New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP)
Abstract The hereditary spastic paraplegias (HSP) are a heterogeneous group of conditions in which the main feature is a progressive spastic paraparesis. Mutations in the receptor expression enhancing protein 1 (REEP1) gene have recently been reported to be associated with an autosomal dominant HSP...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Hewamadduma, Channa [verfasserIn] McDermott, Christopher [verfasserIn] Kirby, Janine [verfasserIn] Grierson, Andrew [verfasserIn] Panayi, Maria [verfasserIn] Dalton, Ann [verfasserIn] Rajabally, Yusuuf [verfasserIn] Shaw, Pamela [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2008 |
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| Schlagwörter: |
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| Übergeordnetes Werk: |
Enthalten in: Neurogenetics - Springer-Verlag, 2001, 10(2008), 2 vom: 26. Nov. |
|---|---|
| Übergeordnetes Werk: |
volume:10 ; year:2008 ; number:2 ; day:26 ; month:11 |
| Links: |
|---|
| DOI / URN: |
10.1007/s10048-008-0163-z |
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SPR008231109 |
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| 245 | 1 | 0 | |a New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP) |
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| 520 | |a Abstract The hereditary spastic paraplegias (HSP) are a heterogeneous group of conditions in which the main feature is a progressive spastic paraparesis. Mutations in the receptor expression enhancing protein 1 (REEP1) gene have recently been reported to be associated with an autosomal dominant HSP phenotype (SPG31). The objective of this study was to identify the frequency of REEP1 mutations in both autosomal dominant HSP (ADHSP) and sporadic spastic paraparesis (SSP) cases and to analyse the genotype/phenotype correlation of mutations so far described in REEP1. One hundred thirty-three index cases from large ADHSP pedigrees and 80 SSP cases were screened for mutation in REEP1 by direct sequencing. Three mutations were identified in REEP1 in the ADHSP group. A novel nonsense mutation in exon 5, c.[337C>T] (p.[Arg113X]), was associated with spastic paraparesis, amyotrophy and mitochondrial dysfunction. A second previously reported mutation, c.[606+43G>T], was identified in two pedigrees. The index case of one of these pedigrees had a peripheral neuropathy in association with spastic paraparesis, and the proband of the second pedigree had a severe spastic tetraparesis and bulbar dysfunction. No mutations were detected in the SSP cases. We report a mutation frequency of 2.3% in REEP1 in ADHSP, suggesting REEP1 mutation is a relatively uncommon cause of ADHSP in a population of patients drawn from the UK. The phenotype of ADHSP associated with REEP1 mutation is broader than initially reported. The spastic paraparesis in SPG31 may be complicated by the presence of amyotrophy, bulbar palsy and/or peripheral neuropathy. | ||
| 650 | 4 | |a Hereditary spastic paraparesis |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a Genetic screening |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a Secretory pathway |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a Mitochondrial function |7 (dpeaa)DE-He213 | |
| 650 | 4 | |a Dying back axonopathy |7 (dpeaa)DE-He213 | |
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| 700 | 1 | |a Kirby, Janine |e verfasserin |4 aut | |
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| 700 | 1 | |a Panayi, Maria |e verfasserin |4 aut | |
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| 700 | 1 | |a Rajabally, Yusuuf |e verfasserin |4 aut | |
| 700 | 1 | |a Shaw, Pamela |e verfasserin |4 aut | |
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10.1007/s10048-008-0163-z doi (DE-627)SPR008231109 (SPR)s10048-008-0163-z-e DE-627 ger DE-627 rakwb eng Hewamadduma, Channa verfasserin aut New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP) 2008 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract The hereditary spastic paraplegias (HSP) are a heterogeneous group of conditions in which the main feature is a progressive spastic paraparesis. Mutations in the receptor expression enhancing protein 1 (REEP1) gene have recently been reported to be associated with an autosomal dominant HSP phenotype (SPG31). The objective of this study was to identify the frequency of REEP1 mutations in both autosomal dominant HSP (ADHSP) and sporadic spastic paraparesis (SSP) cases and to analyse the genotype/phenotype correlation of mutations so far described in REEP1. One hundred thirty-three index cases from large ADHSP pedigrees and 80 SSP cases were screened for mutation in REEP1 by direct sequencing. Three mutations were identified in REEP1 in the ADHSP group. A novel nonsense mutation in exon 5, c.[337C>T] (p.[Arg113X]), was associated with spastic paraparesis, amyotrophy and mitochondrial dysfunction. A second previously reported mutation, c.[606+43G>T], was identified in two pedigrees. The index case of one of these pedigrees had a peripheral neuropathy in association with spastic paraparesis, and the proband of the second pedigree had a severe spastic tetraparesis and bulbar dysfunction. No mutations were detected in the SSP cases. We report a mutation frequency of 2.3% in REEP1 in ADHSP, suggesting REEP1 mutation is a relatively uncommon cause of ADHSP in a population of patients drawn from the UK. The phenotype of ADHSP associated with REEP1 mutation is broader than initially reported. The spastic paraparesis in SPG31 may be complicated by the presence of amyotrophy, bulbar palsy and/or peripheral neuropathy. Hereditary spastic paraparesis (dpeaa)DE-He213 Genetic screening (dpeaa)DE-He213 Secretory pathway (dpeaa)DE-He213 Mitochondrial function (dpeaa)DE-He213 Dying back axonopathy (dpeaa)DE-He213 McDermott, Christopher verfasserin aut Kirby, Janine verfasserin aut Grierson, Andrew verfasserin aut Panayi, Maria verfasserin aut Dalton, Ann verfasserin aut Rajabally, Yusuuf verfasserin aut Shaw, Pamela verfasserin aut Enthalten in Neurogenetics Springer-Verlag, 2001 10(2008), 2 vom: 26. Nov. (DE-627)SPR00822823X nnns volume:10 year:2008 number:2 day:26 month:11 https://dx.doi.org/10.1007/s10048-008-0163-z lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER AR 10 2008 2 26 11 |
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10.1007/s10048-008-0163-z doi (DE-627)SPR008231109 (SPR)s10048-008-0163-z-e DE-627 ger DE-627 rakwb eng Hewamadduma, Channa verfasserin aut New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP) 2008 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract The hereditary spastic paraplegias (HSP) are a heterogeneous group of conditions in which the main feature is a progressive spastic paraparesis. Mutations in the receptor expression enhancing protein 1 (REEP1) gene have recently been reported to be associated with an autosomal dominant HSP phenotype (SPG31). The objective of this study was to identify the frequency of REEP1 mutations in both autosomal dominant HSP (ADHSP) and sporadic spastic paraparesis (SSP) cases and to analyse the genotype/phenotype correlation of mutations so far described in REEP1. One hundred thirty-three index cases from large ADHSP pedigrees and 80 SSP cases were screened for mutation in REEP1 by direct sequencing. Three mutations were identified in REEP1 in the ADHSP group. A novel nonsense mutation in exon 5, c.[337C>T] (p.[Arg113X]), was associated with spastic paraparesis, amyotrophy and mitochondrial dysfunction. A second previously reported mutation, c.[606+43G>T], was identified in two pedigrees. The index case of one of these pedigrees had a peripheral neuropathy in association with spastic paraparesis, and the proband of the second pedigree had a severe spastic tetraparesis and bulbar dysfunction. No mutations were detected in the SSP cases. We report a mutation frequency of 2.3% in REEP1 in ADHSP, suggesting REEP1 mutation is a relatively uncommon cause of ADHSP in a population of patients drawn from the UK. The phenotype of ADHSP associated with REEP1 mutation is broader than initially reported. The spastic paraparesis in SPG31 may be complicated by the presence of amyotrophy, bulbar palsy and/or peripheral neuropathy. Hereditary spastic paraparesis (dpeaa)DE-He213 Genetic screening (dpeaa)DE-He213 Secretory pathway (dpeaa)DE-He213 Mitochondrial function (dpeaa)DE-He213 Dying back axonopathy (dpeaa)DE-He213 McDermott, Christopher verfasserin aut Kirby, Janine verfasserin aut Grierson, Andrew verfasserin aut Panayi, Maria verfasserin aut Dalton, Ann verfasserin aut Rajabally, Yusuuf verfasserin aut Shaw, Pamela verfasserin aut Enthalten in Neurogenetics Springer-Verlag, 2001 10(2008), 2 vom: 26. Nov. (DE-627)SPR00822823X nnns volume:10 year:2008 number:2 day:26 month:11 https://dx.doi.org/10.1007/s10048-008-0163-z lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER AR 10 2008 2 26 11 |
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10.1007/s10048-008-0163-z doi (DE-627)SPR008231109 (SPR)s10048-008-0163-z-e DE-627 ger DE-627 rakwb eng Hewamadduma, Channa verfasserin aut New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP) 2008 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract The hereditary spastic paraplegias (HSP) are a heterogeneous group of conditions in which the main feature is a progressive spastic paraparesis. Mutations in the receptor expression enhancing protein 1 (REEP1) gene have recently been reported to be associated with an autosomal dominant HSP phenotype (SPG31). The objective of this study was to identify the frequency of REEP1 mutations in both autosomal dominant HSP (ADHSP) and sporadic spastic paraparesis (SSP) cases and to analyse the genotype/phenotype correlation of mutations so far described in REEP1. One hundred thirty-three index cases from large ADHSP pedigrees and 80 SSP cases were screened for mutation in REEP1 by direct sequencing. Three mutations were identified in REEP1 in the ADHSP group. A novel nonsense mutation in exon 5, c.[337C>T] (p.[Arg113X]), was associated with spastic paraparesis, amyotrophy and mitochondrial dysfunction. A second previously reported mutation, c.[606+43G>T], was identified in two pedigrees. The index case of one of these pedigrees had a peripheral neuropathy in association with spastic paraparesis, and the proband of the second pedigree had a severe spastic tetraparesis and bulbar dysfunction. No mutations were detected in the SSP cases. We report a mutation frequency of 2.3% in REEP1 in ADHSP, suggesting REEP1 mutation is a relatively uncommon cause of ADHSP in a population of patients drawn from the UK. The phenotype of ADHSP associated with REEP1 mutation is broader than initially reported. The spastic paraparesis in SPG31 may be complicated by the presence of amyotrophy, bulbar palsy and/or peripheral neuropathy. Hereditary spastic paraparesis (dpeaa)DE-He213 Genetic screening (dpeaa)DE-He213 Secretory pathway (dpeaa)DE-He213 Mitochondrial function (dpeaa)DE-He213 Dying back axonopathy (dpeaa)DE-He213 McDermott, Christopher verfasserin aut Kirby, Janine verfasserin aut Grierson, Andrew verfasserin aut Panayi, Maria verfasserin aut Dalton, Ann verfasserin aut Rajabally, Yusuuf verfasserin aut Shaw, Pamela verfasserin aut Enthalten in Neurogenetics Springer-Verlag, 2001 10(2008), 2 vom: 26. Nov. (DE-627)SPR00822823X nnns volume:10 year:2008 number:2 day:26 month:11 https://dx.doi.org/10.1007/s10048-008-0163-z lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER AR 10 2008 2 26 11 |
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10.1007/s10048-008-0163-z doi (DE-627)SPR008231109 (SPR)s10048-008-0163-z-e DE-627 ger DE-627 rakwb eng Hewamadduma, Channa verfasserin aut New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP) 2008 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract The hereditary spastic paraplegias (HSP) are a heterogeneous group of conditions in which the main feature is a progressive spastic paraparesis. Mutations in the receptor expression enhancing protein 1 (REEP1) gene have recently been reported to be associated with an autosomal dominant HSP phenotype (SPG31). The objective of this study was to identify the frequency of REEP1 mutations in both autosomal dominant HSP (ADHSP) and sporadic spastic paraparesis (SSP) cases and to analyse the genotype/phenotype correlation of mutations so far described in REEP1. One hundred thirty-three index cases from large ADHSP pedigrees and 80 SSP cases were screened for mutation in REEP1 by direct sequencing. Three mutations were identified in REEP1 in the ADHSP group. A novel nonsense mutation in exon 5, c.[337C>T] (p.[Arg113X]), was associated with spastic paraparesis, amyotrophy and mitochondrial dysfunction. A second previously reported mutation, c.[606+43G>T], was identified in two pedigrees. The index case of one of these pedigrees had a peripheral neuropathy in association with spastic paraparesis, and the proband of the second pedigree had a severe spastic tetraparesis and bulbar dysfunction. No mutations were detected in the SSP cases. We report a mutation frequency of 2.3% in REEP1 in ADHSP, suggesting REEP1 mutation is a relatively uncommon cause of ADHSP in a population of patients drawn from the UK. The phenotype of ADHSP associated with REEP1 mutation is broader than initially reported. The spastic paraparesis in SPG31 may be complicated by the presence of amyotrophy, bulbar palsy and/or peripheral neuropathy. Hereditary spastic paraparesis (dpeaa)DE-He213 Genetic screening (dpeaa)DE-He213 Secretory pathway (dpeaa)DE-He213 Mitochondrial function (dpeaa)DE-He213 Dying back axonopathy (dpeaa)DE-He213 McDermott, Christopher verfasserin aut Kirby, Janine verfasserin aut Grierson, Andrew verfasserin aut Panayi, Maria verfasserin aut Dalton, Ann verfasserin aut Rajabally, Yusuuf verfasserin aut Shaw, Pamela verfasserin aut Enthalten in Neurogenetics Springer-Verlag, 2001 10(2008), 2 vom: 26. Nov. (DE-627)SPR00822823X nnns volume:10 year:2008 number:2 day:26 month:11 https://dx.doi.org/10.1007/s10048-008-0163-z lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER AR 10 2008 2 26 11 |
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10.1007/s10048-008-0163-z doi (DE-627)SPR008231109 (SPR)s10048-008-0163-z-e DE-627 ger DE-627 rakwb eng Hewamadduma, Channa verfasserin aut New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP) 2008 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract The hereditary spastic paraplegias (HSP) are a heterogeneous group of conditions in which the main feature is a progressive spastic paraparesis. Mutations in the receptor expression enhancing protein 1 (REEP1) gene have recently been reported to be associated with an autosomal dominant HSP phenotype (SPG31). The objective of this study was to identify the frequency of REEP1 mutations in both autosomal dominant HSP (ADHSP) and sporadic spastic paraparesis (SSP) cases and to analyse the genotype/phenotype correlation of mutations so far described in REEP1. One hundred thirty-three index cases from large ADHSP pedigrees and 80 SSP cases were screened for mutation in REEP1 by direct sequencing. Three mutations were identified in REEP1 in the ADHSP group. A novel nonsense mutation in exon 5, c.[337C>T] (p.[Arg113X]), was associated with spastic paraparesis, amyotrophy and mitochondrial dysfunction. A second previously reported mutation, c.[606+43G>T], was identified in two pedigrees. The index case of one of these pedigrees had a peripheral neuropathy in association with spastic paraparesis, and the proband of the second pedigree had a severe spastic tetraparesis and bulbar dysfunction. No mutations were detected in the SSP cases. We report a mutation frequency of 2.3% in REEP1 in ADHSP, suggesting REEP1 mutation is a relatively uncommon cause of ADHSP in a population of patients drawn from the UK. The phenotype of ADHSP associated with REEP1 mutation is broader than initially reported. The spastic paraparesis in SPG31 may be complicated by the presence of amyotrophy, bulbar palsy and/or peripheral neuropathy. Hereditary spastic paraparesis (dpeaa)DE-He213 Genetic screening (dpeaa)DE-He213 Secretory pathway (dpeaa)DE-He213 Mitochondrial function (dpeaa)DE-He213 Dying back axonopathy (dpeaa)DE-He213 McDermott, Christopher verfasserin aut Kirby, Janine verfasserin aut Grierson, Andrew verfasserin aut Panayi, Maria verfasserin aut Dalton, Ann verfasserin aut Rajabally, Yusuuf verfasserin aut Shaw, Pamela verfasserin aut Enthalten in Neurogenetics Springer-Verlag, 2001 10(2008), 2 vom: 26. Nov. (DE-627)SPR00822823X nnns volume:10 year:2008 number:2 day:26 month:11 https://dx.doi.org/10.1007/s10048-008-0163-z lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER AR 10 2008 2 26 11 |
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Enthalten in Neurogenetics 10(2008), 2 vom: 26. Nov. volume:10 year:2008 number:2 day:26 month:11 |
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Hewamadduma, Channa |
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Hewamadduma, Channa misc Hereditary spastic paraparesis misc Genetic screening misc Secretory pathway misc Mitochondrial function misc Dying back axonopathy New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP) |
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New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP) Hereditary spastic paraparesis (dpeaa)DE-He213 Genetic screening (dpeaa)DE-He213 Secretory pathway (dpeaa)DE-He213 Mitochondrial function (dpeaa)DE-He213 Dying back axonopathy (dpeaa)DE-He213 |
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misc Hereditary spastic paraparesis misc Genetic screening misc Secretory pathway misc Mitochondrial function misc Dying back axonopathy |
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misc Hereditary spastic paraparesis misc Genetic screening misc Secretory pathway misc Mitochondrial function misc Dying back axonopathy |
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New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP) |
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New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP) |
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Hewamadduma, Channa |
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Neurogenetics |
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Hewamadduma, Channa McDermott, Christopher Kirby, Janine Grierson, Andrew Panayi, Maria Dalton, Ann Rajabally, Yusuuf Shaw, Pamela |
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new pedigrees and novel mutation expand the phenotype of reep1-associated hereditary spastic paraplegia (hsp) |
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New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP) |
| abstract |
Abstract The hereditary spastic paraplegias (HSP) are a heterogeneous group of conditions in which the main feature is a progressive spastic paraparesis. Mutations in the receptor expression enhancing protein 1 (REEP1) gene have recently been reported to be associated with an autosomal dominant HSP phenotype (SPG31). The objective of this study was to identify the frequency of REEP1 mutations in both autosomal dominant HSP (ADHSP) and sporadic spastic paraparesis (SSP) cases and to analyse the genotype/phenotype correlation of mutations so far described in REEP1. One hundred thirty-three index cases from large ADHSP pedigrees and 80 SSP cases were screened for mutation in REEP1 by direct sequencing. Three mutations were identified in REEP1 in the ADHSP group. A novel nonsense mutation in exon 5, c.[337C>T] (p.[Arg113X]), was associated with spastic paraparesis, amyotrophy and mitochondrial dysfunction. A second previously reported mutation, c.[606+43G>T], was identified in two pedigrees. The index case of one of these pedigrees had a peripheral neuropathy in association with spastic paraparesis, and the proband of the second pedigree had a severe spastic tetraparesis and bulbar dysfunction. No mutations were detected in the SSP cases. We report a mutation frequency of 2.3% in REEP1 in ADHSP, suggesting REEP1 mutation is a relatively uncommon cause of ADHSP in a population of patients drawn from the UK. The phenotype of ADHSP associated with REEP1 mutation is broader than initially reported. The spastic paraparesis in SPG31 may be complicated by the presence of amyotrophy, bulbar palsy and/or peripheral neuropathy. |
| abstractGer |
Abstract The hereditary spastic paraplegias (HSP) are a heterogeneous group of conditions in which the main feature is a progressive spastic paraparesis. Mutations in the receptor expression enhancing protein 1 (REEP1) gene have recently been reported to be associated with an autosomal dominant HSP phenotype (SPG31). The objective of this study was to identify the frequency of REEP1 mutations in both autosomal dominant HSP (ADHSP) and sporadic spastic paraparesis (SSP) cases and to analyse the genotype/phenotype correlation of mutations so far described in REEP1. One hundred thirty-three index cases from large ADHSP pedigrees and 80 SSP cases were screened for mutation in REEP1 by direct sequencing. Three mutations were identified in REEP1 in the ADHSP group. A novel nonsense mutation in exon 5, c.[337C>T] (p.[Arg113X]), was associated with spastic paraparesis, amyotrophy and mitochondrial dysfunction. A second previously reported mutation, c.[606+43G>T], was identified in two pedigrees. The index case of one of these pedigrees had a peripheral neuropathy in association with spastic paraparesis, and the proband of the second pedigree had a severe spastic tetraparesis and bulbar dysfunction. No mutations were detected in the SSP cases. We report a mutation frequency of 2.3% in REEP1 in ADHSP, suggesting REEP1 mutation is a relatively uncommon cause of ADHSP in a population of patients drawn from the UK. The phenotype of ADHSP associated with REEP1 mutation is broader than initially reported. The spastic paraparesis in SPG31 may be complicated by the presence of amyotrophy, bulbar palsy and/or peripheral neuropathy. |
| abstract_unstemmed |
Abstract The hereditary spastic paraplegias (HSP) are a heterogeneous group of conditions in which the main feature is a progressive spastic paraparesis. Mutations in the receptor expression enhancing protein 1 (REEP1) gene have recently been reported to be associated with an autosomal dominant HSP phenotype (SPG31). The objective of this study was to identify the frequency of REEP1 mutations in both autosomal dominant HSP (ADHSP) and sporadic spastic paraparesis (SSP) cases and to analyse the genotype/phenotype correlation of mutations so far described in REEP1. One hundred thirty-three index cases from large ADHSP pedigrees and 80 SSP cases were screened for mutation in REEP1 by direct sequencing. Three mutations were identified in REEP1 in the ADHSP group. A novel nonsense mutation in exon 5, c.[337C>T] (p.[Arg113X]), was associated with spastic paraparesis, amyotrophy and mitochondrial dysfunction. A second previously reported mutation, c.[606+43G>T], was identified in two pedigrees. The index case of one of these pedigrees had a peripheral neuropathy in association with spastic paraparesis, and the proband of the second pedigree had a severe spastic tetraparesis and bulbar dysfunction. No mutations were detected in the SSP cases. We report a mutation frequency of 2.3% in REEP1 in ADHSP, suggesting REEP1 mutation is a relatively uncommon cause of ADHSP in a population of patients drawn from the UK. The phenotype of ADHSP associated with REEP1 mutation is broader than initially reported. The spastic paraparesis in SPG31 may be complicated by the presence of amyotrophy, bulbar palsy and/or peripheral neuropathy. |
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| title_short |
New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP) |
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https://dx.doi.org/10.1007/s10048-008-0163-z |
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McDermott, Christopher Kirby, Janine Grierson, Andrew Panayi, Maria Dalton, Ann Rajabally, Yusuuf Shaw, Pamela |
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