3 resultados para Codon, Nonsense

em Dalarna University College Electronic Archive


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Abstract. In addition to 9 vowel and 18 consonant phonemes, Swedish has three prosodic phonemic contrasts: word stress, quantity and tonal word accent. There are also examples of distinctive phrase or sentence stress, where a verb can be followed by either an unstressed preposition or a stressed particle. This study focuses on word level and more specifically on word stress and tonal word accent in disyllabic words. When making curriculums for second language learners, teachers are helped by knowing which phonetic or phonological features are more or less crucial for the intelligibility of speech and there are some structural and anecdotal evidence that word stress should play a more important role for intelligibility of Swedish, than the tonal word accent. The Swedish word stress is about prominence contrasts between syllables, mainly signaled by syllable duration, while the tonal word accent is signaled mainly by pitch contour. The word stress contrast, as in armen [´arːmən] ‘the arm’ - armén [ar´meːn] ‘the army’, the first word trochaic and the second iambic, is present in all regional varieties of Swedish, and realized with roughly the same acoustic cues, while the tonal word accent, as in anden [´anːdən] ‘the duck’ - anden [`anːdən] ‘the spirit’ is absent in some dialects (as well as in singing), and also signaled with a variety of tonal patterns depending on region. The present study aims at comparing the respective perceptual weight of the two mentioned contrasts. Two lexical decision tests were carried out where in total 34 native Swedish listeners should decide whether a stimulus was a real word or a non-word. Real words of all mentioned categories were mixed with nonsense words and words that were mispronounced with opposite stress pattern or opposite tonal word accent category. The results show that distorted word stress caused more non-word judgments and more loss, than distorted word accent. Our conclusion is that intelligibility of Swedish is more sensitive to distorted word stress pattern than to distorted tonal word accent pattern. This is in compliance with the structural arguments presented above, and also with our own intuition.

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Swedish learners of French often experience large difficulties in understanding spoken French. Words that the learners know very well when written or when pronounced separately are often hard to recognize in the speech flow. The aim of this study is to examine Swedish learners’ perception of French speech in order to identify the problems. The thesis consists of two parts. The first part provides an introduction to the perception of a second language. It also describes the phonological structures of Swedish and French and gives an overview of studies of the perception of spoken French. The second part of the thesis contains a presentation and an analysis of four perception experiments conducted with Swedish learners of French. The results show that the learners often confuse phonological contrasts that do not exist in Swedish. It is furthermore found that the phonological processes of schwa deletion, liaison, enchaînement and voicing assimilation contribute to the perception problems. However, although liaison may complicate word recognition the results indicate that the so-called potential liaison does so to an even greater extent. In a listening test using nonsense words, the learners seem actually to expect liaison when perceiving a word that can be linked to a following nonsense word. In fact, sequences like un navas and un avas are both perceived as un avas. Paradoxically, liaison thus seems to be most problematic when it does not occur. As to schwa deletion, the results show that word recognition is delayed when the schwa in the first syllable is deleted, as in la s’maine. In addition, the learners make a large number of errors due to schwa deletion. This phonological process sometimes completely prevents word recognition, especially when combined with a voicing assimilation. Schwa deletion thus seems to strongly complicate Swedish learners’ word recognition in spoken French.

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The aim of this thesis was to identify genetic factors involved in frontotemporal lobar degeneration (FTLD), a neurodegenerative disorder clinically characterised by a progressive change in personality, behaviour and language. FTLD is a genetically complex disorder and a positive family history is found in up to 40% of the cases. In 10-20% of the familial cases the disease can be explained by mutations in the gene encoding the microtubule associated protein tau (MAPT). In the first study we describe the clinical and neuropathological features of a Finnish family with FTLD caused by a mutation in MAPT. We also provide evidence that the pathogenic mechanism of this mutation is through altered splicing of MAPT transcripts. Recently, mutations in the gene encoding progranulin (PGRN) were identified as a major cause of FTLD. In the second study we describe a Swedish family with FTLD caused by a frameshift mutation in PGRN. We provide a clinical and neuropathological description of the family, as well as evidence that the pathogenicity of this mutation is through nonsense-mediated decay of the mutant mRNA transcripts and PGRN haploinsufficiency. In the third study we describe a novel PGRN splice site mutation and a previously described PGRN frameshift mutation, found in a mutation screen of 51 FTLD patients. We describe the clinical and neuropathological characteristics of the mutation carriers and demonstrate that haploinsufficiency is the pathogenic mechanism of the two mutations. In the fourth study we investigate the prevalence of PGRN and MAPT gene dosage alterations in 39 patients with FTLD. No gene dosage alterations were identified, indicating that variations in copy number of the PGRN and MAPT genes are not a common cause of disease, at least not in this FTLD patient collection.