Possible Genetic Heterogeneity of Spinocerebellar Ataxia Linked to Chromosome 15
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Аутори
Weissbach, AnneDjarmati, Ana
Klein, Christine
Dragasevic, Natasa
Zuehlke, Christine
Rakovic, Aleksandar
Gužvić, Miodrag
Butz, Elisabeth
Toennies, Holger
Siebert, Reiner
Petrović, Igor
Svetel, Marina
Kostic, Vladimir S.
Lohmann, Katja
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Autosomal dominant spinocerebellar ataxias (SCAs) are a clinically and genetically heterogeneous group of neurodegenerative disorders. We investigated an SCA family from Serbia of Roma ethnic origin; four affected and nine unaffected family members underwent a detailed neurological examination. The presenting symptom in all patients was gait unsteadiness in early adulthood. Additional features included pyramidal signs, depression, and cognitive impairment. The condition follows an autosomal dominant pattern of inheritance. After excluding repeat expansions in nine known SCA genes, a genome-wide linkage analysis with 412 microsatellite markers localized the putative disease gene to a 40.7 cM (42.5 Mb) region on chromosome 15q between markers D15S1006 and D15S116. The maximum model-based multipoint LOD score was 1.75. This region is only 4.3 Mb away from the SCA11 (TTBK2) gene. Accordingly, mutations in TTBK2 were not found, suggesting a second SCA gene on chromosome 15q as cause of this... novel form of SCA. In addition, we excluded alterations in two candidate genes in the linked region, namely expansion of a polyglutamine-coding CAG repeat in ARID3B and mutations in SEMA6D. (C) 2010 Movement Disorder Society
Кључне речи:
spinocerebellar ataxia / genome-wide linkage analysis / chromosome 15 / SCA11 / genetic heterogeneityИзвор:
Movement Disorders, 2010, 25, 11, 1577-1582
DOI: 10.1002/mds.22857
ISSN: 0885-3185
PubMed: 20589871
WoS: 000281346400007
Scopus: 2-s2.0-77955835322
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Институција/група
VinčaTY - JOUR AU - Weissbach, Anne AU - Djarmati, Ana AU - Klein, Christine AU - Dragasevic, Natasa AU - Zuehlke, Christine AU - Rakovic, Aleksandar AU - Gužvić, Miodrag AU - Butz, Elisabeth AU - Toennies, Holger AU - Siebert, Reiner AU - Petrović, Igor AU - Svetel, Marina AU - Kostic, Vladimir S. AU - Lohmann, Katja PY - 2010 UR - https://vinar.vin.bg.ac.rs/handle/123456789/4090 AB - Autosomal dominant spinocerebellar ataxias (SCAs) are a clinically and genetically heterogeneous group of neurodegenerative disorders. We investigated an SCA family from Serbia of Roma ethnic origin; four affected and nine unaffected family members underwent a detailed neurological examination. The presenting symptom in all patients was gait unsteadiness in early adulthood. Additional features included pyramidal signs, depression, and cognitive impairment. The condition follows an autosomal dominant pattern of inheritance. After excluding repeat expansions in nine known SCA genes, a genome-wide linkage analysis with 412 microsatellite markers localized the putative disease gene to a 40.7 cM (42.5 Mb) region on chromosome 15q between markers D15S1006 and D15S116. The maximum model-based multipoint LOD score was 1.75. This region is only 4.3 Mb away from the SCA11 (TTBK2) gene. Accordingly, mutations in TTBK2 were not found, suggesting a second SCA gene on chromosome 15q as cause of this novel form of SCA. In addition, we excluded alterations in two candidate genes in the linked region, namely expansion of a polyglutamine-coding CAG repeat in ARID3B and mutations in SEMA6D. (C) 2010 Movement Disorder Society T2 - Movement Disorders T1 - Possible Genetic Heterogeneity of Spinocerebellar Ataxia Linked to Chromosome 15 VL - 25 IS - 11 SP - 1577 EP - 1582 DO - 10.1002/mds.22857 ER -
@article{ author = "Weissbach, Anne and Djarmati, Ana and Klein, Christine and Dragasevic, Natasa and Zuehlke, Christine and Rakovic, Aleksandar and Gužvić, Miodrag and Butz, Elisabeth and Toennies, Holger and Siebert, Reiner and Petrović, Igor and Svetel, Marina and Kostic, Vladimir S. and Lohmann, Katja", year = "2010", abstract = "Autosomal dominant spinocerebellar ataxias (SCAs) are a clinically and genetically heterogeneous group of neurodegenerative disorders. We investigated an SCA family from Serbia of Roma ethnic origin; four affected and nine unaffected family members underwent a detailed neurological examination. The presenting symptom in all patients was gait unsteadiness in early adulthood. Additional features included pyramidal signs, depression, and cognitive impairment. The condition follows an autosomal dominant pattern of inheritance. After excluding repeat expansions in nine known SCA genes, a genome-wide linkage analysis with 412 microsatellite markers localized the putative disease gene to a 40.7 cM (42.5 Mb) region on chromosome 15q between markers D15S1006 and D15S116. The maximum model-based multipoint LOD score was 1.75. This region is only 4.3 Mb away from the SCA11 (TTBK2) gene. Accordingly, mutations in TTBK2 were not found, suggesting a second SCA gene on chromosome 15q as cause of this novel form of SCA. In addition, we excluded alterations in two candidate genes in the linked region, namely expansion of a polyglutamine-coding CAG repeat in ARID3B and mutations in SEMA6D. (C) 2010 Movement Disorder Society", journal = "Movement Disorders", title = "Possible Genetic Heterogeneity of Spinocerebellar Ataxia Linked to Chromosome 15", volume = "25", number = "11", pages = "1577-1582", doi = "10.1002/mds.22857" }
Weissbach, A., Djarmati, A., Klein, C., Dragasevic, N., Zuehlke, C., Rakovic, A., Gužvić, M., Butz, E., Toennies, H., Siebert, R., Petrović, I., Svetel, M., Kostic, V. S.,& Lohmann, K.. (2010). Possible Genetic Heterogeneity of Spinocerebellar Ataxia Linked to Chromosome 15. in Movement Disorders, 25(11), 1577-1582. https://doi.org/10.1002/mds.22857
Weissbach A, Djarmati A, Klein C, Dragasevic N, Zuehlke C, Rakovic A, Gužvić M, Butz E, Toennies H, Siebert R, Petrović I, Svetel M, Kostic VS, Lohmann K. Possible Genetic Heterogeneity of Spinocerebellar Ataxia Linked to Chromosome 15. in Movement Disorders. 2010;25(11):1577-1582. doi:10.1002/mds.22857 .
Weissbach, Anne, Djarmati, Ana, Klein, Christine, Dragasevic, Natasa, Zuehlke, Christine, Rakovic, Aleksandar, Gužvić, Miodrag, Butz, Elisabeth, Toennies, Holger, Siebert, Reiner, Petrović, Igor, Svetel, Marina, Kostic, Vladimir S., Lohmann, Katja, "Possible Genetic Heterogeneity of Spinocerebellar Ataxia Linked to Chromosome 15" in Movement Disorders, 25, no. 11 (2010):1577-1582, https://doi.org/10.1002/mds.22857 . .