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Hereditary sensory and autonomic neuropathy type II (HSANII) is an early-onset autosomal recessive disorder characterized by loss of perception to pain, touch, and heat due to a loss of peripheral sensory nerves. Mutations in hereditary sensory neuropathy type II (HSN2), a single-exon ORF originally identified in affected families in Quebec and Newfoundland, Canada, were found to cause HSANII. We report here that HSN2 is a nervous system-specific exon of the with-no-lysine(K)-1 (WNK1) gene. WNK1 mutations have previously been reported to cause pseudohypoaldosteronism type II but have not been studied in the nervous system. Given the high degree of conservation of WNK1 between mice and humans, we characterized the structure and expression patterns of this isoform in mice. Immunodetections indicated that this Wnk1/Hsn2 isoform was expressed in sensory components of the peripheral nervous system and CNS associated with relaying sensory and nociceptive signals, including satellite cells, Schwann cells, and sensory neurons. We also demonstrate that the novel protein product of Wnk1/Hsn2 was more abundant in sensory neurons than motor neurons. The characteristics of WNK1/HSN2 point to a possible role for this gene in the peripheral sensory perception deficits characterizing HSANII.

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Recent studies have highlighted a fear or difficulty with the study and understanding of neuroanatomy among medical and healthcare students. This has been linked with a diminished confidence of clinical practitioners and students to manage patients with neurological conditions. The underlying reasons for this difficulty have been queried among a broad cohort of medical, dental, occupational therapy, and speech and language sciences students. Direct evidence of the students' perception regarding specific difficulties associated with learning neuroanatomy has been provided and some of the measures required to address these issues have been identified. Neuroanatomy is perceived as a more difficult subject compared to other anatomy topics (e.g., reproductive/pelvic anatomy) and not all components of the neuroanatomy curriculum are viewed as equally challenging. The difficulty in understanding neuroanatomical concepts is linked to intrinsic factors such as the inherent complex nature of the topic rather than outside influences (e.g., lecture duration). Participants reporting high levels of interest in the subject reported higher levels of knowledge, suggesting that teaching tools aimed at increasing interest, such as case-based scenarios, could facilitate acquisition of knowledge. Newer pedagogies, including web-resources and computer assisted learning (CAL) are considered important tools to improve neuroanatomy learning, whereas traditional tools such as lecture slides and notes were considered less important. In conclusion, it is suggested that understanding of neuroanatomy could be enhanced and neurophobia be decreased by purposefully designed CAL resources. This data could help curricular designers to refocus attention and guide educators to develop improved neuroanatomy web-resources in future. Anat Sci Educ 11: 81-93. © 2017 American Association of Anatomists.

J. Neurochem. (2012) 120, 964–973. Abstract During pregnancy, activation of the maternal immune system results in inflammation in the foetal nervous system. The causative agents are pro‐inflammatory cytokines like interleukin‐1β (IL‐1β), produced by the foetus. In this study, we examine the effect of IL‐1β on the proliferation and differentiation of neural progenitor cells (NPCs) to better understand its potential effects on the developing brain. We find that the IL‐1β receptor (IL‐1R1) is expressed in the ventral mesencephalon of the developing brain. Furthermore, IL‐1R1 is expressed on Nestin‐positive, Sox‐2‐positive NPCs. IL‐1β treatment reduced the numbers of proliferating NPCs, an effect prevented by the IL‐1R1 receptor antagonist. LDH and MTT assays, and western blot analysis for cleaved caspase 3 and poly(ADP‐ribose) polymerase, confirmed that this was not due to an increase in cell death but rather an induction of differentiation. To further study the effects of IL‐1β on cell fate determination, we differentiated NPCs in the presence and absence of IL‐1β. Il‐1β promoted gliogenesis and inhibited neurogenesis, an effect that required p38‐MAPK kinase signalling. In summary, these data show that exposure of NPCs to IL‐1β affects their development. This necessitates an examination of the consequences that maternal immune system activation during pregnancy has on the cellular architecture of the developing brain.

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