Structural damage in SCA3/MJD begins in the spinal cord, cerebellar peduncles, as well as substantia nigra and progresses to cerebral areas in the long term. These structural differences reveal some insights into the pathogenesis of SCA3/MJD and suggest a staging scheme to map the progression of the disease. Ann Neurol 2018;84:401-408.
We describe the first panel of nuclear simple sequence repeats (SSRs) loci for Brachiaria humidicola (Rendle) Schweick., a warmseason grass with facultative apomixis, variation in ploidy levels (6X-9X), and important forage grass species in the Tropics. Of 38 pairs of primers obtained by using an enriched-library methodology, 27 revealed polymorphism in 58 accessions of the Germplasm Collection of B. humidicola held at Embrapa Beef Cattle, Brazil. Eleven loci amplified in B. dictyoneura, a closely related species with unclear taxonomic boundaries with B. humidicola. Transferability to other three Brachiaria species was also evaluated. The developed microsatellites are potentially useful for genetic studies of B. humidicola, as well as phylogenetic evaluations, conservation and breeding applications.Keywords Urochloa humidicola Á Koroviniagrass Á SSRs Á Taxonomy Á Genetic diversity Brachiaria (Trin.) Griseb. is a large genus of grasses that belongs to the tribe Paniceae, in the subfamily Panicoideae of the family Poaceae. It contains about 100 species distributed throughout the Tropics. Many aspects of taxonomic relationships among Brachiaria species and the related genera Urochloa, Eriochloa and Panicum remain unclear. Such taxonomic issues have been largely discussed since Brachiaria was elevated to the category of genus by Grisebach (1853).Brachiaria humidicola (Rendle) Schweick. is an African perennial stoloniferous species that aposporous pseudogamus apomixis is the predominant reproduction mode. Although apomixes is facultative, in most genotypes it prevails over sexuality.
Background The natural history of neurodegeneration in spinocerebellar ataxia type 3/Machado Joseph disease is still unclear. Here, we built a long‐term longitudinal clinical and neuroimaging study to address this point. Methods Twenty‐three patients with spinocerebellar ataxia type 3/Machado Joseph disease and 22 healthy controls underwent 3T MRI twice 5.0 years apart. T1 and diffusion tensor imaging sequences were obtained. We used T1 multiatlas, diffusion tensor imaging multiatlas, SpineSeg, and CERES‐SUIT for cerebral gray and white matter, spinal cord and cerebellar analyses, respectively. Clinical severity was assessed with scale for assessment and rating of ataxia. Analysis of covariance evaluated longitudinal between‐group changes. Effect sizes were calculated for each significant result. Results Progressive volumetric abnormalities were most evident in the cerebellum (Lobule X and Crus II; effect size, 2.0), followed by the basal ganglia (effect size, 0.7). The cerebellar peduncles had the largest white‐matter diffusivity changes (effect size, 1.29). Scale for assessment and rating of ataxia–related effect size was 0.82. We failed to identify progressive spinal cord abnormalities. Conclusions Longitudinal changes in spinocerebellar ataxia type 3/Machado Joseph disease are more evident in the cerebellum and connections, followed by the basal ganglia. © 2020 International Parkinson and Movement Disorder Society
The first set of nuclear simple sequence repeat (SSR) loci for Brachiaria brizantha (Hochst. ex A. Rich.) Stap is described. A microsatellite-enriched library was constructed and 19 loci were characterized. About 13 SSR loci were found to be polymorphic and across-taxa amplification tests showed that six of them can be transferred to four other species of Brachiaria. This new SSR resource will be a powerful tool for population genetic studies of B. brizantha, for interspecific genetic studies within the genus Brachiaria, for mapping and for marker assisted selection in breeding. Keywords Brachiaria brizantha Á Microsatellite markers Á Genetic diversity Á TransferabilityBrachiaria brizantha (Hochst. ex A. Rich.) Stapf is a grass native to tropical Africa, which reproduces predominantly by apomixis and presents high variation in ploidy levels (2, 4, 5, 6 and 9X). Taxonomy within this genus is controversial. Trinius (1834) described Brachiaria as a subdivision of Panicum. Grisebach (1853) elevated Trinius's subdivision to the category of genus. Webster (1987) has transferred B. brizantha, as well as several other species traditionally included in Brachiaria to the related genus Urochloa. Irrelevant to the taxonomic allocation, Renvoize et al. (1996) demonstrated that this group of species has a highly diverse nature and highlighted its enigmatic status in terms of both the component species and relationships with other genera. Brachiaria brizantha is closely related to B. decumbens and B. ruziziensis, and specimens are at times difficult to distinguish.This first set of microsatellites for B. brizantha is useful not only for conservation of naturally occurring specimens in African savannas, but also for understanding genetic relationships between B. brizantha and its related species, and for further mapping and marker assisted selection in breeding.Genomic DNAs were extracted from freeze-dried leaf samples using the CTAB method (Doyle and Doyle 1987).
Sensory neuronopathies (SN) are a group of disorders characterized by primary damage to the dorsal root ganglia neurons. Clinical features include multifocal areas of hypoaesthesia, pain, dysautonomia, and sensory ataxia, which is the major source of disability. Diagnosis relies upon clinical assessment and nerve conductions studies, but sometimes it is difficult to distinguish SN from similar conditions, such as axonal polyneuropathies and some myelopathies. In this scenario, underdiagnosis is certainly an important issue for SN patients and additional diagnostic tools are needed. MRI is able to evaluate the dorsal columns of the spinal cord and has proven useful in the workup of SN patients. Although T2 weighted hyperintensity restricted to the posterior fasciculi without contrast enhancement is the typical finding, additional abnormalities have been recently reported. The aim of this review is to gather available information on neuroimaging findings of SN, discuss their clinical correlates and the potential impact of novel MRI-based techniques.
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