Publications by authors named "Yun-Lu Li"
Progressive myoclonic ataxia as an initial symptom of typical type I sialidosis with NEU1 mutation.
Ann Clin Transl Neurol
November 2024
Article Synopsis
- * Researchers examined 231 patients and found that 31 had ST-1, with 80.6% of them carrying the c.544A>G mutation; they identified other NEU1 variants, including two novel ones.
- * The study concluded that ST-1 should be considered in Southeastern Chinese patients exhibiting PMA or ataxia symptoms, suggesting that genetic testing for the NEU1 c.544A>G mutation could be a key diagnostic
Article Synopsis
- Primary familial brain calcification (PFBC) is a genetic neurological disorder with no current effective treatment, linked to mutations in the SLC20A2 gene.
- Researchers identified five new genetic variants in the SLC20A2 gene that disrupt normal splicing of its pre-mRNA, leading to dysfunctional protein production.
- The use of splice-switching antisense oligonucleotides (ASOs) not only helped restore functional SLC20A2 expression in affected cells but also showed promise in reducing brain calcification and controlling phosphorus levels in animal models, highlighting a potential therapeutic approach for PFBC.
Objective: Most paroxysmal kinesigenic dyskinesia (PKD) cases are hereditary, yet approximately 60% of patients remain genetically undiagnosed. We undertook the present study to uncover the genetic basis for undiagnosed PKD patients.
Methods: Whole-exome sequencing was performed for 106 PRRT2-negative PKD probands.
Brain calcification is a critical aging-associated pathology and can cause multifaceted neurological symptoms. Cerebral phosphate homeostasis dysregulation, blood-brain barrier defects, and immune dysregulation have been implicated as major pathological processes in familial brain calcification (FBC). Here, we analyzed two brain calcification families and identified calcification co-segregated biallelic variants in the CMPK2 gene that disrupt mitochondrial functions.
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- Primary familial brain calcification (PFBC) is a neurological disorder characterized by bilateral brain calcifications and symptoms like parkinsonism, dystonia, and psychiatric issues.
- This study examined 245 PFBC patients, focusing on those with possible autosomal recessive traits, to identify mutations linked to the disorder.
- Four novel mutations were discovered, which were absent in existing genetic databases and potentially contribute to the clinical features, confirming the pathogenic role of these variants in PFBC.
Objective: Recessive mutations in the CAPN1 gene have recently been identified in spastic paraplegia 76 (SPG76), a complex hereditary spastic paraplegia (HSP) that is combined with cerebellar ataxia, resulting in an ataxia-spasticity disease spectrum. This study aims to assess the influence of CAPN1 variants on the occurrence of SPG76 and identify factors potentially contributing to phenotypic heterogeneity.
Methods: We screened a cohort of 240 unrelated HSP families for variants in CAPN1 using high-throughput sequencing analysis.
Primary familial brain calcification (PFBC) is a rare neurological disorder. Mutations in five genes (SLC20A2, PDGFRB, PDGFB, XPR1, and MYORG) have been linked to PFBC. Here, we used SYBR green-based real-time quantitative polymerase chain reaction (PCR) assay and denaturing high-performance liquid chromatography analysis to detect copy number variants (CNVs) in 20 unrelated patients with PFBC, negatively sequenced for the five known genes.
View Article and Find Full Text PDFSpinal muscular atrophy (SMA) is an autosomal recessive genetic disorder caused by survival motor neuron (SMN) protein deficiency leading the loss of motor neurons in the anterior horns of the spinal cord and brainstem. More than 95% of SMA patients are attributed to the homozygous deletion of survival motor neuron 1 (SMN1) gene, and approximately 5% are caused by compound heterozygous with a SMN1 deletion and a subtle mutation. Here, we identified a rare variant c.
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