36 research outputs found

    Identification of NCAN as a candidate gene for developmental dyslexia

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    A whole-genome linkage analysis in a Finnish pedigree of eight cases with developmental dyslexia (DD) revealed several regions shared by the affected individuals. Analysis of coding variants from two affected individuals identified rs146011974G >A (Ala1039Thr), a rare variant within the NCAN gene co-segregating with DD in the pedigree. This variant prompted us to consider this gene as a putative candidate for DD. The RNA expression pattern of the NCAN gene in human tissues was highly correlated (R > 0.8) with that of the previously suggested DD susceptibility genes KIAA0319, CTNND2, CNTNAP2 and GRIN2B. We investigated the association of common variation in NCAN to brain structures in two data sets: young adults (Brainchild study, Sweden) and infants (FinnBrain study, Finland). In young adults, we found associations between a common genetic variant in NCAN, rs1064395, and white matter volume in the left and right temporoparietal as well as the left inferior frontal brain regions. In infants, this same variant was found to be associated with cingulate and prefrontal grey matter volumes. Our results suggest NCAN as a new candidate gene for DD and indicate that NCAN variants affect brain structure

    New and rediscovered Caloplaca (Teloschistaceae, Ascomycota) species from Asia

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    Descriptions for 5 Caloplaca species new for science (C. chejuensis S. Y. Kondr. et J.-S. Hur, Caloplaca coreana S. Y. Kondr. et J.-S. Hur, C. galbina S. Y. Kondr. et J.-S. Hur (all from Korea), C. loekoesii S. Y. Kondr. et J.-S. Hur (from Korea and China), and C. safavidiorum S. Y. Kondr. et B. Zarei-Darki (from Iran)), as well as descriptions of 3 rediscovered species (Caloplaca diffluens (Hue) Zahlbr. (from Korea and China), C. multicolor (Hue) S. Y. Kondr. et J.-S. Hur, and C. spodoplaca (Nyl.) Zahlbr. (both from Korea), which were described from Korea and Japan more than one century ago and not recorded from that time), including diagnostic characters important for the present taxonomy of the genus Caloplaca s. l., are provided. The new combination, Caloplaca multicolor (Hue) S. Y. Kondr. et J.-S. Hur (Basionym: Lecidea multicolor Hue), is proposed

    Oxnerella safavidiorum gen. et spec. nov. (Lecanoromycetidae, Ascomycota) from Iran (Asia) proved by phylogenetic analysis

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    The new genus Oxnerella is proposed for the lichen similar to Iranian endemic species Lecania ochronigra J. Steiner. Its isolated position in the phylogenetic tree after combined ITS nrDNA and 12S SSU mtDNA data set including members of the Ramalinaceae, Lecideaceae, Lecanoraceae and Megasporaceae is discussed. Description of the new species Oxnerella safavidiorum, comparison with allied taxa and illustrations is provided. The new combination Thamnolecania racovitzae (basionym: Lecanora racovitzae Vain.) is proposed

    Five new Caloplaca species (teloschistaceae, ascomycota) from Asia

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    Five new species of the genus Caloplaca: C. austrocoreana S. Y. Kondr., L. Lőkös et J.-S. Hur (from rocks of coastal zone of South Korea), C. kudratovii S. Y. Kondr., B. Zarei-Darki et J.-S. Hur (from lichen thalli and silicate rocks of Iran), C. tarani S. Y. Kondr., S. I. Tchabanenko, I. Galanina et L. Yakovczenko (from bark of deciduous trees of Sakhalin, Khabarovsky and Primorsky regions of Russia), C. yeosuensis S. Y. Kondr. et J.-S. Hur (from rocks of coastal zone of South Korea), and C. zoroasteriorum S. Y. Kondr. et M. Haji Moniri (from bark of deciduous trees of Iran and Uzbekistan) are described, compared with related taxa, and illustrated

    Handedness and language learning disability differentially distribute in progressive aphasia variants

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    Primary progressive aphasia is a neurodegenerative clinical syndrome that presents in adulthood with an isolated, progressive language disorder. Three main clinical/anatomical variants have been described, each associated with distinctive pathology. A high frequency of neurodevelopmental learning disability in primary progressive aphasia has been reported. Because the disorder is heterogeneous with different patterns of cognitive, anatomical and biological involvement, we sought to identify whether learning disability had a predilection for one or more of the primary progressive aphasia subtypes. We screened the University of California San Francisco Memory and Aging Center's primary progressive aphasia cohort (n = 198) for history of language-related learning disability as well as hand preference, which has associations with learning disability. The study included logopenic (n = 48), non-fluent (n = 54) and semantic (n = 96) variant primary progressive aphasias. We investigated whether the presence of learning disability or non-right-handedness was associated with differential effects on demographic, neuropsychological and neuroimaging features of primary progressive aphasia. We showed that a high frequency of learning disability was present only in the logopenic group (χ(2 )= 15.17, P < 0.001) and (χ(2 )= 11.51, P < 0.001) compared with semantic and non-fluent populations. In this group, learning disability was associated with earlier onset of disease, more isolated language symptoms, and more focal pattern of left posterior temporoparietal atrophy. Non-right-handedness was instead over-represented in the semantic group, at nearly twice the prevalence of the general population (χ(2 )= 6.34, P = 0.01). Within semantic variant primary progressive aphasia the right-handed and non-right-handed cohorts appeared homogeneous on imaging, cognitive profile, and structural analysis of brain symmetry. Lastly, the non-fluent group showed no increase in learning disability or non-right-handedness. Logopenic variant primary progressive aphasia and developmental dyslexia both manifest with phonological disturbances and posterior temporal involvement. Learning disability might confer vulnerability of this network to early-onset, focal Alzheimer’s pathology. Left-handedness has been described as a proxy for atypical brain hemispheric lateralization. As non-right-handedness was increased only in the semantic group, anomalous lateralization mechanisms might instead be related to frontotemporal lobar degeneration with abnormal TARDBP. Taken together, this study suggests that neurodevelopmental signatures impart differential trajectories towards neurodegenerative disease
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