A novel LITAF/SIMPLE mutation within a family with a demyelinating form of Charcot–Marie–Tooth disease
Charcot–Marie–Tooth disease type 1 (CMT1) is a common disorder of the peripheral nervous system. The underlying genetic cause is highly heterogeneous, and mutations in SIMPLE (small integral membrane protein of lysosome/late endosome) represent a rare cause of CMT type 1, named CMT1C. Herein, we rep...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Ciotti, Paola [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2014transfer abstract |
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| Umfang: |
4 |
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| Übergeordnetes Werk: |
Enthalten in: A new global analytical potential energy surface of NaH - Yuan, Meiling ELSEVIER, 2018, official journal of the World Federation of Neurology, Amsterdam [u.a.] |
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| Übergeordnetes Werk: |
volume:343 ; year:2014 ; number:1 ; day:15 ; month:08 ; pages:183-186 ; extent:4 |
| Links: |
|---|
| DOI / URN: |
10.1016/j.jns.2014.05.029 |
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| 520 | |a Charcot–Marie–Tooth disease type 1 (CMT1) is a common disorder of the peripheral nervous system. The underlying genetic cause is highly heterogeneous, and mutations in SIMPLE (small integral membrane protein of lysosome/late endosome) represent a rare cause of CMT type 1, named CMT1C. Herein, we report the clinical, electrophysiological, and neuropathological findings of an Italian CMT1 family with a novel SIMPLE missense mutation. The family exhibited electrophysiological signs of demyelination, predominantly affecting the lower limbs, with conduction blocks, and a wide variability of age of onset among the members. Molecular analysis identified the novel heterozygous missense mutation p.Pro135Arg in SIMPLE which co-segregated with the disease within the pedigree. In conclusion, our findings confirm that the genetic analysis of LITAF/SIMPLE should be considered for the diagnostic flow-chart of CMT1 patient, especially when nerve conduction studies show the presence of conduction blocks. | ||
| 520 | |a Charcot–Marie–Tooth disease type 1 (CMT1) is a common disorder of the peripheral nervous system. The underlying genetic cause is highly heterogeneous, and mutations in SIMPLE (small integral membrane protein of lysosome/late endosome) represent a rare cause of CMT type 1, named CMT1C. Herein, we report the clinical, electrophysiological, and neuropathological findings of an Italian CMT1 family with a novel SIMPLE missense mutation. The family exhibited electrophysiological signs of demyelination, predominantly affecting the lower limbs, with conduction blocks, and a wide variability of age of onset among the members. Molecular analysis identified the novel heterozygous missense mutation p.Pro135Arg in SIMPLE which co-segregated with the disease within the pedigree. In conclusion, our findings confirm that the genetic analysis of LITAF/SIMPLE should be considered for the diagnostic flow-chart of CMT1 patient, especially when nerve conduction studies show the presence of conduction blocks. | ||
| 700 | 1 | |a Luigetti, Marco |4 oth | |
| 700 | 1 | |a Geroldi, Alessandro |4 oth | |
| 700 | 1 | |a Capponi, Simona |4 oth | |
| 700 | 1 | |a Pezzini, Ilaria |4 oth | |
| 700 | 1 | |a Gulli, Rossella |4 oth | |
| 700 | 1 | |a Pazzaglia, Costanza |4 oth | |
| 700 | 1 | |a Padua, Luca |4 oth | |
| 700 | 1 | |a Massa, Roberto |4 oth | |
| 700 | 1 | |a Mandich, Paola |4 oth | |
| 700 | 1 | |a Bellone, Emilia |4 oth | |
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10.1016/j.jns.2014.05.029 doi GBVA2014021000011.pica (DE-627)ELV017986974 (ELSEVIER)S0022-510X(14)00319-0 DE-627 ger DE-627 rakwb eng 610 610 DE-600 540 VZ 35.10 bkl Ciotti, Paola verfasserin aut A novel LITAF/SIMPLE mutation within a family with a demyelinating form of Charcot–Marie–Tooth disease 2014transfer abstract 4 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Charcot–Marie–Tooth disease type 1 (CMT1) is a common disorder of the peripheral nervous system. The underlying genetic cause is highly heterogeneous, and mutations in SIMPLE (small integral membrane protein of lysosome/late endosome) represent a rare cause of CMT type 1, named CMT1C. Herein, we report the clinical, electrophysiological, and neuropathological findings of an Italian CMT1 family with a novel SIMPLE missense mutation. The family exhibited electrophysiological signs of demyelination, predominantly affecting the lower limbs, with conduction blocks, and a wide variability of age of onset among the members. Molecular analysis identified the novel heterozygous missense mutation p.Pro135Arg in SIMPLE which co-segregated with the disease within the pedigree. In conclusion, our findings confirm that the genetic analysis of LITAF/SIMPLE should be considered for the diagnostic flow-chart of CMT1 patient, especially when nerve conduction studies show the presence of conduction blocks. Charcot–Marie–Tooth disease type 1 (CMT1) is a common disorder of the peripheral nervous system. The underlying genetic cause is highly heterogeneous, and mutations in SIMPLE (small integral membrane protein of lysosome/late endosome) represent a rare cause of CMT type 1, named CMT1C. Herein, we report the clinical, electrophysiological, and neuropathological findings of an Italian CMT1 family with a novel SIMPLE missense mutation. The family exhibited electrophysiological signs of demyelination, predominantly affecting the lower limbs, with conduction blocks, and a wide variability of age of onset among the members. Molecular analysis identified the novel heterozygous missense mutation p.Pro135Arg in SIMPLE which co-segregated with the disease within the pedigree. In conclusion, our findings confirm that the genetic analysis of LITAF/SIMPLE should be considered for the diagnostic flow-chart of CMT1 patient, especially when nerve conduction studies show the presence of conduction blocks. Luigetti, Marco oth Geroldi, Alessandro oth Capponi, Simona oth Pezzini, Ilaria oth Gulli, Rossella oth Pazzaglia, Costanza oth Padua, Luca oth Massa, Roberto oth Mandich, Paola oth Bellone, Emilia oth Enthalten in Elsevier Science Yuan, Meiling ELSEVIER A new global analytical potential energy surface of NaH 2018 official journal of the World Federation of Neurology Amsterdam [u.a.] (DE-627)ELV001315870 volume:343 year:2014 number:1 day:15 month:08 pages:183-186 extent:4 https://doi.org/10.1016/j.jns.2014.05.029 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 35.10 Physikalische Chemie: Allgemeines VZ AR 343 2014 1 15 0815 183-186 4 045F 610 |
| spelling |
10.1016/j.jns.2014.05.029 doi GBVA2014021000011.pica (DE-627)ELV017986974 (ELSEVIER)S0022-510X(14)00319-0 DE-627 ger DE-627 rakwb eng 610 610 DE-600 540 VZ 35.10 bkl Ciotti, Paola verfasserin aut A novel LITAF/SIMPLE mutation within a family with a demyelinating form of Charcot–Marie–Tooth disease 2014transfer abstract 4 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Charcot–Marie–Tooth disease type 1 (CMT1) is a common disorder of the peripheral nervous system. The underlying genetic cause is highly heterogeneous, and mutations in SIMPLE (small integral membrane protein of lysosome/late endosome) represent a rare cause of CMT type 1, named CMT1C. Herein, we report the clinical, electrophysiological, and neuropathological findings of an Italian CMT1 family with a novel SIMPLE missense mutation. The family exhibited electrophysiological signs of demyelination, predominantly affecting the lower limbs, with conduction blocks, and a wide variability of age of onset among the members. Molecular analysis identified the novel heterozygous missense mutation p.Pro135Arg in SIMPLE which co-segregated with the disease within the pedigree. In conclusion, our findings confirm that the genetic analysis of LITAF/SIMPLE should be considered for the diagnostic flow-chart of CMT1 patient, especially when nerve conduction studies show the presence of conduction blocks. Charcot–Marie–Tooth disease type 1 (CMT1) is a common disorder of the peripheral nervous system. The underlying genetic cause is highly heterogeneous, and mutations in SIMPLE (small integral membrane protein of lysosome/late endosome) represent a rare cause of CMT type 1, named CMT1C. Herein, we report the clinical, electrophysiological, and neuropathological findings of an Italian CMT1 family with a novel SIMPLE missense mutation. The family exhibited electrophysiological signs of demyelination, predominantly affecting the lower limbs, with conduction blocks, and a wide variability of age of onset among the members. Molecular analysis identified the novel heterozygous missense mutation p.Pro135Arg in SIMPLE which co-segregated with the disease within the pedigree. In conclusion, our findings confirm that the genetic analysis of LITAF/SIMPLE should be considered for the diagnostic flow-chart of CMT1 patient, especially when nerve conduction studies show the presence of conduction blocks. Luigetti, Marco oth Geroldi, Alessandro oth Capponi, Simona oth Pezzini, Ilaria oth Gulli, Rossella oth Pazzaglia, Costanza oth Padua, Luca oth Massa, Roberto oth Mandich, Paola oth Bellone, Emilia oth Enthalten in Elsevier Science Yuan, Meiling ELSEVIER A new global analytical potential energy surface of NaH 2018 official journal of the World Federation of Neurology Amsterdam [u.a.] (DE-627)ELV001315870 volume:343 year:2014 number:1 day:15 month:08 pages:183-186 extent:4 https://doi.org/10.1016/j.jns.2014.05.029 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 35.10 Physikalische Chemie: Allgemeines VZ AR 343 2014 1 15 0815 183-186 4 045F 610 |
| allfields_unstemmed |
10.1016/j.jns.2014.05.029 doi GBVA2014021000011.pica (DE-627)ELV017986974 (ELSEVIER)S0022-510X(14)00319-0 DE-627 ger DE-627 rakwb eng 610 610 DE-600 540 VZ 35.10 bkl Ciotti, Paola verfasserin aut A novel LITAF/SIMPLE mutation within a family with a demyelinating form of Charcot–Marie–Tooth disease 2014transfer abstract 4 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Charcot–Marie–Tooth disease type 1 (CMT1) is a common disorder of the peripheral nervous system. The underlying genetic cause is highly heterogeneous, and mutations in SIMPLE (small integral membrane protein of lysosome/late endosome) represent a rare cause of CMT type 1, named CMT1C. Herein, we report the clinical, electrophysiological, and neuropathological findings of an Italian CMT1 family with a novel SIMPLE missense mutation. The family exhibited electrophysiological signs of demyelination, predominantly affecting the lower limbs, with conduction blocks, and a wide variability of age of onset among the members. Molecular analysis identified the novel heterozygous missense mutation p.Pro135Arg in SIMPLE which co-segregated with the disease within the pedigree. In conclusion, our findings confirm that the genetic analysis of LITAF/SIMPLE should be considered for the diagnostic flow-chart of CMT1 patient, especially when nerve conduction studies show the presence of conduction blocks. Charcot–Marie–Tooth disease type 1 (CMT1) is a common disorder of the peripheral nervous system. The underlying genetic cause is highly heterogeneous, and mutations in SIMPLE (small integral membrane protein of lysosome/late endosome) represent a rare cause of CMT type 1, named CMT1C. Herein, we report the clinical, electrophysiological, and neuropathological findings of an Italian CMT1 family with a novel SIMPLE missense mutation. The family exhibited electrophysiological signs of demyelination, predominantly affecting the lower limbs, with conduction blocks, and a wide variability of age of onset among the members. Molecular analysis identified the novel heterozygous missense mutation p.Pro135Arg in SIMPLE which co-segregated with the disease within the pedigree. In conclusion, our findings confirm that the genetic analysis of LITAF/SIMPLE should be considered for the diagnostic flow-chart of CMT1 patient, especially when nerve conduction studies show the presence of conduction blocks. Luigetti, Marco oth Geroldi, Alessandro oth Capponi, Simona oth Pezzini, Ilaria oth Gulli, Rossella oth Pazzaglia, Costanza oth Padua, Luca oth Massa, Roberto oth Mandich, Paola oth Bellone, Emilia oth Enthalten in Elsevier Science Yuan, Meiling ELSEVIER A new global analytical potential energy surface of NaH 2018 official journal of the World Federation of Neurology Amsterdam [u.a.] (DE-627)ELV001315870 volume:343 year:2014 number:1 day:15 month:08 pages:183-186 extent:4 https://doi.org/10.1016/j.jns.2014.05.029 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 35.10 Physikalische Chemie: Allgemeines VZ AR 343 2014 1 15 0815 183-186 4 045F 610 |
| allfieldsGer |
10.1016/j.jns.2014.05.029 doi GBVA2014021000011.pica (DE-627)ELV017986974 (ELSEVIER)S0022-510X(14)00319-0 DE-627 ger DE-627 rakwb eng 610 610 DE-600 540 VZ 35.10 bkl Ciotti, Paola verfasserin aut A novel LITAF/SIMPLE mutation within a family with a demyelinating form of Charcot–Marie–Tooth disease 2014transfer abstract 4 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Charcot–Marie–Tooth disease type 1 (CMT1) is a common disorder of the peripheral nervous system. The underlying genetic cause is highly heterogeneous, and mutations in SIMPLE (small integral membrane protein of lysosome/late endosome) represent a rare cause of CMT type 1, named CMT1C. Herein, we report the clinical, electrophysiological, and neuropathological findings of an Italian CMT1 family with a novel SIMPLE missense mutation. The family exhibited electrophysiological signs of demyelination, predominantly affecting the lower limbs, with conduction blocks, and a wide variability of age of onset among the members. Molecular analysis identified the novel heterozygous missense mutation p.Pro135Arg in SIMPLE which co-segregated with the disease within the pedigree. In conclusion, our findings confirm that the genetic analysis of LITAF/SIMPLE should be considered for the diagnostic flow-chart of CMT1 patient, especially when nerve conduction studies show the presence of conduction blocks. Charcot–Marie–Tooth disease type 1 (CMT1) is a common disorder of the peripheral nervous system. The underlying genetic cause is highly heterogeneous, and mutations in SIMPLE (small integral membrane protein of lysosome/late endosome) represent a rare cause of CMT type 1, named CMT1C. Herein, we report the clinical, electrophysiological, and neuropathological findings of an Italian CMT1 family with a novel SIMPLE missense mutation. The family exhibited electrophysiological signs of demyelination, predominantly affecting the lower limbs, with conduction blocks, and a wide variability of age of onset among the members. Molecular analysis identified the novel heterozygous missense mutation p.Pro135Arg in SIMPLE which co-segregated with the disease within the pedigree. In conclusion, our findings confirm that the genetic analysis of LITAF/SIMPLE should be considered for the diagnostic flow-chart of CMT1 patient, especially when nerve conduction studies show the presence of conduction blocks. Luigetti, Marco oth Geroldi, Alessandro oth Capponi, Simona oth Pezzini, Ilaria oth Gulli, Rossella oth Pazzaglia, Costanza oth Padua, Luca oth Massa, Roberto oth Mandich, Paola oth Bellone, Emilia oth Enthalten in Elsevier Science Yuan, Meiling ELSEVIER A new global analytical potential energy surface of NaH 2018 official journal of the World Federation of Neurology Amsterdam [u.a.] (DE-627)ELV001315870 volume:343 year:2014 number:1 day:15 month:08 pages:183-186 extent:4 https://doi.org/10.1016/j.jns.2014.05.029 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 35.10 Physikalische Chemie: Allgemeines VZ AR 343 2014 1 15 0815 183-186 4 045F 610 |
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10.1016/j.jns.2014.05.029 doi GBVA2014021000011.pica (DE-627)ELV017986974 (ELSEVIER)S0022-510X(14)00319-0 DE-627 ger DE-627 rakwb eng 610 610 DE-600 540 VZ 35.10 bkl Ciotti, Paola verfasserin aut A novel LITAF/SIMPLE mutation within a family with a demyelinating form of Charcot–Marie–Tooth disease 2014transfer abstract 4 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Charcot–Marie–Tooth disease type 1 (CMT1) is a common disorder of the peripheral nervous system. The underlying genetic cause is highly heterogeneous, and mutations in SIMPLE (small integral membrane protein of lysosome/late endosome) represent a rare cause of CMT type 1, named CMT1C. Herein, we report the clinical, electrophysiological, and neuropathological findings of an Italian CMT1 family with a novel SIMPLE missense mutation. The family exhibited electrophysiological signs of demyelination, predominantly affecting the lower limbs, with conduction blocks, and a wide variability of age of onset among the members. Molecular analysis identified the novel heterozygous missense mutation p.Pro135Arg in SIMPLE which co-segregated with the disease within the pedigree. In conclusion, our findings confirm that the genetic analysis of LITAF/SIMPLE should be considered for the diagnostic flow-chart of CMT1 patient, especially when nerve conduction studies show the presence of conduction blocks. Charcot–Marie–Tooth disease type 1 (CMT1) is a common disorder of the peripheral nervous system. The underlying genetic cause is highly heterogeneous, and mutations in SIMPLE (small integral membrane protein of lysosome/late endosome) represent a rare cause of CMT type 1, named CMT1C. Herein, we report the clinical, electrophysiological, and neuropathological findings of an Italian CMT1 family with a novel SIMPLE missense mutation. The family exhibited electrophysiological signs of demyelination, predominantly affecting the lower limbs, with conduction blocks, and a wide variability of age of onset among the members. Molecular analysis identified the novel heterozygous missense mutation p.Pro135Arg in SIMPLE which co-segregated with the disease within the pedigree. In conclusion, our findings confirm that the genetic analysis of LITAF/SIMPLE should be considered for the diagnostic flow-chart of CMT1 patient, especially when nerve conduction studies show the presence of conduction blocks. Luigetti, Marco oth Geroldi, Alessandro oth Capponi, Simona oth Pezzini, Ilaria oth Gulli, Rossella oth Pazzaglia, Costanza oth Padua, Luca oth Massa, Roberto oth Mandich, Paola oth Bellone, Emilia oth Enthalten in Elsevier Science Yuan, Meiling ELSEVIER A new global analytical potential energy surface of NaH 2018 official journal of the World Federation of Neurology Amsterdam [u.a.] (DE-627)ELV001315870 volume:343 year:2014 number:1 day:15 month:08 pages:183-186 extent:4 https://doi.org/10.1016/j.jns.2014.05.029 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 35.10 Physikalische Chemie: Allgemeines VZ AR 343 2014 1 15 0815 183-186 4 045F 610 |
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The underlying genetic cause is highly heterogeneous, and mutations in SIMPLE (small integral membrane protein of lysosome/late endosome) represent a rare cause of CMT type 1, named CMT1C. Herein, we report the clinical, electrophysiological, and neuropathological findings of an Italian CMT1 family with a novel SIMPLE missense mutation. The family exhibited electrophysiological signs of demyelination, predominantly affecting the lower limbs, with conduction blocks, and a wide variability of age of onset among the members. Molecular analysis identified the novel heterozygous missense mutation p.Pro135Arg in SIMPLE which co-segregated with the disease within the pedigree. 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A novel LITAF/SIMPLE mutation within a family with a demyelinating form of Charcot–Marie–Tooth disease |
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Charcot–Marie–Tooth disease type 1 (CMT1) is a common disorder of the peripheral nervous system. The underlying genetic cause is highly heterogeneous, and mutations in SIMPLE (small integral membrane protein of lysosome/late endosome) represent a rare cause of CMT type 1, named CMT1C. Herein, we report the clinical, electrophysiological, and neuropathological findings of an Italian CMT1 family with a novel SIMPLE missense mutation. The family exhibited electrophysiological signs of demyelination, predominantly affecting the lower limbs, with conduction blocks, and a wide variability of age of onset among the members. Molecular analysis identified the novel heterozygous missense mutation p.Pro135Arg in SIMPLE which co-segregated with the disease within the pedigree. In conclusion, our findings confirm that the genetic analysis of LITAF/SIMPLE should be considered for the diagnostic flow-chart of CMT1 patient, especially when nerve conduction studies show the presence of conduction blocks. |
| abstractGer |
Charcot–Marie–Tooth disease type 1 (CMT1) is a common disorder of the peripheral nervous system. The underlying genetic cause is highly heterogeneous, and mutations in SIMPLE (small integral membrane protein of lysosome/late endosome) represent a rare cause of CMT type 1, named CMT1C. Herein, we report the clinical, electrophysiological, and neuropathological findings of an Italian CMT1 family with a novel SIMPLE missense mutation. The family exhibited electrophysiological signs of demyelination, predominantly affecting the lower limbs, with conduction blocks, and a wide variability of age of onset among the members. Molecular analysis identified the novel heterozygous missense mutation p.Pro135Arg in SIMPLE which co-segregated with the disease within the pedigree. In conclusion, our findings confirm that the genetic analysis of LITAF/SIMPLE should be considered for the diagnostic flow-chart of CMT1 patient, especially when nerve conduction studies show the presence of conduction blocks. |
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Charcot–Marie–Tooth disease type 1 (CMT1) is a common disorder of the peripheral nervous system. The underlying genetic cause is highly heterogeneous, and mutations in SIMPLE (small integral membrane protein of lysosome/late endosome) represent a rare cause of CMT type 1, named CMT1C. Herein, we report the clinical, electrophysiological, and neuropathological findings of an Italian CMT1 family with a novel SIMPLE missense mutation. The family exhibited electrophysiological signs of demyelination, predominantly affecting the lower limbs, with conduction blocks, and a wide variability of age of onset among the members. Molecular analysis identified the novel heterozygous missense mutation p.Pro135Arg in SIMPLE which co-segregated with the disease within the pedigree. In conclusion, our findings confirm that the genetic analysis of LITAF/SIMPLE should be considered for the diagnostic flow-chart of CMT1 patient, especially when nerve conduction studies show the presence of conduction blocks. |
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