Spinocerebellar ataxias （SCAs） are a group of genetic disorders characterized by slowly progressive incoordina- tion of gait and are often associated with poor coordination of the hands, speech, and eye movements. F...Spinocerebellar ataxias （SCAs） are a group of genetic disorders characterized by slowly progressive incoordina- tion of gait and are often associated with poor coordination of the hands, speech, and eye movements. Frequently, atrophy of the cerebellum occurs. The genetic forms of ataxia are diagnosed by family history, physical examina- tion, neuroimaging, and molecular genetic testing. At present, 36 SCA subtypes including 27 pathogenic genes have been identified [1]. Different subtypes of SCAs have clear distribution differences among ethnic populations, and SCA8 is an infrequent entity worldwide, which has mostly been reported in Japanese, but has never been reported in Chinese [2]. SCAB involves bidirectional expression based on the total number of both the （CTA）n and （CTG）n expansion transcripts in ATXN8OS. The pathogenesis of this disorder is complex and the spectrum of clinical presentations is broad. It is predominantly characterized by drawn-out slowness of speech and gait instability, followed by slowly progressive ataxia, with disease onset typically occurring in adulthood [3]. How- ever, the lowest full-penetrance allele for SCA8 onset remains elusive and the current understanding of the phenotypic and genotypic features of SCA8 is limited. Since SCA8 has not yet been reported in the Chinese population and is scantily reported in a small proportion of pedigrees so far, clinical knowledge is still developing. Moreover, the boundary between the normal and patho- genic alleles of SCA8 is uncertain. Here we report the clinical and molecular genetic characteristics of 3 Chinese SCA8 families and have identified 51 CTA/CTG repeats within ATXN8OS, probably the shortest pathogenic allele for SCA8.展开更多
The regulation of magnetic ordering and its precisely tailored thermal expansion properties in magnetic materials are ongoing hot topics,urgently demanded by modern industries.Owing to its strongly distance-dependent ...The regulation of magnetic ordering and its precisely tailored thermal expansion properties in magnetic materials are ongoing hot topics,urgently demanded by modern industries.Owing to its strongly distance-dependent complex magnetic structure,the properties of Ce_(2)Fe_(17)intermetallic compound are highly sensitive to the preparation process and a series of multi-physical fields including pressure,temperature,and magnetic fields.Here,we introduced tensile stress into Ce_(2)Fe_(17)using a high-energy ball milling method.Both static and high-frequency magnetic measurements revealed stress-induced room-temperature ferromagnetic ordering in Ce_(2)Fe_(17),with the magnetization showing a nearly linear relationship with strain as milling time varies.Complementary neutron diffraction and Mossbauer spectroscopy confirmed that ball milling eliminated the helical magnetic ordering and enhanced the ferromagnetic ordering,resulting in room-temperature ferromagnetism in Ce_(2)Fe_(17).Due to the inhomogeneous strain and short-range ferromagnetic ordering caused by ball milling,Ce_(2)Fe_(17)exhibits a near-zero thermal expansion behavior(α=-1.70×10^(-6)K^(-1))over a wide temperature range(100-225 K),making it a promising candidate for zero thermal expansion materials.This work highlights that strain control via high-energy ball milling is a feasible and scalable strategy for tuning the magnetic interactions and the interplay between lattice structure and magnetic ordering in intermetallic compounds.展开更多
基金supported by grants from the National Natural Science Foundation of China(81301486 and81672095)
文摘Spinocerebellar ataxias （SCAs） are a group of genetic disorders characterized by slowly progressive incoordina- tion of gait and are often associated with poor coordination of the hands, speech, and eye movements. Frequently, atrophy of the cerebellum occurs. The genetic forms of ataxia are diagnosed by family history, physical examina- tion, neuroimaging, and molecular genetic testing. At present, 36 SCA subtypes including 27 pathogenic genes have been identified [1]. Different subtypes of SCAs have clear distribution differences among ethnic populations, and SCA8 is an infrequent entity worldwide, which has mostly been reported in Japanese, but has never been reported in Chinese [2]. SCAB involves bidirectional expression based on the total number of both the （CTA）n and （CTG）n expansion transcripts in ATXN8OS. The pathogenesis of this disorder is complex and the spectrum of clinical presentations is broad. It is predominantly characterized by drawn-out slowness of speech and gait instability, followed by slowly progressive ataxia, with disease onset typically occurring in adulthood [3]. How- ever, the lowest full-penetrance allele for SCA8 onset remains elusive and the current understanding of the phenotypic and genotypic features of SCA8 is limited. Since SCA8 has not yet been reported in the Chinese population and is scantily reported in a small proportion of pedigrees so far, clinical knowledge is still developing. Moreover, the boundary between the normal and patho- genic alleles of SCA8 is uncertain. Here we report the clinical and molecular genetic characteristics of 3 Chinese SCA8 families and have identified 51 CTA/CTG repeats within ATXN8OS, probably the shortest pathogenic allele for SCA8.
基金financially supported by the National Key Research and Development Program of China(Nos.2021YFB3501301 and 2021YFB3501302)the National Natural Science Foundation of China(No.51731001)+1 种基金the Open Fund of the China Spallation Neutron Source Songshan Lake Science City(No.KFKT2023B14)the Large Scientific Facility Open Subject of Songshan Lake,Dongguan,Guangdong(No.KFKT2022A06)
文摘The regulation of magnetic ordering and its precisely tailored thermal expansion properties in magnetic materials are ongoing hot topics,urgently demanded by modern industries.Owing to its strongly distance-dependent complex magnetic structure,the properties of Ce_(2)Fe_(17)intermetallic compound are highly sensitive to the preparation process and a series of multi-physical fields including pressure,temperature,and magnetic fields.Here,we introduced tensile stress into Ce_(2)Fe_(17)using a high-energy ball milling method.Both static and high-frequency magnetic measurements revealed stress-induced room-temperature ferromagnetic ordering in Ce_(2)Fe_(17),with the magnetization showing a nearly linear relationship with strain as milling time varies.Complementary neutron diffraction and Mossbauer spectroscopy confirmed that ball milling eliminated the helical magnetic ordering and enhanced the ferromagnetic ordering,resulting in room-temperature ferromagnetism in Ce_(2)Fe_(17).Due to the inhomogeneous strain and short-range ferromagnetic ordering caused by ball milling,Ce_(2)Fe_(17)exhibits a near-zero thermal expansion behavior(α=-1.70×10^(-6)K^(-1))over a wide temperature range(100-225 K),making it a promising candidate for zero thermal expansion materials.This work highlights that strain control via high-energy ball milling is a feasible and scalable strategy for tuning the magnetic interactions and the interplay between lattice structure and magnetic ordering in intermetallic compounds.
