Habitat connectivity is considered to have an important role on the persistence of populations in the face of habitat fragmentation, in particular, for species with conservation concern. However, it can also impose indirect negative effects on native species through the spread of invasive species. Here, we investigated direct and indirect effects of habitat connectivity on populations of invasive bullfrogs and native wrinkled frogs and how these effects are modified by the presence of common carp, a resident shared predator, in a farm pond system in Japan. The distribution pattern analysis using a hierarchical Bayesian modelling indicated that bullfrogs had negative effects on wrinkled frogs, and that these negative effects were enhanced with increasing habitat connectivity owing to the metapopulation structure of bullfrogs. The analysis also suggested that common carp mitigated these impacts, presumably owing to a top-down trophic cascade through preferential predation on bullfrog tadpoles. These presumed interspecific interactions were supported by evidence from laboratory experiments, i.e. predation by carp was more intense on bullfrog tadpoles than on wrinkled frog tadpoles owing to the difference in refuge use. Our results indicate that metacommunity perspectives could provide useful insights for establishing effective management strategies of invasive species living in patchy habitats.

Background and purpose: Colony-stimulating factor 1 receptor (CSF1R)-related leukoencephalopathy is an adult-onset leukoencephalopathy caused by mutations in CSF1R. The present study aimed to explore the broader genetic spectrum of CSF1R-related leukoencephalopathy in association with clinical and imaging features.Methods: Mutational analysis of CSF1R was performed for 100 consecutive patients with adult-onset leukoencephalopathy. Sequence and copy number variation (CNV) analyses of CSF1R were performed. The genomic ranges of the deletions were determined by longread sequencing. Ligand-dependent autophosphorylation of CSF1R was examined in cells expressing the CSF1R mutants identified in this study.Results: CSF1R mutations were identified in 15 patients, accounting for 15% of the adultonset leukoencephalopathy cases. Seven novel and five previously reported CSF1R mutations were identified. The novel mutations, including three missense and one in-frame 3 bp deletion, were located in the tyrosine kinase domain (TKD) of CSF1R.

Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disorder that is caused by the abnormal expansion of non-coding trinucleotide GGC repeats in NOTCH2NLC. NIID is clinically characterized by a broad spectrum of clinical presentations. To date, the relationship between expanded repeat lengths and clinical phenotype in patients with NIID remains unclear. Thus, we aimed to clarify the genetic and clinical spectrum and their association in patients with NIID. For this purpose, we genetically analyzed Japanese patients with adult-onset NIID with characteristic clinical and neuroimaging findings. Trinucleotide repeat expansions of NOTCH2NLC were examined by repeat-primed and amplicon-length PCR. In addition, long-read sequencing was performed to determine repeat size and sequence. The expanded GGC repeats ranging from 94 to 361 in NOTCH2NLC were found in all 15 patients. Two patients carried biallelic repeat expansions. There were marked heterogenous clinical and imaging features in NIID patients. Patients presenting with cerebellar ataxia or urinary dysfunction had a significantly larger GGC repeat size than those without. This significant association disappeared when these parameters were compared with the total trinucleotide repeat number. ARWMC score was significantly higher in patients who had a non-glycine-type trinucleotide interruption within expanded poly-glycine motifs than in those with a pure poly-glycine expansion. These results suggested that the repeat length and sequence in NOTCH2NLC may partly modify some clinical and imaging features of NIID.

Figure 1 on p. 4 was published incorrectly. We have added the causal link from 'actual abundance of bullfrogs' to 'actual abundance of wrinkled frogs'. Figure 1. Bayesian analysis diagram for how the abundance of invasive bullfrogs and native wrinkled frogs are directly and indirectly affected by pond connectivity, carp and local environments. Grey boxes represent estimated parameters and white boxes represent data collected from our field surveys and geographical information systems (GIS). Using a Bayesian hierarchical approach, we estimated detectability of call surveys and unknown distance-and area-dependent parameters, a and b, for connectivity, rather than we fixed them a priori.