong Pan, Xingquan Zhao, Yilong Wang, Yongjun Wang Tags: ORIGINAL ARTICLE Source Type: research

Heteroplasmy and phenotype spectrum of the mitochondrial tRNALeu (UUR) gene m.3243A > G mutation in seven Han Chinese families
The m.3243A  > G mutation in the mitochondrial tRNALeu (UUR) gene is associated with a variety of phenotypic heterogeneity. The clinical spectrum and phenotypic-genotypic correlations in the Chinese patients are poorly understood. In the present study, we reported the clinical and genetic characterization, as w ell as haplogroups of seven Han Chinese families carrying the m.3243A > G mutation. Of the 39 matrilineal individuals, five suffered from mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), two had life-threatening mitochondrial myopathy (LTMM), and one patient had neuropathy,...
Source: Journal of the Neurological Sciences - November 5, 2019 Category: Neurology Authors: Gailing Liu, Xiya Shen, Yongan Sun, Qing Lv, Yuanyuan Li, Ailian Du Source Type: research

Intravenous Thrombolysis in Posterior Circulation Stroke
Conclusions: Up to date, no data about PCIS and IVT are available from RTCs. Based on limited results from retrospective clinical studies and case series, IVT is safer for use in PCIS than in ACIS. Patients with brainstem ischemia, vertebral artery occlusion, and absence of basilar or posterior cerebral artery occlusion could be considered for treatment with IVT even in borderline cases. Time to IVT in PCIS seems to be a less crucial factor than in ACIS. IVT for PCIS may be beneficial even after 4.5 h from symptom onset. Introduction History of Intravenous Thrombolysis—The Most Relevant Studies Intravenous...
Source: Frontiers in Neurology - April 25, 2019 Category: Neurology Source Type: research

Neurological Involvement in Primary Systemic Vasculitis
Conclusion Neurological involvement is a common complication of PSV (Table 1), and neurologists play an important role in the identification and diagnosis of PSV patients with otherwise unexplained neurological symptoms as their chief complaint. This article summarizes the neurological manifestations of PSV and hopes to improve neuroscientists' understanding of this broad range of diseases. TABLE 1 Table 1. Common CNS and PNS involvements of primary systemic vasculitis. Author Contributions SZ conceived the article and wrote the manuscript. DY and GT reviewed and edited the manuscript. All authors ...
Source: Frontiers in Neurology - April 25, 2019 Category: Neurology Source Type: research

A Novel Variant in Non-coding Region of GJB1 Is Associated With X-Linked Charcot-Marie-Tooth Disease Type 1 and Transient CNS Symptoms
Conclusion A novel GJB1 variant of c.-170T>G in non-coding region was found in this big Chinese CMTX1 pedigree. This is the first report of variant in non-coding DNA sequence associated with transient CNS symptoms. Thyroid malfunction may contribute to the CNS symptoms in this case. Ethics Statement This study has been reviewed and approved by the Ethics Committee of the China-Japan Union Hospital of Jilin University. Each member of the family provided written informed consent to the participation in the study, the genetic test, and authorized to publish the study including the photos in accordance with the Decl...
Source: Frontiers in Neurology - April 23, 2019 Category: Neurology Source Type: research

A Chinese Family With Adult-Onset Leigh-Like Syndrome Caused by the Heteroplasmic m.10191T > C Mutation in the Mitochondrial MTND3 Gene
Conclusion The m.10191T>C mutation in the mtDNA of the complex I (CI) subunit of MTND3 results in the substitution of a highly conserved amino acid (p.Ser45Pro) within the ND3 protein, leading to CI dysfunction through impaired enzyme catalysis rather than impaired stability or assembly, causing a broad clinical spectrum of disorders (26). Patients with the m.10191T>C mutation are rare. In the present study, we report on a family of patients with the extremely rare adult-onset Leigh-like syndrome with the m.10191T>C mutation. Including the two patients from our reported family, the m.10191T...
Source: Frontiers in Neurology - April 17, 2019 Category: Neurology Source Type: research