Publications

Abstract

The cerebellar ataxias are a group of incurable brain disorders that are caused primarily by the progressive dysfunction and degeneration of cerebellar Purkinje cells. The lack of reliable disease models for the heterogeneous ataxias has hindered the understanding of the underlying pathogenic mechanisms as well as the development of effective therapies for these devastating diseases. Recent advances in the field of induced pluripotent stem cell (iPSC) technology offer new possibilities to better understand and potentially reverse disease pathology. Given the neurodevelopmental phenotypes observed in several types of ataxias, iPSC-based models have the potential to provide significant insights into disease progression, as well as opportunities for the development of early intervention therapies. To date, however, very few studies have successfully used iPSC-derived cells to cerebellar ataxias. In this review, we focus on recent breakthroughs in generating human iPSC-derived Purkinje cells. We also highlight the future challenges that will need to be addressed in order to fully exploit these models for the modelling of the molecular mechanisms underlying cerebellar ataxias and the development of effective therapeutics.

Abstract

Jedek is a previously unrecognized variety of the Northern Aslian subgroup of the Aslian branch of the Austroasiatic language family. It is spoken by c. 280 individuals in the resettlement area of Sungai Rual, near Jeli in Kelantan state, Peninsular Malaysia. The community originally consisted of several bands of foragers along the middle reaches of the Pergau river. Jedek’s distinct status first became known during a linguistic survey carried out in the DOBES project Tongues of the Semang (2005-2011). This paper describes the process leading up to its discovery and provides an overview of its typological characteristics.

Abstract

Using the masked priming paradigm, we examined which phonological unit is used when naming Kanji compounds. Although the phonological unit in the Japanese language has been suggested to be the mora, Experiment 1 found no priming for mora-related Kanji prime-target pairs. In Experiment 2, significant priming was only found when Kanji pairs shared the whole sound of their initial Kanji characters. Nevertheless, when the same Kanji pairs used in Experiment 2 were transcribed into Kana, significant mora priming was observed in Experiment 3. In Experiment 4, matching the syllable structure and pitch-accent of the initial Kanji characters did not lead to mora priming, ruling out potential alternative explanations for the earlier absence of the effect. A significant mora priming effect was observed, however, when the shared initial mora constituted the whole sound of their initial Kanji characters in Experiments 5. Lastly, these results were replicated in Experiment 6. Overall, these results indicate that the phonological unit involved when naming Kanji compounds is not the mora but the whole sound of each Kanji character. We discuss how different phonological units may be involved when processing Kanji and Kana words as well as the implications for theories dealing with language production processes.

Abstract

This article provides a first overview of some striking grammatical structures in Türk Idotscedilaret Dili (Turkish Sign Language, TID), the sign language used by the Deaf community in Turkey. The data are described with a typological perspective in mind, focusing on aspects of TID grammar that are typologically unusual across sign languages. After giving an overview of the historical, sociolinguistic and educational background of TID and the language community using this sign language, five domains of TID grammar are investigated in detail. These include a movement derivation signalling completive aspect, three types of nonmanual negation — headshake, backward head tilt, and puffed cheeks — and their distribution, cliticization of the negator NOT to a preceding predicate host sign, an honorific whole-entity classifier used to refer to humans, and a question particle, its history and current status in the language. A final evaluation points out the significance of these data for sign language research and looks at perspectives for a deeper understanding of the language and its history.

Abstract

Scene-selective regions (SSRs), including the parahippocampal place area (PPA), retrosplenial cortex (RSC), and transverse occipital sulcus (TOS), are among the most widely characterized functional regions in the human brain. However, previous studies have mostly focused on the commonality within each SSR, providing little information on different aspects of their variability. In a large group of healthy adults (N = 202), we used functional magnetic resonance imaging to investigate different aspects of topographical and functional variability within SSRs, including interindividual, interhemispheric, and sex differences. First, the PPA, RSC, and TOS were delineated manually for each individual. We then demonstrated that SSRs showed substantial interindividual variability in both spatial topography and functional selectivity. We further identified consistent interhemispheric differences in the spatial topography of all three SSRs, but distinct interhemispheric differences in scene selectivity. Moreover, we found that all three SSRs showed stronger scene selectivity in men than in women. In summary, our work thoroughly characterized the interindividual, interhemispheric, and sex variability of the SSRs and invites future work on the origin and functional significance of these variabilities. Additionally, we constructed the first probabilistic atlases for the SSRs, which provide the detailed anatomical reference for further investigations of the scene network.

Abstract

This study investigates the morphological and morphosyntactic characteristics of hand configurations in signs, particularly in Nederlandse Gebarentaal (NGT). The literature on sign languages in general acknowledges that hand configurations can function as morphemes, more specifically as classifiers , in a subset of signs: verbs expressing the motion, location, and existence of referents (VELMs). These verbs are considered the output of productive sign formation processes. In contrast, other signs in which similar hand configurations appear ( iconic or motivated signs) have been considered to be lexicalized signs, not involving productive processes. This research report shows that meaningful hand configurations have (at least) two very different functions in the grammar of NGT (and presumably in other sign languages, too). First, they are agreement markers on VELMs, and hence are functional elements. Second, they are roots in motivated signs, and thus lexical elements. The latter signs are analysed as root compounds and are formed from various roots by productive processes. The similarities in surface form and differences in morphosyntactic characteristics observed in comparison of VELMs and root compounds are attributed to their different structures and to the sign language interface between grammar and phonetic form

Abstract

Although in many respects sign languages have a similar structure to that of spoken languages, the different modalities in which both types of languages are expressed cause differences in structure as well. One of the most striking differences between spoken and sign languages is the influence of the interface between grammar and PF on the surface form of utterances. Spoken language words and phrases are in general characterized by sequential strings of sounds, morphemes and words, while in sign languages we find that many phonemes, morphemes, and even words are expressed simultaneously. A linguistic model should be able to account for the structures that occur in both spoken and sign languages. In this paper, I will discuss the morphological/ morphosyntactic structure of signs in Nederlandse Gebarentaal (Sign Language of the Netherlands, henceforth NGT), with special focus on the components ‘place of articulation’ and ‘handshape’. I will focus on their multiple functions in the grammar of NGT and argue that the framework of Distributed Morphology (DM), which accounts for word formation in spoken languages, is also suited to account for the formation of structures in sign languages. First I will introduce the phonological and morphological structure of NGT signs. Then, I will briefly outline the major characteristics of the DM framework. Finally, I will account for signs that have the same surface form but have a different morphological structure by means of that framework.