Exome analysis reveals a Japanese family with spinocerebellar ataxia, autosomal recessive 1
Spinocerebellar ataxia autosomal recessive 1 (SCAR1/AOA2) is clinically characterized by an early-onset progressive cerebellar ataxia with axonal neuropathy, ocular motor apraxia, and elevation of serum alpha-fetoprotein level. The disorder is caused by mutations in senataxin (SETX) gene. Here, we r...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Ichikawa, Yaeko [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2013transfer abstract |
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| Umfang: |
3 |
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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:331 ; year:2013 ; number:1 ; day:15 ; month:08 ; pages:158-160 ; extent:3 |
| Links: |
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| DOI / URN: |
10.1016/j.jns.2013.05.018 |
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| Katalog-ID: |
ELV011930578 |
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| 520 | |a Spinocerebellar ataxia autosomal recessive 1 (SCAR1/AOA2) is clinically characterized by an early-onset progressive cerebellar ataxia with axonal neuropathy, ocular motor apraxia, and elevation of serum alpha-fetoprotein level. The disorder is caused by mutations in senataxin (SETX) gene. Here, we report a Japanese SCAR1/AOA2 family with a homozygous nonsense mutation (p.Q1441X) of SETX that was identified by exome sequencing. The family was previously reported as early-onset ataxia of undetermined cause. The present study emphasized the role of whole exome-sequence analysis to establish the molecular diagnosis of neurodegenerative disease presenting with diverse clinical presentations. | ||
| 520 | |a Spinocerebellar ataxia autosomal recessive 1 (SCAR1/AOA2) is clinically characterized by an early-onset progressive cerebellar ataxia with axonal neuropathy, ocular motor apraxia, and elevation of serum alpha-fetoprotein level. The disorder is caused by mutations in senataxin (SETX) gene. Here, we report a Japanese SCAR1/AOA2 family with a homozygous nonsense mutation (p.Q1441X) of SETX that was identified by exome sequencing. The family was previously reported as early-onset ataxia of undetermined cause. The present study emphasized the role of whole exome-sequence analysis to establish the molecular diagnosis of neurodegenerative disease presenting with diverse clinical presentations. | ||
| 700 | 1 | |a Ishiura, Hiroyuki |4 oth | |
| 700 | 1 | |a Mitsui, Jun |4 oth | |
| 700 | 1 | |a Takahashi, Yuji |4 oth | |
| 700 | 1 | |a Kobayashi, Shunsuke |4 oth | |
| 700 | 1 | |a Takuma, Hiroshi |4 oth | |
| 700 | 1 | |a Kanazawa, Ichiro |4 oth | |
| 700 | 1 | |a Doi, Koichiro |4 oth | |
| 700 | 1 | |a Yoshimura, Jun |4 oth | |
| 700 | 1 | |a Morishita, Shinichi |4 oth | |
| 700 | 1 | |a Goto, Jun |4 oth | |
| 700 | 1 | |a Tsuji, Shoji |4 oth | |
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10.1016/j.jns.2013.05.018 doi GBVA2013021000015.pica (DE-627)ELV011930578 (ELSEVIER)S0022-510X(13)00225-6 DE-627 ger DE-627 rakwb eng 610 610 DE-600 540 VZ 35.10 bkl Ichikawa, Yaeko verfasserin aut Exome analysis reveals a Japanese family with spinocerebellar ataxia, autosomal recessive 1 2013transfer abstract 3 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Spinocerebellar ataxia autosomal recessive 1 (SCAR1/AOA2) is clinically characterized by an early-onset progressive cerebellar ataxia with axonal neuropathy, ocular motor apraxia, and elevation of serum alpha-fetoprotein level. The disorder is caused by mutations in senataxin (SETX) gene. Here, we report a Japanese SCAR1/AOA2 family with a homozygous nonsense mutation (p.Q1441X) of SETX that was identified by exome sequencing. The family was previously reported as early-onset ataxia of undetermined cause. The present study emphasized the role of whole exome-sequence analysis to establish the molecular diagnosis of neurodegenerative disease presenting with diverse clinical presentations. Spinocerebellar ataxia autosomal recessive 1 (SCAR1/AOA2) is clinically characterized by an early-onset progressive cerebellar ataxia with axonal neuropathy, ocular motor apraxia, and elevation of serum alpha-fetoprotein level. The disorder is caused by mutations in senataxin (SETX) gene. Here, we report a Japanese SCAR1/AOA2 family with a homozygous nonsense mutation (p.Q1441X) of SETX that was identified by exome sequencing. The family was previously reported as early-onset ataxia of undetermined cause. The present study emphasized the role of whole exome-sequence analysis to establish the molecular diagnosis of neurodegenerative disease presenting with diverse clinical presentations. Ishiura, Hiroyuki oth Mitsui, Jun oth Takahashi, Yuji oth Kobayashi, Shunsuke oth Takuma, Hiroshi oth Kanazawa, Ichiro oth Doi, Koichiro oth Yoshimura, Jun oth Morishita, Shinichi oth Goto, Jun oth Tsuji, Shoji 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:331 year:2013 number:1 day:15 month:08 pages:158-160 extent:3 https://doi.org/10.1016/j.jns.2013.05.018 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 35.10 Physikalische Chemie: Allgemeines VZ AR 331 2013 1 15 0815 158-160 3 045F 610 |
| spelling |
10.1016/j.jns.2013.05.018 doi GBVA2013021000015.pica (DE-627)ELV011930578 (ELSEVIER)S0022-510X(13)00225-6 DE-627 ger DE-627 rakwb eng 610 610 DE-600 540 VZ 35.10 bkl Ichikawa, Yaeko verfasserin aut Exome analysis reveals a Japanese family with spinocerebellar ataxia, autosomal recessive 1 2013transfer abstract 3 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Spinocerebellar ataxia autosomal recessive 1 (SCAR1/AOA2) is clinically characterized by an early-onset progressive cerebellar ataxia with axonal neuropathy, ocular motor apraxia, and elevation of serum alpha-fetoprotein level. The disorder is caused by mutations in senataxin (SETX) gene. Here, we report a Japanese SCAR1/AOA2 family with a homozygous nonsense mutation (p.Q1441X) of SETX that was identified by exome sequencing. The family was previously reported as early-onset ataxia of undetermined cause. The present study emphasized the role of whole exome-sequence analysis to establish the molecular diagnosis of neurodegenerative disease presenting with diverse clinical presentations. Spinocerebellar ataxia autosomal recessive 1 (SCAR1/AOA2) is clinically characterized by an early-onset progressive cerebellar ataxia with axonal neuropathy, ocular motor apraxia, and elevation of serum alpha-fetoprotein level. The disorder is caused by mutations in senataxin (SETX) gene. Here, we report a Japanese SCAR1/AOA2 family with a homozygous nonsense mutation (p.Q1441X) of SETX that was identified by exome sequencing. The family was previously reported as early-onset ataxia of undetermined cause. The present study emphasized the role of whole exome-sequence analysis to establish the molecular diagnosis of neurodegenerative disease presenting with diverse clinical presentations. Ishiura, Hiroyuki oth Mitsui, Jun oth Takahashi, Yuji oth Kobayashi, Shunsuke oth Takuma, Hiroshi oth Kanazawa, Ichiro oth Doi, Koichiro oth Yoshimura, Jun oth Morishita, Shinichi oth Goto, Jun oth Tsuji, Shoji 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:331 year:2013 number:1 day:15 month:08 pages:158-160 extent:3 https://doi.org/10.1016/j.jns.2013.05.018 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 35.10 Physikalische Chemie: Allgemeines VZ AR 331 2013 1 15 0815 158-160 3 045F 610 |
| allfields_unstemmed |
10.1016/j.jns.2013.05.018 doi GBVA2013021000015.pica (DE-627)ELV011930578 (ELSEVIER)S0022-510X(13)00225-6 DE-627 ger DE-627 rakwb eng 610 610 DE-600 540 VZ 35.10 bkl Ichikawa, Yaeko verfasserin aut Exome analysis reveals a Japanese family with spinocerebellar ataxia, autosomal recessive 1 2013transfer abstract 3 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Spinocerebellar ataxia autosomal recessive 1 (SCAR1/AOA2) is clinically characterized by an early-onset progressive cerebellar ataxia with axonal neuropathy, ocular motor apraxia, and elevation of serum alpha-fetoprotein level. The disorder is caused by mutations in senataxin (SETX) gene. Here, we report a Japanese SCAR1/AOA2 family with a homozygous nonsense mutation (p.Q1441X) of SETX that was identified by exome sequencing. The family was previously reported as early-onset ataxia of undetermined cause. The present study emphasized the role of whole exome-sequence analysis to establish the molecular diagnosis of neurodegenerative disease presenting with diverse clinical presentations. Spinocerebellar ataxia autosomal recessive 1 (SCAR1/AOA2) is clinically characterized by an early-onset progressive cerebellar ataxia with axonal neuropathy, ocular motor apraxia, and elevation of serum alpha-fetoprotein level. The disorder is caused by mutations in senataxin (SETX) gene. Here, we report a Japanese SCAR1/AOA2 family with a homozygous nonsense mutation (p.Q1441X) of SETX that was identified by exome sequencing. The family was previously reported as early-onset ataxia of undetermined cause. The present study emphasized the role of whole exome-sequence analysis to establish the molecular diagnosis of neurodegenerative disease presenting with diverse clinical presentations. Ishiura, Hiroyuki oth Mitsui, Jun oth Takahashi, Yuji oth Kobayashi, Shunsuke oth Takuma, Hiroshi oth Kanazawa, Ichiro oth Doi, Koichiro oth Yoshimura, Jun oth Morishita, Shinichi oth Goto, Jun oth Tsuji, Shoji 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:331 year:2013 number:1 day:15 month:08 pages:158-160 extent:3 https://doi.org/10.1016/j.jns.2013.05.018 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 35.10 Physikalische Chemie: Allgemeines VZ AR 331 2013 1 15 0815 158-160 3 045F 610 |
| allfieldsGer |
10.1016/j.jns.2013.05.018 doi GBVA2013021000015.pica (DE-627)ELV011930578 (ELSEVIER)S0022-510X(13)00225-6 DE-627 ger DE-627 rakwb eng 610 610 DE-600 540 VZ 35.10 bkl Ichikawa, Yaeko verfasserin aut Exome analysis reveals a Japanese family with spinocerebellar ataxia, autosomal recessive 1 2013transfer abstract 3 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Spinocerebellar ataxia autosomal recessive 1 (SCAR1/AOA2) is clinically characterized by an early-onset progressive cerebellar ataxia with axonal neuropathy, ocular motor apraxia, and elevation of serum alpha-fetoprotein level. The disorder is caused by mutations in senataxin (SETX) gene. Here, we report a Japanese SCAR1/AOA2 family with a homozygous nonsense mutation (p.Q1441X) of SETX that was identified by exome sequencing. The family was previously reported as early-onset ataxia of undetermined cause. The present study emphasized the role of whole exome-sequence analysis to establish the molecular diagnosis of neurodegenerative disease presenting with diverse clinical presentations. Spinocerebellar ataxia autosomal recessive 1 (SCAR1/AOA2) is clinically characterized by an early-onset progressive cerebellar ataxia with axonal neuropathy, ocular motor apraxia, and elevation of serum alpha-fetoprotein level. The disorder is caused by mutations in senataxin (SETX) gene. Here, we report a Japanese SCAR1/AOA2 family with a homozygous nonsense mutation (p.Q1441X) of SETX that was identified by exome sequencing. The family was previously reported as early-onset ataxia of undetermined cause. The present study emphasized the role of whole exome-sequence analysis to establish the molecular diagnosis of neurodegenerative disease presenting with diverse clinical presentations. Ishiura, Hiroyuki oth Mitsui, Jun oth Takahashi, Yuji oth Kobayashi, Shunsuke oth Takuma, Hiroshi oth Kanazawa, Ichiro oth Doi, Koichiro oth Yoshimura, Jun oth Morishita, Shinichi oth Goto, Jun oth Tsuji, Shoji 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:331 year:2013 number:1 day:15 month:08 pages:158-160 extent:3 https://doi.org/10.1016/j.jns.2013.05.018 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 35.10 Physikalische Chemie: Allgemeines VZ AR 331 2013 1 15 0815 158-160 3 045F 610 |
| allfieldsSound |
10.1016/j.jns.2013.05.018 doi GBVA2013021000015.pica (DE-627)ELV011930578 (ELSEVIER)S0022-510X(13)00225-6 DE-627 ger DE-627 rakwb eng 610 610 DE-600 540 VZ 35.10 bkl Ichikawa, Yaeko verfasserin aut Exome analysis reveals a Japanese family with spinocerebellar ataxia, autosomal recessive 1 2013transfer abstract 3 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Spinocerebellar ataxia autosomal recessive 1 (SCAR1/AOA2) is clinically characterized by an early-onset progressive cerebellar ataxia with axonal neuropathy, ocular motor apraxia, and elevation of serum alpha-fetoprotein level. The disorder is caused by mutations in senataxin (SETX) gene. Here, we report a Japanese SCAR1/AOA2 family with a homozygous nonsense mutation (p.Q1441X) of SETX that was identified by exome sequencing. The family was previously reported as early-onset ataxia of undetermined cause. The present study emphasized the role of whole exome-sequence analysis to establish the molecular diagnosis of neurodegenerative disease presenting with diverse clinical presentations. Spinocerebellar ataxia autosomal recessive 1 (SCAR1/AOA2) is clinically characterized by an early-onset progressive cerebellar ataxia with axonal neuropathy, ocular motor apraxia, and elevation of serum alpha-fetoprotein level. The disorder is caused by mutations in senataxin (SETX) gene. Here, we report a Japanese SCAR1/AOA2 family with a homozygous nonsense mutation (p.Q1441X) of SETX that was identified by exome sequencing. The family was previously reported as early-onset ataxia of undetermined cause. The present study emphasized the role of whole exome-sequence analysis to establish the molecular diagnosis of neurodegenerative disease presenting with diverse clinical presentations. Ishiura, Hiroyuki oth Mitsui, Jun oth Takahashi, Yuji oth Kobayashi, Shunsuke oth Takuma, Hiroshi oth Kanazawa, Ichiro oth Doi, Koichiro oth Yoshimura, Jun oth Morishita, Shinichi oth Goto, Jun oth Tsuji, Shoji 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:331 year:2013 number:1 day:15 month:08 pages:158-160 extent:3 https://doi.org/10.1016/j.jns.2013.05.018 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 35.10 Physikalische Chemie: Allgemeines VZ AR 331 2013 1 15 0815 158-160 3 045F 610 |
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Enthalten in A new global analytical potential energy surface of NaH Amsterdam [u.a.] volume:331 year:2013 number:1 day:15 month:08 pages:158-160 extent:3 |
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A new global analytical potential energy surface of NaH |
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Ichikawa, Yaeko @@aut@@ Ishiura, Hiroyuki @@oth@@ Mitsui, Jun @@oth@@ Takahashi, Yuji @@oth@@ Kobayashi, Shunsuke @@oth@@ Takuma, Hiroshi @@oth@@ Kanazawa, Ichiro @@oth@@ Doi, Koichiro @@oth@@ Yoshimura, Jun @@oth@@ Morishita, Shinichi @@oth@@ Goto, Jun @@oth@@ Tsuji, Shoji @@oth@@ |
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exome analysis reveals a japanese family with spinocerebellar ataxia, autosomal recessive 1 |
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Exome analysis reveals a Japanese family with spinocerebellar ataxia, autosomal recessive 1 |
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Spinocerebellar ataxia autosomal recessive 1 (SCAR1/AOA2) is clinically characterized by an early-onset progressive cerebellar ataxia with axonal neuropathy, ocular motor apraxia, and elevation of serum alpha-fetoprotein level. The disorder is caused by mutations in senataxin (SETX) gene. Here, we report a Japanese SCAR1/AOA2 family with a homozygous nonsense mutation (p.Q1441X) of SETX that was identified by exome sequencing. The family was previously reported as early-onset ataxia of undetermined cause. The present study emphasized the role of whole exome-sequence analysis to establish the molecular diagnosis of neurodegenerative disease presenting with diverse clinical presentations. |
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Spinocerebellar ataxia autosomal recessive 1 (SCAR1/AOA2) is clinically characterized by an early-onset progressive cerebellar ataxia with axonal neuropathy, ocular motor apraxia, and elevation of serum alpha-fetoprotein level. The disorder is caused by mutations in senataxin (SETX) gene. Here, we report a Japanese SCAR1/AOA2 family with a homozygous nonsense mutation (p.Q1441X) of SETX that was identified by exome sequencing. The family was previously reported as early-onset ataxia of undetermined cause. The present study emphasized the role of whole exome-sequence analysis to establish the molecular diagnosis of neurodegenerative disease presenting with diverse clinical presentations. |
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Spinocerebellar ataxia autosomal recessive 1 (SCAR1/AOA2) is clinically characterized by an early-onset progressive cerebellar ataxia with axonal neuropathy, ocular motor apraxia, and elevation of serum alpha-fetoprotein level. The disorder is caused by mutations in senataxin (SETX) gene. Here, we report a Japanese SCAR1/AOA2 family with a homozygous nonsense mutation (p.Q1441X) of SETX that was identified by exome sequencing. The family was previously reported as early-onset ataxia of undetermined cause. The present study emphasized the role of whole exome-sequence analysis to establish the molecular diagnosis of neurodegenerative disease presenting with diverse clinical presentations. |
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