Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis

Neuronal ceroid lipofuscinoses (NCLs) are a heterogeneous group of lysosomal storage disorders. NCLs include the rare autosomal recessive neurodegenerative disorder neuronal ceroid lipofuscinosis type 2 (CLN2) disease, caused by mutations in the tripeptidyl peptidase 1 (TPP1)/CLN2 gene and the resulting TPP1 enzyme deficiency. CLN2 disease most commonly presents with seizures and/or ataxia in the late-infantile period (ages 2-4), often in combination with a history of language delay, followed by progressive childhood dementia, motor and visual deterioration, and early death. Atypical phenotypes are characterized by later onset and, in some instances, longer life expectancies. Early diagnosis is important to optimize clinical care and improve outcomes; however, currently, delays in diagnosis are common due to low disease awareness, nonspecific clinical presentation, and limited access to diagnostic testing in some regions. In May 2015, international experts met to recommend best laboratory practices for early diagnosis of CLN2 disease. When clinical signs suggest an NCL, TPP1 enzyme activity should be among the first tests performed (together with the palmitoyl-protein thioesterase enzyme activity assay to rule out CLN1 disease). However, reaching an initial suspicion of an NCL or CLN2 disease can be challenging; thus, use of an epilepsy gene panel for investigation of unexplained seizures in the late-infantile/childhood ages is encouraged. To confirm clinical suspicion of CLN2 disease, the recommended gold standard for laboratory diagnosis is demonstration of deficient TPP1 enzyme activity (in leukocytes, fibroblasts, or dried blood spots) and the identification of causative mutations in each allele of the TPP1/CLN2 gene. When it is not possible to perform both analyses, either demonstration of a) deficient TPP1 enzyme activity in leukocytes or fibroblasts, or b) detection of two pathogenic mutations in trans is diagnostic for CLN2 disease

Global Analysis of Proline-Rich Tandem Repeat Proteins Reveals Broad Phylogenetic Diversity in Plant Secretomes

Cell walls, constructed by precisely choreographed changes in the plant secretome, play critical roles in plant cell physiology and development. Along with structural polysaccharides, secreted proline-rich Tandem Repeat Proteins (TRPs) are important for cell wall function, yet the evolutionary diversity of these structural TRPs remains virtually unexplored. Using a systems-level computational approach to analyze taxonomically diverse plant sequence data, we identified 31 distinct Pro-rich TRP classes targeted for secretion. This analysis expands upon the known phylogenetic diversity of extensins, the most widely studied class of wall structural proteins, and demonstrates that extensins evolved before plant vascularization. Our results also show that most Pro-rich TRP classes have unexpectedly restricted evolutionary distributions, revealing considerable differences in plant secretome signatures that define unexplored diversity

Ultramafic vegetation and soils in the circumboreal region of the Northern Hemisphere

The paper summarizes literature on climate, soil chemistry, vegetation and metal accumulation by plants found on ultramafic substrata in the circumboreal zone (sensu Takhtajan, Floristic regions of the world, 1986) of the Northern Hemisphere. We present a list of 50 endemic species and 18 ecotypes obligate to ultramafic soils from the circumboreal region of Holarctic, as well as 30 and 2 species of Ni and Zn hyperaccumulators, respectively. The number of both endemics and hyperaccumulators are markedly lower compared to that of the Mediterranean and tropical regions. The diversity of plant communities on ultramafics soils of the circumboral region is also described. The underlying causes for the differences of ultramafic flora between arctic, cold, cool temperate and Mediterranean and tropical regions are also discussed. © 2018, The Ecological Society of Japan

First detection of a magnetic field in low-luminosity B[e] stars

We report the first detection of the magnetic field in a star of FS CMa type, a subgroup of objects characterized by the B[e] phenomenon. The split of magnetically sensitive lines in IRAS 17449+2320 determines the magnetic field modulus of 6.2 ± 0.2 kG. Spectral lines and their variability reveal the presence of a B-type spectrum and a hot continuum source in the visible. The hot source confirms GALEX UV photometry. Because there is a lack of spectral lines for the hot source in the visible, the spectral fitting gives only the lower temperature limit of the hot source, which is 50 000 K, and the upper limit for the B-type star of 11 100 K. The V∕R ratio of the Hα line shows quasiperiodic behavior on timescale of 800 days. We detected a strong red-shifted absorption in the wings of Balmer and O