Late-onset spinal motor neuronopathy – A common form of dominant SMA
We previously described two Finnish families with a new autosomal dominant late-onset spinal motor neuronopathy that was mapped to chromosome 22q11.2–q13.2. In the current screening study of 43 lower motor neuron disease patients from Finland and Sweden, we identified 26 new late-onset spinal motor...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Penttilä, Sini [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2014transfer abstract |
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| Umfang: |
10 |
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| Übergeordnetes Werk: |
Enthalten in: Sperm competition in golden cuttlefish - Guo, Haoyu ELSEVIER, 2020, official journal of the World Muscle Society, Amsterdam [u.a.] |
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| Übergeordnetes Werk: |
volume:24 ; year:2014 ; number:3 ; pages:259-268 ; extent:10 |
| Links: |
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| DOI / URN: |
10.1016/j.nmd.2013.11.010 |
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| 520 | |a We previously described two Finnish families with a new autosomal dominant late-onset spinal motor neuronopathy that was mapped to chromosome 22q11.2–q13.2. In the current screening study of 43 lower motor neuron disease patients from Finland and Sweden, we identified 26 new late-onset spinal motor neuronopathy patients sharing the founder haplotype. In addition to the main symptoms and signs: painful cramps, fasciculations, areflexia and slowly evolving muscle weakness, new features such as mild bulbar findings, were identified. The disease is relatively benign in terms of life expectancy and rate of disability progression, and it is therefore noteworthy that three patients were initially misdiagnosed with ALS. Significant recombinants in this new patient cohort restricted the disease locus by 90% to 1.8Mb. Late-onset spinal motor neuronopathy seems not to be very rare, at least not in Finland, with 38 patients identified in a preliminary ascertainment. | ||
| 520 | |a We previously described two Finnish families with a new autosomal dominant late-onset spinal motor neuronopathy that was mapped to chromosome 22q11.2–q13.2. In the current screening study of 43 lower motor neuron disease patients from Finland and Sweden, we identified 26 new late-onset spinal motor neuronopathy patients sharing the founder haplotype. In addition to the main symptoms and signs: painful cramps, fasciculations, areflexia and slowly evolving muscle weakness, new features such as mild bulbar findings, were identified. The disease is relatively benign in terms of life expectancy and rate of disability progression, and it is therefore noteworthy that three patients were initially misdiagnosed with ALS. Significant recombinants in this new patient cohort restricted the disease locus by 90% to 1.8Mb. Late-onset spinal motor neuronopathy seems not to be very rare, at least not in Finland, with 38 patients identified in a preliminary ascertainment. | ||
| 650 | 7 | |a Motor neuron disease |2 Elsevier | |
| 650 | 7 | |a Lower motor neuron syndrome |2 Elsevier | |
| 650 | 7 | |a Linkage analysis |2 Elsevier | |
| 700 | 1 | |a Jokela, Manu |4 oth | |
| 700 | 1 | |a Huovinen, Sanna |4 oth | |
| 700 | 1 | |a Saukkonen, Anna Maija |4 oth | |
| 700 | 1 | |a Toivanen, Jari |4 oth | |
| 700 | 1 | |a Lindberg, Christopher |4 oth | |
| 700 | 1 | |a Baumann, Peter |4 oth | |
| 700 | 1 | |a Udd, Bjarne |4 oth | |
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10.1016/j.nmd.2013.11.010 doi GBVA2014016000004.pica (DE-627)ELV01776405X (ELSEVIER)S0960-8966(13)01016-X DE-627 ger DE-627 rakwb eng 610 610 DE-600 570 550 VZ BIODIV DE-30 fid 48.68 bkl Penttilä, Sini verfasserin aut Late-onset spinal motor neuronopathy – A common form of dominant SMA 2014transfer abstract 10 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier We previously described two Finnish families with a new autosomal dominant late-onset spinal motor neuronopathy that was mapped to chromosome 22q11.2–q13.2. In the current screening study of 43 lower motor neuron disease patients from Finland and Sweden, we identified 26 new late-onset spinal motor neuronopathy patients sharing the founder haplotype. In addition to the main symptoms and signs: painful cramps, fasciculations, areflexia and slowly evolving muscle weakness, new features such as mild bulbar findings, were identified. The disease is relatively benign in terms of life expectancy and rate of disability progression, and it is therefore noteworthy that three patients were initially misdiagnosed with ALS. Significant recombinants in this new patient cohort restricted the disease locus by 90% to 1.8Mb. Late-onset spinal motor neuronopathy seems not to be very rare, at least not in Finland, with 38 patients identified in a preliminary ascertainment. We previously described two Finnish families with a new autosomal dominant late-onset spinal motor neuronopathy that was mapped to chromosome 22q11.2–q13.2. In the current screening study of 43 lower motor neuron disease patients from Finland and Sweden, we identified 26 new late-onset spinal motor neuronopathy patients sharing the founder haplotype. In addition to the main symptoms and signs: painful cramps, fasciculations, areflexia and slowly evolving muscle weakness, new features such as mild bulbar findings, were identified. The disease is relatively benign in terms of life expectancy and rate of disability progression, and it is therefore noteworthy that three patients were initially misdiagnosed with ALS. Significant recombinants in this new patient cohort restricted the disease locus by 90% to 1.8Mb. Late-onset spinal motor neuronopathy seems not to be very rare, at least not in Finland, with 38 patients identified in a preliminary ascertainment. Motor neuron disease Elsevier Lower motor neuron syndrome Elsevier Linkage analysis Elsevier Jokela, Manu oth Huovinen, Sanna oth Saukkonen, Anna Maija oth Toivanen, Jari oth Lindberg, Christopher oth Baumann, Peter oth Udd, Bjarne oth Enthalten in Elsevier Science Guo, Haoyu ELSEVIER Sperm competition in golden cuttlefish 2020 official journal of the World Muscle Society Amsterdam [u.a.] (DE-627)ELV004843940 volume:24 year:2014 number:3 pages:259-268 extent:10 https://doi.org/10.1016/j.nmd.2013.11.010 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U FID-BIODIV SSG-OLC-PHA 48.68 Aquakultur VZ AR 24 2014 3 259-268 10 045F 610 |
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10.1016/j.nmd.2013.11.010 doi GBVA2014016000004.pica (DE-627)ELV01776405X (ELSEVIER)S0960-8966(13)01016-X DE-627 ger DE-627 rakwb eng 610 610 DE-600 570 550 VZ BIODIV DE-30 fid 48.68 bkl Penttilä, Sini verfasserin aut Late-onset spinal motor neuronopathy – A common form of dominant SMA 2014transfer abstract 10 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier We previously described two Finnish families with a new autosomal dominant late-onset spinal motor neuronopathy that was mapped to chromosome 22q11.2–q13.2. In the current screening study of 43 lower motor neuron disease patients from Finland and Sweden, we identified 26 new late-onset spinal motor neuronopathy patients sharing the founder haplotype. In addition to the main symptoms and signs: painful cramps, fasciculations, areflexia and slowly evolving muscle weakness, new features such as mild bulbar findings, were identified. The disease is relatively benign in terms of life expectancy and rate of disability progression, and it is therefore noteworthy that three patients were initially misdiagnosed with ALS. Significant recombinants in this new patient cohort restricted the disease locus by 90% to 1.8Mb. Late-onset spinal motor neuronopathy seems not to be very rare, at least not in Finland, with 38 patients identified in a preliminary ascertainment. We previously described two Finnish families with a new autosomal dominant late-onset spinal motor neuronopathy that was mapped to chromosome 22q11.2–q13.2. In the current screening study of 43 lower motor neuron disease patients from Finland and Sweden, we identified 26 new late-onset spinal motor neuronopathy patients sharing the founder haplotype. In addition to the main symptoms and signs: painful cramps, fasciculations, areflexia and slowly evolving muscle weakness, new features such as mild bulbar findings, were identified. The disease is relatively benign in terms of life expectancy and rate of disability progression, and it is therefore noteworthy that three patients were initially misdiagnosed with ALS. Significant recombinants in this new patient cohort restricted the disease locus by 90% to 1.8Mb. Late-onset spinal motor neuronopathy seems not to be very rare, at least not in Finland, with 38 patients identified in a preliminary ascertainment. Motor neuron disease Elsevier Lower motor neuron syndrome Elsevier Linkage analysis Elsevier Jokela, Manu oth Huovinen, Sanna oth Saukkonen, Anna Maija oth Toivanen, Jari oth Lindberg, Christopher oth Baumann, Peter oth Udd, Bjarne oth Enthalten in Elsevier Science Guo, Haoyu ELSEVIER Sperm competition in golden cuttlefish 2020 official journal of the World Muscle Society Amsterdam [u.a.] (DE-627)ELV004843940 volume:24 year:2014 number:3 pages:259-268 extent:10 https://doi.org/10.1016/j.nmd.2013.11.010 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U FID-BIODIV SSG-OLC-PHA 48.68 Aquakultur VZ AR 24 2014 3 259-268 10 045F 610 |
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10.1016/j.nmd.2013.11.010 doi GBVA2014016000004.pica (DE-627)ELV01776405X (ELSEVIER)S0960-8966(13)01016-X DE-627 ger DE-627 rakwb eng 610 610 DE-600 570 550 VZ BIODIV DE-30 fid 48.68 bkl Penttilä, Sini verfasserin aut Late-onset spinal motor neuronopathy – A common form of dominant SMA 2014transfer abstract 10 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier We previously described two Finnish families with a new autosomal dominant late-onset spinal motor neuronopathy that was mapped to chromosome 22q11.2–q13.2. In the current screening study of 43 lower motor neuron disease patients from Finland and Sweden, we identified 26 new late-onset spinal motor neuronopathy patients sharing the founder haplotype. In addition to the main symptoms and signs: painful cramps, fasciculations, areflexia and slowly evolving muscle weakness, new features such as mild bulbar findings, were identified. The disease is relatively benign in terms of life expectancy and rate of disability progression, and it is therefore noteworthy that three patients were initially misdiagnosed with ALS. Significant recombinants in this new patient cohort restricted the disease locus by 90% to 1.8Mb. Late-onset spinal motor neuronopathy seems not to be very rare, at least not in Finland, with 38 patients identified in a preliminary ascertainment. We previously described two Finnish families with a new autosomal dominant late-onset spinal motor neuronopathy that was mapped to chromosome 22q11.2–q13.2. In the current screening study of 43 lower motor neuron disease patients from Finland and Sweden, we identified 26 new late-onset spinal motor neuronopathy patients sharing the founder haplotype. In addition to the main symptoms and signs: painful cramps, fasciculations, areflexia and slowly evolving muscle weakness, new features such as mild bulbar findings, were identified. The disease is relatively benign in terms of life expectancy and rate of disability progression, and it is therefore noteworthy that three patients were initially misdiagnosed with ALS. Significant recombinants in this new patient cohort restricted the disease locus by 90% to 1.8Mb. Late-onset spinal motor neuronopathy seems not to be very rare, at least not in Finland, with 38 patients identified in a preliminary ascertainment. Motor neuron disease Elsevier Lower motor neuron syndrome Elsevier Linkage analysis Elsevier Jokela, Manu oth Huovinen, Sanna oth Saukkonen, Anna Maija oth Toivanen, Jari oth Lindberg, Christopher oth Baumann, Peter oth Udd, Bjarne oth Enthalten in Elsevier Science Guo, Haoyu ELSEVIER Sperm competition in golden cuttlefish 2020 official journal of the World Muscle Society Amsterdam [u.a.] (DE-627)ELV004843940 volume:24 year:2014 number:3 pages:259-268 extent:10 https://doi.org/10.1016/j.nmd.2013.11.010 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U FID-BIODIV SSG-OLC-PHA 48.68 Aquakultur VZ AR 24 2014 3 259-268 10 045F 610 |
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10.1016/j.nmd.2013.11.010 doi GBVA2014016000004.pica (DE-627)ELV01776405X (ELSEVIER)S0960-8966(13)01016-X DE-627 ger DE-627 rakwb eng 610 610 DE-600 570 550 VZ BIODIV DE-30 fid 48.68 bkl Penttilä, Sini verfasserin aut Late-onset spinal motor neuronopathy – A common form of dominant SMA 2014transfer abstract 10 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier We previously described two Finnish families with a new autosomal dominant late-onset spinal motor neuronopathy that was mapped to chromosome 22q11.2–q13.2. In the current screening study of 43 lower motor neuron disease patients from Finland and Sweden, we identified 26 new late-onset spinal motor neuronopathy patients sharing the founder haplotype. In addition to the main symptoms and signs: painful cramps, fasciculations, areflexia and slowly evolving muscle weakness, new features such as mild bulbar findings, were identified. The disease is relatively benign in terms of life expectancy and rate of disability progression, and it is therefore noteworthy that three patients were initially misdiagnosed with ALS. Significant recombinants in this new patient cohort restricted the disease locus by 90% to 1.8Mb. Late-onset spinal motor neuronopathy seems not to be very rare, at least not in Finland, with 38 patients identified in a preliminary ascertainment. We previously described two Finnish families with a new autosomal dominant late-onset spinal motor neuronopathy that was mapped to chromosome 22q11.2–q13.2. In the current screening study of 43 lower motor neuron disease patients from Finland and Sweden, we identified 26 new late-onset spinal motor neuronopathy patients sharing the founder haplotype. In addition to the main symptoms and signs: painful cramps, fasciculations, areflexia and slowly evolving muscle weakness, new features such as mild bulbar findings, were identified. The disease is relatively benign in terms of life expectancy and rate of disability progression, and it is therefore noteworthy that three patients were initially misdiagnosed with ALS. Significant recombinants in this new patient cohort restricted the disease locus by 90% to 1.8Mb. Late-onset spinal motor neuronopathy seems not to be very rare, at least not in Finland, with 38 patients identified in a preliminary ascertainment. Motor neuron disease Elsevier Lower motor neuron syndrome Elsevier Linkage analysis Elsevier Jokela, Manu oth Huovinen, Sanna oth Saukkonen, Anna Maija oth Toivanen, Jari oth Lindberg, Christopher oth Baumann, Peter oth Udd, Bjarne oth Enthalten in Elsevier Science Guo, Haoyu ELSEVIER Sperm competition in golden cuttlefish 2020 official journal of the World Muscle Society Amsterdam [u.a.] (DE-627)ELV004843940 volume:24 year:2014 number:3 pages:259-268 extent:10 https://doi.org/10.1016/j.nmd.2013.11.010 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U FID-BIODIV SSG-OLC-PHA 48.68 Aquakultur VZ AR 24 2014 3 259-268 10 045F 610 |
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10.1016/j.nmd.2013.11.010 doi GBVA2014016000004.pica (DE-627)ELV01776405X (ELSEVIER)S0960-8966(13)01016-X DE-627 ger DE-627 rakwb eng 610 610 DE-600 570 550 VZ BIODIV DE-30 fid 48.68 bkl Penttilä, Sini verfasserin aut Late-onset spinal motor neuronopathy – A common form of dominant SMA 2014transfer abstract 10 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier We previously described two Finnish families with a new autosomal dominant late-onset spinal motor neuronopathy that was mapped to chromosome 22q11.2–q13.2. In the current screening study of 43 lower motor neuron disease patients from Finland and Sweden, we identified 26 new late-onset spinal motor neuronopathy patients sharing the founder haplotype. In addition to the main symptoms and signs: painful cramps, fasciculations, areflexia and slowly evolving muscle weakness, new features such as mild bulbar findings, were identified. The disease is relatively benign in terms of life expectancy and rate of disability progression, and it is therefore noteworthy that three patients were initially misdiagnosed with ALS. Significant recombinants in this new patient cohort restricted the disease locus by 90% to 1.8Mb. Late-onset spinal motor neuronopathy seems not to be very rare, at least not in Finland, with 38 patients identified in a preliminary ascertainment. We previously described two Finnish families with a new autosomal dominant late-onset spinal motor neuronopathy that was mapped to chromosome 22q11.2–q13.2. In the current screening study of 43 lower motor neuron disease patients from Finland and Sweden, we identified 26 new late-onset spinal motor neuronopathy patients sharing the founder haplotype. In addition to the main symptoms and signs: painful cramps, fasciculations, areflexia and slowly evolving muscle weakness, new features such as mild bulbar findings, were identified. The disease is relatively benign in terms of life expectancy and rate of disability progression, and it is therefore noteworthy that three patients were initially misdiagnosed with ALS. Significant recombinants in this new patient cohort restricted the disease locus by 90% to 1.8Mb. Late-onset spinal motor neuronopathy seems not to be very rare, at least not in Finland, with 38 patients identified in a preliminary ascertainment. Motor neuron disease Elsevier Lower motor neuron syndrome Elsevier Linkage analysis Elsevier Jokela, Manu oth Huovinen, Sanna oth Saukkonen, Anna Maija oth Toivanen, Jari oth Lindberg, Christopher oth Baumann, Peter oth Udd, Bjarne oth Enthalten in Elsevier Science Guo, Haoyu ELSEVIER Sperm competition in golden cuttlefish 2020 official journal of the World Muscle Society Amsterdam [u.a.] (DE-627)ELV004843940 volume:24 year:2014 number:3 pages:259-268 extent:10 https://doi.org/10.1016/j.nmd.2013.11.010 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U FID-BIODIV SSG-OLC-PHA 48.68 Aquakultur VZ AR 24 2014 3 259-268 10 045F 610 |
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Enthalten in Sperm competition in golden cuttlefish Amsterdam [u.a.] volume:24 year:2014 number:3 pages:259-268 extent:10 |
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In the current screening study of 43 lower motor neuron disease patients from Finland and Sweden, we identified 26 new late-onset spinal motor neuronopathy patients sharing the founder haplotype. In addition to the main symptoms and signs: painful cramps, fasciculations, areflexia and slowly evolving muscle weakness, new features such as mild bulbar findings, were identified. The disease is relatively benign in terms of life expectancy and rate of disability progression, and it is therefore noteworthy that three patients were initially misdiagnosed with ALS. Significant recombinants in this new patient cohort restricted the disease locus by 90% to 1.8Mb. 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We previously described two Finnish families with a new autosomal dominant late-onset spinal motor neuronopathy that was mapped to chromosome 22q11.2–q13.2. In the current screening study of 43 lower motor neuron disease patients from Finland and Sweden, we identified 26 new late-onset spinal motor neuronopathy patients sharing the founder haplotype. In addition to the main symptoms and signs: painful cramps, fasciculations, areflexia and slowly evolving muscle weakness, new features such as mild bulbar findings, were identified. The disease is relatively benign in terms of life expectancy and rate of disability progression, and it is therefore noteworthy that three patients were initially misdiagnosed with ALS. Significant recombinants in this new patient cohort restricted the disease locus by 90% to 1.8Mb. Late-onset spinal motor neuronopathy seems not to be very rare, at least not in Finland, with 38 patients identified in a preliminary ascertainment. |
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We previously described two Finnish families with a new autosomal dominant late-onset spinal motor neuronopathy that was mapped to chromosome 22q11.2–q13.2. In the current screening study of 43 lower motor neuron disease patients from Finland and Sweden, we identified 26 new late-onset spinal motor neuronopathy patients sharing the founder haplotype. In addition to the main symptoms and signs: painful cramps, fasciculations, areflexia and slowly evolving muscle weakness, new features such as mild bulbar findings, were identified. The disease is relatively benign in terms of life expectancy and rate of disability progression, and it is therefore noteworthy that three patients were initially misdiagnosed with ALS. Significant recombinants in this new patient cohort restricted the disease locus by 90% to 1.8Mb. Late-onset spinal motor neuronopathy seems not to be very rare, at least not in Finland, with 38 patients identified in a preliminary ascertainment. |
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We previously described two Finnish families with a new autosomal dominant late-onset spinal motor neuronopathy that was mapped to chromosome 22q11.2–q13.2. In the current screening study of 43 lower motor neuron disease patients from Finland and Sweden, we identified 26 new late-onset spinal motor neuronopathy patients sharing the founder haplotype. In addition to the main symptoms and signs: painful cramps, fasciculations, areflexia and slowly evolving muscle weakness, new features such as mild bulbar findings, were identified. The disease is relatively benign in terms of life expectancy and rate of disability progression, and it is therefore noteworthy that three patients were initially misdiagnosed with ALS. Significant recombinants in this new patient cohort restricted the disease locus by 90% to 1.8Mb. Late-onset spinal motor neuronopathy seems not to be very rare, at least not in Finland, with 38 patients identified in a preliminary ascertainment. |
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