Type Ⅰ sialidosis is a neurosomatic disorder related to the storage of lysosomal and induced by shortage of neuraminidase. It is an autosomal recessive disorder, maybe heterogeneous in its onset, clinical manifestations and prognosis. A case of type Ⅰ sialidosis with a missense mutation in the α-N-acetyl-neuraminidase (NEU1) gene is reported. The patient was characterized by reduced visual acuity, ataxia and subcortical myoclonus. Although the macular cherry red spots were not detected in the male patient, his bilateral visual evoked potential showed severely prolonged latencies of P100, which was consistent with continuous decline of his visions. Finally, he was treated with carbamazepine and clonazepam with moderate improvement in the symptom of myoclonus. In order to make the definite diagnosis, the importance of a clinical history integrating all the patient′s clinical manifestations and the mutation in NEU1 gene was highlighted. Regardless of being an uncommon disorder, the burden for those patients with sialidosis was significant. Therefore, this diagnosis in the relevant setting should always be considered.

Oolong tea is a semi-fermented tea with strong flavor, which is widely favored by consumers because of its floral and fruity aroma as well as fresh and mellow taste. During the processing of oolong tea, withering is the first indispensable process for improving flavor formation. However, the molecular mechanism that affects the flavor formation of oolong tea during withering remains unclear. Transcriptome sequencing was used to analyze the difference among the fresh leaves, indoor-withered leaves and solar-withered leaves of oolong tea. A total of 10 793 differentially expressed genes were identified from the three samples. KEGG enrichment analysis showed that the differentially expressed genes were mainly involved in flavonoid synthesis, terpenoid synthesis, plant hormone signal transduction and spliceosome pathways. Subsequently, twelve differentially expressed genes and four differential splicing genes were identified from the four enrichment pathways for fluorescence quantitative PCR analysis. The results showed that the expression patterns of the selected genes during withering were consistent with the results in the transcriptome datasets. Further analysis revealed that the transcriptional inhibition of flavonoid biosynthesis-related genes, the transcriptional enhancement of terpenoid biosynthesis-related genes, as well as the jasmonic acid signal transduction and the alternative splicing mechanism jointly contributed to the flavor formation of high floral and fruity aroma and low bitterness in solar-withered leaves. The results may facilitate better understanding the molecular mechanisms of solar-withering treatment in flavor formation of oolong tea.
Camellia sinensis/genetics* ; Gene Expression Profiling ; Plant Leaves ; Plant Proteins/metabolism* ; Taste ; Tea ; Transcriptome/genetics*