Adult onset familiar dystonia-plus syndrome: A novel presentation of IRF2BPL-associated neurodegeneration
Pathogenic variants of the IRF2BPL gene have been mostly associated with early onset epileptic encephalopathy. Movement disorders such as dystonia and ataxia were also reported, with symptoms mainly developing between childhood and adolescence. Here we describe a family with several members affected...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Antonelli, Francesca [verfasserIn] |
|---|
| Format: |
E-Artikel |
|---|---|
| Sprache: |
Englisch |
| Erschienen: |
2022 |
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| Umfang: |
3 |
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| Übergeordnetes Werk: |
Enthalten in: Parkinsonism & related disorders - Aral, Efecan ELSEVIER, 2022, official journal of the World Federation of Neurology Research Committee on Parkinsonism and Related Disorders, Amsterdam [u.a.] |
|---|---|
| Übergeordnetes Werk: |
volume:94 ; year:2022 ; pages:22-24 ; extent:3 |
| Links: |
|---|
| DOI / URN: |
10.1016/j.parkreldis.2021.10.033 |
|---|
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| 245 | 1 | 0 | |a Adult onset familiar dystonia-plus syndrome: A novel presentation of IRF2BPL-associated neurodegeneration |
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| 520 | |a Pathogenic variants of the IRF2BPL gene have been mostly associated with early onset epileptic encephalopathy. Movement disorders such as dystonia and ataxia were also reported, with symptoms mainly developing between childhood and adolescence. Here we describe a family with several members affected by a late onset dystonic and ataxic progressive syndrome, caused by a novel heterozygous pathogenic variant in the IRF2BPL gene. | ||
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10.1016/j.parkreldis.2021.10.033 doi /cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000001693.pica (DE-627)ELV056760094 (ELSEVIER)S1353-8020(21)00396-5 DE-627 ger DE-627 rakwb eng 610 VZ 42.13 bkl 44.33 bkl Antonelli, Francesca verfasserin aut Adult onset familiar dystonia-plus syndrome: A novel presentation of IRF2BPL-associated neurodegeneration 2022 3 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Pathogenic variants of the IRF2BPL gene have been mostly associated with early onset epileptic encephalopathy. Movement disorders such as dystonia and ataxia were also reported, with symptoms mainly developing between childhood and adolescence. Here we describe a family with several members affected by a late onset dystonic and ataxic progressive syndrome, caused by a novel heterozygous pathogenic variant in the IRF2BPL gene. Enthalten in Elsevier Science Aral, Efecan ELSEVIER Parkinsonism & related disorders 2022 official journal of the World Federation of Neurology Research Committee on Parkinsonism and Related Disorders Amsterdam [u.a.] (DE-627)ELV009218491 volume:94 year:2022 pages:22-24 extent:3 https://doi.org/10.1016/j.parkreldis.2021.10.033 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 42.13 Molekularbiologie VZ 44.33 Physiologische Chemie VZ AR 94 2022 22-24 3 |
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10.1016/j.parkreldis.2021.10.033 doi /cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000001693.pica (DE-627)ELV056760094 (ELSEVIER)S1353-8020(21)00396-5 DE-627 ger DE-627 rakwb eng 610 VZ 42.13 bkl 44.33 bkl Antonelli, Francesca verfasserin aut Adult onset familiar dystonia-plus syndrome: A novel presentation of IRF2BPL-associated neurodegeneration 2022 3 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Pathogenic variants of the IRF2BPL gene have been mostly associated with early onset epileptic encephalopathy. Movement disorders such as dystonia and ataxia were also reported, with symptoms mainly developing between childhood and adolescence. Here we describe a family with several members affected by a late onset dystonic and ataxic progressive syndrome, caused by a novel heterozygous pathogenic variant in the IRF2BPL gene. Enthalten in Elsevier Science Aral, Efecan ELSEVIER Parkinsonism & related disorders 2022 official journal of the World Federation of Neurology Research Committee on Parkinsonism and Related Disorders Amsterdam [u.a.] (DE-627)ELV009218491 volume:94 year:2022 pages:22-24 extent:3 https://doi.org/10.1016/j.parkreldis.2021.10.033 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 42.13 Molekularbiologie VZ 44.33 Physiologische Chemie VZ AR 94 2022 22-24 3 |
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adult onset familiar dystonia-plus syndrome: a novel presentation of irf2bpl-associated neurodegeneration |
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Adult onset familiar dystonia-plus syndrome: A novel presentation of IRF2BPL-associated neurodegeneration |
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Pathogenic variants of the IRF2BPL gene have been mostly associated with early onset epileptic encephalopathy. Movement disorders such as dystonia and ataxia were also reported, with symptoms mainly developing between childhood and adolescence. Here we describe a family with several members affected by a late onset dystonic and ataxic progressive syndrome, caused by a novel heterozygous pathogenic variant in the IRF2BPL gene. |
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Pathogenic variants of the IRF2BPL gene have been mostly associated with early onset epileptic encephalopathy. Movement disorders such as dystonia and ataxia were also reported, with symptoms mainly developing between childhood and adolescence. Here we describe a family with several members affected by a late onset dystonic and ataxic progressive syndrome, caused by a novel heterozygous pathogenic variant in the IRF2BPL gene. |
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Pathogenic variants of the IRF2BPL gene have been mostly associated with early onset epileptic encephalopathy. Movement disorders such as dystonia and ataxia were also reported, with symptoms mainly developing between childhood and adolescence. Here we describe a family with several members affected by a late onset dystonic and ataxic progressive syndrome, caused by a novel heterozygous pathogenic variant in the IRF2BPL gene. |
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Adult onset familiar dystonia-plus syndrome: A novel presentation of IRF2BPL-associated neurodegeneration |
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