Transcriptome Profile of a New Mouse Model of Spinocerebellar Ataxia Type 14 Implies Changes in Cerebellar Development.

The autosomal dominant inherited spinocerebellar ataxias (SCAs) are a group of neurodegenerative disorders characterized by cerebellar atrophy and loss of Purkinje neurons. Spinocerebellar ataxia type 14 (SCA14) is a rare variant of SCAs caused by missense mutations or deletions in the PRKCG gene encoding the protein kinase C γ (PKCγ). Although mutated PKCγs are responsible for SCA14, it is still unclear exactly how mutated PKCγs are involved in SCA14 pathogenesis. Therefore, it is important to study how PKCγ signaling is altered in the cerebellum, which genes or signaling pathways are affected, and how this leads to neurological disease. In this study, we used a mouse line carrying a knock-in pseudo-substrate domain mutation in PKCγ (PKCγ-A24E) as an SCA14 model and performed RNA sequencing (RNA-seq) analysis at an early developmental timepoint (postnatal day 15) to investigate changes in the gene profile compared to wildtype mice. We analyzed both heterozygous (Het) PKCγ-A24E mice and homozygous (Homo) PKCγ-A24E mice for transcriptomic changes. The Het PKCγ-A24E mice reflects the situation observed in human SCA14 patient, while Homo PKCγ-A24E mice display stronger phenotypes with respect to Purkinje cell development and behavior. Our findings highlight an abundance of modifications affecting genes involved in developmental processes, suggesting that at least a part of the final phenotype is shaped by altered cerebellar development and is not only caused by changes in mature animals.

The human masseter muscle revisited: First description of its coronoid part.

INTRODUCTION: The masseter muscle is considered to be bilayered, consisting of a superficial and a deep part. However, a few historical texts mention the possible existence of a third layer as well, but they are extremely inconsistent as to its position. Here we performed an anatomical study to clarify the presence and morphological characteristics of a distinct third layer of the masseter muscle. MATERIALS AND METHODS: We dissected 12 formaldehyde-fixed human cadaver heads, analysed CTs of 16 fresh cadavers, evaluated MR data from one living subject and examined histological sections using methyl methacrylate embedding of one formaldehyde-preserved head. RESULTS: An anatomically distinct, deep third layer of the masseter muscle was consistently demonstrated, running from the medial surface of the zygomatic process of the temporal bone to the root and posterior margin of the coronoid process. Ours is the first detailed description of this part of the masseter muscle. CONCLUSIONS: To facilitate discussion of this newly described part of the masseter, we recommend the name M. masseter pars coronoidea (coronoid part of the masseter) as a further reference. The arrangement of its muscle fibers suggest it being involved in stabilising the mandible by elevating and retracting the coronoid process.

The light and electron microscopic characterisation of identified striato-ventrotegmental projection neurons in the domestic chick (Gallus domesticus).

A major projection of the medial striatum (lobus parolfactorius, LPO) of birds is the striato-ventrotegmental pathway projecting to the area ventralis tegmentalis. In the present study, we investigated the morphology and connectivity of striato-ventrotegmental neurons in the medial LPO. The neurons were identified by injecting the fluorescent retrograde tracer fast blue (FB) into the area ventralis tegmentalis. FB-labelled neurons in the LPO were targeted and iontophoretically injected with lucifer yellow (LY) in paraformaldehyde fixed slices. The fluorescent LY label in the filled neurons was then photoconverted, and the ultrastructure of cells was investigated. According to our results, the soma of striato-ventrotegmental neurons is rich in organelles, in particular rough and smooth endoplasmic reticula and they possess a large, unindented and slightly eccentric nucleus. The LY-labelled cells possess relatively few, sparsely spiny dendrites, and represent a type of medium-sized spiny projection neuron characteristic of the striata of birds. Axospinous synapses on the labelled cells are asymmetric and correspond morphologically to the glutamatergic excitatory type of terminals described previously in the LPO. Both symmetric and asymmetric axodendritic and axosomatic synapses were detected. Some symmetric synapses were GABA immunolabelled, whereas some asymmetric synapses were immunopositive to glutamate. Axon collaterals of labelled cells formed symmetric or asymmetric axodendritic synapses. Direct contact without interposing glial processes was observed between one of the FB-labelled neurons and an adjacent neuronal soma. There was also a microneuron attached to one of the labelled cells, which we identified as a neurogliaform 'dwarf' cell.

Efferent connections of the dorsomedial thalamic nuclei of the domestic chick (Gallus domesticus).

Small iontophoretic injections of the anterograde tracer Phaseolus vulgaris leucoagglutinin were placed in the thalamic anterior dorsomedial nucleus (DMA) of domestic chicks. The projections of the DMA covered the rostrobasal forebrain, ventral paleostriatum, nucleus accumbens, septal nuclei, Wulst, hyperstriatum ventrale, neostriatal areas, archistriatal subdivisions, dorsolateral corticoid area, numerous hypothalamic nuclei, and dorsal thalamic nuclei. The rostral DMA projects preferentially on the hypothalamus, whereas the caudal part is connected mainly to the dorsal thalamus. The DMA is also connected to the periaqueductal gray, deep tectum opticum, intercollicular nucleus, ventral tegmental area, substantia nigra, locus coeruleus, dorsal lateral mesencephalic nucleus, lateral reticular formation, nucleus papillioformis, and vestibular and cranial nerve nuclei. This pattern of connectivity is likely to reflect an important role of the avian DMA in the regulation of attention and arousal, memory formation, fear responses, affective components of pain, and hormonally mediated behaviors.