Two more families supporting the existence of monogenic spinocerebellar ataxia 48
Abstract The reduced penetrance of TBP intermediate alleles and the recently proposed possible digenic TBP/STUB1 inheritance raised questions on the possible mechanism involved opening a debate on the existence of SCA48 as a monogenic disorder. We here report clinical and genetic results of two appa...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Palombo, Flavia [verfasserIn] Vaisfeld, Alessandro [verfasserIn] Tropeano, Valentina Concetta [verfasserIn] Ormanbekova, Danara [verfasserIn] Bacchi, Isabelle [verfasserIn] Fiorini, Claudio [verfasserIn] Peruzzi, Adelaide [verfasserIn] Morandi, Luca [verfasserIn] Liguori, Rocco [verfasserIn] Carelli, Valerio [verfasserIn] Rizzo, Giovanni [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2024 |
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| Schlagwörter: |
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| Anmerkung: |
© The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature 2024 |
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| Übergeordnetes Werk: |
Enthalten in: Neurogenetics - Springer Berlin Heidelberg, 1997, 25(2024), 3 vom: 16. Apr., Seite 277-280 |
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| Übergeordnetes Werk: |
volume:25 ; year:2024 ; number:3 ; day:16 ; month:04 ; pages:277-280 |
| Links: |
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| DOI / URN: |
10.1007/s10048-024-00758-8 |
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SPR056587546 |
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| 520 | |a Abstract The reduced penetrance of TBP intermediate alleles and the recently proposed possible digenic TBP/STUB1 inheritance raised questions on the possible mechanism involved opening a debate on the existence of SCA48 as a monogenic disorder. We here report clinical and genetic results of two apparently unrelated patients carrying the same STUB1 variant(c.244G > T;p.Asp82Tyr) with normal TBP alleles and a clinical picture fully resembling SCA48, including cerebellar ataxia, dysarthria and mild cognitive impairment. This report provides supportive evidence that this specific ataxia can also occur as a monogenic disease, considering classical TBP allelic ranges. | ||
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10.1007/s10048-024-00758-8 doi (DE-627)SPR056587546 (SPR)s10048-024-00758-8-e DE-627 ger DE-627 rakwb eng 570 610 VZ 42.13 bkl 44.48 bkl 44.46 bkl Palombo, Flavia verfasserin (orcid)0000-0002-1639-3764 aut Two more families supporting the existence of monogenic spinocerebellar ataxia 48 2024 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature 2024 Abstract The reduced penetrance of TBP intermediate alleles and the recently proposed possible digenic TBP/STUB1 inheritance raised questions on the possible mechanism involved opening a debate on the existence of SCA48 as a monogenic disorder. We here report clinical and genetic results of two apparently unrelated patients carrying the same STUB1 variant(c.244G > T;p.Asp82Tyr) with normal TBP alleles and a clinical picture fully resembling SCA48, including cerebellar ataxia, dysarthria and mild cognitive impairment. This report provides supportive evidence that this specific ataxia can also occur as a monogenic disease, considering classical TBP allelic ranges. SCA48 (dpeaa)DE-He213 SCA17 (dpeaa)DE-He213 Cerebellar ataxia (dpeaa)DE-He213 intermediate alleles (dpeaa)DE-He213 Vaisfeld, Alessandro verfasserin aut Tropeano, Valentina Concetta verfasserin aut Ormanbekova, Danara verfasserin aut Bacchi, Isabelle verfasserin aut Fiorini, Claudio verfasserin aut Peruzzi, Adelaide verfasserin aut Morandi, Luca verfasserin aut Liguori, Rocco verfasserin aut Carelli, Valerio verfasserin aut Rizzo, Giovanni verfasserin aut Enthalten in Neurogenetics Springer Berlin Heidelberg, 1997 25(2024), 3 vom: 16. Apr., Seite 277-280 Online-Ressource (DE-627)269760040 (DE-600)1475869-6 (DE-576)07959865X 1364-6753 nnns volume:25 year:2024 number:3 day:16 month:04 pages:277-280 https://dx.doi.org/10.1007/s10048-024-00758-8 X:SPRINGER Resolving-System lizenzpflichtig Volltext SYSFLAG_0 GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_711 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 42.13 Molekularbiologie VZ 44.48 Medizinische Genetik VZ 44.46 Klinische Pathologie VZ AR 25 2024 3 16 04 277-280 |
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10.1007/s10048-024-00758-8 doi (DE-627)SPR056587546 (SPR)s10048-024-00758-8-e DE-627 ger DE-627 rakwb eng 570 610 VZ 42.13 bkl 44.48 bkl 44.46 bkl Palombo, Flavia verfasserin (orcid)0000-0002-1639-3764 aut Two more families supporting the existence of monogenic spinocerebellar ataxia 48 2024 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature 2024 Abstract The reduced penetrance of TBP intermediate alleles and the recently proposed possible digenic TBP/STUB1 inheritance raised questions on the possible mechanism involved opening a debate on the existence of SCA48 as a monogenic disorder. We here report clinical and genetic results of two apparently unrelated patients carrying the same STUB1 variant(c.244G > T;p.Asp82Tyr) with normal TBP alleles and a clinical picture fully resembling SCA48, including cerebellar ataxia, dysarthria and mild cognitive impairment. This report provides supportive evidence that this specific ataxia can also occur as a monogenic disease, considering classical TBP allelic ranges. SCA48 (dpeaa)DE-He213 SCA17 (dpeaa)DE-He213 Cerebellar ataxia (dpeaa)DE-He213 intermediate alleles (dpeaa)DE-He213 Vaisfeld, Alessandro verfasserin aut Tropeano, Valentina Concetta verfasserin aut Ormanbekova, Danara verfasserin aut Bacchi, Isabelle verfasserin aut Fiorini, Claudio verfasserin aut Peruzzi, Adelaide verfasserin aut Morandi, Luca verfasserin aut Liguori, Rocco verfasserin aut Carelli, Valerio verfasserin aut Rizzo, Giovanni verfasserin aut Enthalten in Neurogenetics Springer Berlin Heidelberg, 1997 25(2024), 3 vom: 16. Apr., Seite 277-280 Online-Ressource (DE-627)269760040 (DE-600)1475869-6 (DE-576)07959865X 1364-6753 nnns volume:25 year:2024 number:3 day:16 month:04 pages:277-280 https://dx.doi.org/10.1007/s10048-024-00758-8 X:SPRINGER Resolving-System lizenzpflichtig Volltext SYSFLAG_0 GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_711 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 42.13 Molekularbiologie VZ 44.48 Medizinische Genetik VZ 44.46 Klinische Pathologie VZ AR 25 2024 3 16 04 277-280 |
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10.1007/s10048-024-00758-8 doi (DE-627)SPR056587546 (SPR)s10048-024-00758-8-e DE-627 ger DE-627 rakwb eng 570 610 VZ 42.13 bkl 44.48 bkl 44.46 bkl Palombo, Flavia verfasserin (orcid)0000-0002-1639-3764 aut Two more families supporting the existence of monogenic spinocerebellar ataxia 48 2024 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature 2024 Abstract The reduced penetrance of TBP intermediate alleles and the recently proposed possible digenic TBP/STUB1 inheritance raised questions on the possible mechanism involved opening a debate on the existence of SCA48 as a monogenic disorder. We here report clinical and genetic results of two apparently unrelated patients carrying the same STUB1 variant(c.244G > T;p.Asp82Tyr) with normal TBP alleles and a clinical picture fully resembling SCA48, including cerebellar ataxia, dysarthria and mild cognitive impairment. This report provides supportive evidence that this specific ataxia can also occur as a monogenic disease, considering classical TBP allelic ranges. SCA48 (dpeaa)DE-He213 SCA17 (dpeaa)DE-He213 Cerebellar ataxia (dpeaa)DE-He213 intermediate alleles (dpeaa)DE-He213 Vaisfeld, Alessandro verfasserin aut Tropeano, Valentina Concetta verfasserin aut Ormanbekova, Danara verfasserin aut Bacchi, Isabelle verfasserin aut Fiorini, Claudio verfasserin aut Peruzzi, Adelaide verfasserin aut Morandi, Luca verfasserin aut Liguori, Rocco verfasserin aut Carelli, Valerio verfasserin aut Rizzo, Giovanni verfasserin aut Enthalten in Neurogenetics Springer Berlin Heidelberg, 1997 25(2024), 3 vom: 16. Apr., Seite 277-280 Online-Ressource (DE-627)269760040 (DE-600)1475869-6 (DE-576)07959865X 1364-6753 nnns volume:25 year:2024 number:3 day:16 month:04 pages:277-280 https://dx.doi.org/10.1007/s10048-024-00758-8 X:SPRINGER Resolving-System lizenzpflichtig Volltext SYSFLAG_0 GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_120 GBV_ILN_138 GBV_ILN_150 GBV_ILN_151 GBV_ILN_152 GBV_ILN_161 GBV_ILN_170 GBV_ILN_171 GBV_ILN_187 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_250 GBV_ILN_267 GBV_ILN_281 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_711 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2039 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2093 GBV_ILN_2106 GBV_ILN_2107 GBV_ILN_2108 GBV_ILN_2110 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2188 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2446 GBV_ILN_2470 GBV_ILN_2472 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_2548 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4328 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4393 GBV_ILN_4700 42.13 Molekularbiologie VZ 44.48 Medizinische Genetik VZ 44.46 Klinische Pathologie VZ AR 25 2024 3 16 04 277-280 |
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Enthalten in Neurogenetics 25(2024), 3 vom: 16. Apr., Seite 277-280 volume:25 year:2024 number:3 day:16 month:04 pages:277-280 |
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Palombo, Flavia @@aut@@ Vaisfeld, Alessandro @@aut@@ Tropeano, Valentina Concetta @@aut@@ Ormanbekova, Danara @@aut@@ Bacchi, Isabelle @@aut@@ Fiorini, Claudio @@aut@@ Peruzzi, Adelaide @@aut@@ Morandi, Luca @@aut@@ Liguori, Rocco @@aut@@ Carelli, Valerio @@aut@@ Rizzo, Giovanni @@aut@@ |
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Palombo, Flavia |
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Palombo, Flavia ddc 570 bkl 42.13 bkl 44.48 bkl 44.46 misc SCA48 misc SCA17 misc Cerebellar ataxia misc intermediate alleles Two more families supporting the existence of monogenic spinocerebellar ataxia 48 |
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570 610 VZ 42.13 bkl 44.48 bkl 44.46 bkl Two more families supporting the existence of monogenic spinocerebellar ataxia 48 SCA48 (dpeaa)DE-He213 SCA17 (dpeaa)DE-He213 Cerebellar ataxia (dpeaa)DE-He213 intermediate alleles (dpeaa)DE-He213 |
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ddc 570 bkl 42.13 bkl 44.48 bkl 44.46 misc SCA48 misc SCA17 misc Cerebellar ataxia misc intermediate alleles |
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ddc 570 bkl 42.13 bkl 44.48 bkl 44.46 misc SCA48 misc SCA17 misc Cerebellar ataxia misc intermediate alleles |
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Palombo, Flavia Vaisfeld, Alessandro Tropeano, Valentina Concetta Ormanbekova, Danara Bacchi, Isabelle Fiorini, Claudio Peruzzi, Adelaide Morandi, Luca Liguori, Rocco Carelli, Valerio Rizzo, Giovanni |
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two more families supporting the existence of monogenic spinocerebellar ataxia 48 |
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Two more families supporting the existence of monogenic spinocerebellar ataxia 48 |
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Abstract The reduced penetrance of TBP intermediate alleles and the recently proposed possible digenic TBP/STUB1 inheritance raised questions on the possible mechanism involved opening a debate on the existence of SCA48 as a monogenic disorder. We here report clinical and genetic results of two apparently unrelated patients carrying the same STUB1 variant(c.244G > T;p.Asp82Tyr) with normal TBP alleles and a clinical picture fully resembling SCA48, including cerebellar ataxia, dysarthria and mild cognitive impairment. This report provides supportive evidence that this specific ataxia can also occur as a monogenic disease, considering classical TBP allelic ranges. © The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature 2024 |
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Abstract The reduced penetrance of TBP intermediate alleles and the recently proposed possible digenic TBP/STUB1 inheritance raised questions on the possible mechanism involved opening a debate on the existence of SCA48 as a monogenic disorder. We here report clinical and genetic results of two apparently unrelated patients carrying the same STUB1 variant(c.244G > T;p.Asp82Tyr) with normal TBP alleles and a clinical picture fully resembling SCA48, including cerebellar ataxia, dysarthria and mild cognitive impairment. This report provides supportive evidence that this specific ataxia can also occur as a monogenic disease, considering classical TBP allelic ranges. © The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature 2024 |
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Abstract The reduced penetrance of TBP intermediate alleles and the recently proposed possible digenic TBP/STUB1 inheritance raised questions on the possible mechanism involved opening a debate on the existence of SCA48 as a monogenic disorder. We here report clinical and genetic results of two apparently unrelated patients carrying the same STUB1 variant(c.244G > T;p.Asp82Tyr) with normal TBP alleles and a clinical picture fully resembling SCA48, including cerebellar ataxia, dysarthria and mild cognitive impairment. This report provides supportive evidence that this specific ataxia can also occur as a monogenic disease, considering classical TBP allelic ranges. © The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature 2024 |
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Two more families supporting the existence of monogenic spinocerebellar ataxia 48 |
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| score |
7.3997 |