SCA14 in Norway, two families with autosomal dominant cerebellar ataxia and a novel mutation in the PRKCG gene
Koht J, Stevanin G, Durr A, Mundwiller E, Brice A, Tallaksen CME. SCA14 in Norway, two families with autosomal dominant cerebellar ataxia and a novel mutation in the PRKCG gene. Acta Neurol Scand: 2012: 125: 116–122. © 2011 John Wiley & Sons A/S. Objectives – Despite a similar prevalence of a...
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| Published in | Acta neurologica Scandinavica Vol. 125; no. 2; pp. 116 - 122 |
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| Main Authors | , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
Oxford, UK
Blackwell Publishing Ltd
01.02.2012
Blackwell |
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| Abstract | Koht J, Stevanin G, Durr A, Mundwiller E, Brice A, Tallaksen CME. SCA14 in Norway, two families with autosomal dominant cerebellar ataxia and a novel mutation in the PRKCG gene.
Acta Neurol Scand: 2012: 125: 116–122.
© 2011 John Wiley & Sons A/S.
Objectives – Despite a similar prevalence of autosomal dominant cerebellar ataxia (ADCA) in Norway compared to other European countries, less than 10% of the families are explained by the CAG trinucleotide expansions. We wanted to find the occurence of SCA14 in the dominant ataxia population and describe the phenotype.
Methods – We screened a large dominant cerebellar ataxia cohort for mutations in the PRKCG gene. Patients were evaluated according to a standard clinical protocol for ataxia patients.
Results – A novel mutation was found in two families, a C to A transversion altering Histidine to a Glutamine at codon 139, located in a highly concerved region in the gene. It completely co‐segregated with the affected family members and was not seen in 576 control chromosomes. Genetic analysis revealed common alleles at three microsatellite markers between these two families suggesting a shared ancestral chromosome. Affected subjects displayed a mild, slowly progressive cerebellar syndrome that included gait and limb ataxia and saccadic pursuit and head tremor in one. Age at onset ranged from 10 to 45 years.
Conclusions – These are the first families with SCA14 reported from Scandinavia and a new mutation in the PRKCG gene. The occurrence in the Norwegian dominant ataxia cohort is 3.5%. |
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| AbstractList | Despite a similar prevalence of autosomal dominant cerebellar ataxia (ADCA) in Norway compared to other European countries, less than 10% of the families are explained by the CAG trinucleotide expansions. We wanted to find the occurence of SCA14 in the dominant ataxia population and describe the phenotype.
We screened a large dominant cerebellar ataxia cohort for mutations in the PRKCG gene. Patients were evaluated according to a standard clinical protocol for ataxia patients.
A novel mutation was found in two families, a C to A transversion altering Histidine to a Glutamine at codon 139, located in a highly concerved region in the gene. It completely co-segregated with the affected family members and was not seen in 576 control chromosomes. Genetic analysis revealed common alleles at three microsatellite markers between these two families suggesting a shared ancestral chromosome. Affected subjects displayed a mild, slowly progressive cerebellar syndrome that included gait and limb ataxia and saccadic pursuit and head tremor in one. Age at onset ranged from 10 to 45 years.
These are the first families with SCA14 reported from Scandinavia and a new mutation in the PRKCG gene. The occurrence in the Norwegian dominant ataxia cohort is 3.5%. Koht J, Stevanin G, Durr A, Mundwiller E, Brice A, Tallaksen CME. SCA14 in Norway, two families with autosomal dominant cerebellar ataxia and a novel mutation in the PRKCG gene. Acta Neurol Scand: 2012: 125: 116-122. [copy 2011 John Wiley & Sons A/S. Objectives- Despite a similar prevalence of autosomal dominant cerebellar ataxia (ADCA) in Norway compared to other European countries, less than 10% of the families are explained by the CAG trinucleotide expansions. We wanted to find the occurence of SCA14 in the dominant ataxia population and describe the phenotype. Methods- We screened a large dominant cerebellar ataxia cohort for mutations in the PRKCG gene. Patients were evaluated according to a standard clinical protocol for ataxia patients. Results- A novel mutation was found in two families, a C to A transversion altering Histidine to a Glutamine at codon 139, located in a highly concerved region in the gene. It completely co-segregated with the affected family members and was not seen in 576 control chromosomes. Genetic analysis revealed common alleles at three microsatellite markers between these two families suggesting a shared ancestral chromosome. Affected subjects displayed a mild, slowly progressive cerebellar syndrome that included gait and limb ataxia and saccadic pursuit and head tremor in one. Age at onset ranged from 10 to 45years. Conclusions- These are the first families with SCA14 reported from Scandinavia and a new mutation in the PRKCG gene. The occurrence in the Norwegian dominant ataxia cohort is 3.5%. Koht J, Stevanin G, Durr A, Mundwiller E, Brice A, Tallaksen CME. SCA14 in Norway, two families with autosomal dominant cerebellar ataxia and a novel mutation in the PRKCG gene. Acta Neurol Scand: 2012: 125: 116–122. © 2011 John Wiley & Sons A/S. Objectives – Despite a similar prevalence of autosomal dominant cerebellar ataxia (ADCA) in Norway compared to other European countries, less than 10% of the families are explained by the CAG trinucleotide expansions. We wanted to find the occurence of SCA14 in the dominant ataxia population and describe the phenotype. Methods – We screened a large dominant cerebellar ataxia cohort for mutations in the PRKCG gene. Patients were evaluated according to a standard clinical protocol for ataxia patients. Results – A novel mutation was found in two families, a C to A transversion altering Histidine to a Glutamine at codon 139, located in a highly concerved region in the gene. It completely co‐segregated with the affected family members and was not seen in 576 control chromosomes. Genetic analysis revealed common alleles at three microsatellite markers between these two families suggesting a shared ancestral chromosome. Affected subjects displayed a mild, slowly progressive cerebellar syndrome that included gait and limb ataxia and saccadic pursuit and head tremor in one. Age at onset ranged from 10 to 45 years. Conclusions – These are the first families with SCA14 reported from Scandinavia and a new mutation in the PRKCG gene. The occurrence in the Norwegian dominant ataxia cohort is 3.5%. Despite a similar prevalence of autosomal dominant cerebellar ataxia (ADCA) in Norway compared to other European countries, less than 10% of the families are explained by the CAG trinucleotide expansions. We wanted to find the occurence of SCA14 in the dominant ataxia population and describe the phenotype.OBJECTIVESDespite a similar prevalence of autosomal dominant cerebellar ataxia (ADCA) in Norway compared to other European countries, less than 10% of the families are explained by the CAG trinucleotide expansions. We wanted to find the occurence of SCA14 in the dominant ataxia population and describe the phenotype.We screened a large dominant cerebellar ataxia cohort for mutations in the PRKCG gene. Patients were evaluated according to a standard clinical protocol for ataxia patients.METHODSWe screened a large dominant cerebellar ataxia cohort for mutations in the PRKCG gene. Patients were evaluated according to a standard clinical protocol for ataxia patients.A novel mutation was found in two families, a C to A transversion altering Histidine to a Glutamine at codon 139, located in a highly concerved region in the gene. It completely co-segregated with the affected family members and was not seen in 576 control chromosomes. Genetic analysis revealed common alleles at three microsatellite markers between these two families suggesting a shared ancestral chromosome. Affected subjects displayed a mild, slowly progressive cerebellar syndrome that included gait and limb ataxia and saccadic pursuit and head tremor in one. Age at onset ranged from 10 to 45 years.RESULTSA novel mutation was found in two families, a C to A transversion altering Histidine to a Glutamine at codon 139, located in a highly concerved region in the gene. It completely co-segregated with the affected family members and was not seen in 576 control chromosomes. Genetic analysis revealed common alleles at three microsatellite markers between these two families suggesting a shared ancestral chromosome. Affected subjects displayed a mild, slowly progressive cerebellar syndrome that included gait and limb ataxia and saccadic pursuit and head tremor in one. Age at onset ranged from 10 to 45 years.These are the first families with SCA14 reported from Scandinavia and a new mutation in the PRKCG gene. The occurrence in the Norwegian dominant ataxia cohort is 3.5%.CONCLUSIONSThese are the first families with SCA14 reported from Scandinavia and a new mutation in the PRKCG gene. The occurrence in the Norwegian dominant ataxia cohort is 3.5%. |
| Author | Brice, A. Mundwiller, E. Koht, J. Stevanin, G. Tallaksen, C. M. E. Durr, A. |
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| Keywords | PRKCG SCA Nervous system diseases Gene SCA14 Cerebellar ataxia Ataxia Mutation |
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| References | Yamashita I, Sasaki H, Yabe I et al. A novel locus for dominant cerebellar ataxia (SCA14) maps to a 10.2-cM interval flanked by D19S206 and D19S605 on chromosome 19q13.4-qter. Ann Neurol 2000;48:156-63. Koht J, Erichsen AK, Stray-Pedersen A, Abdelnoor M, Tallaksen CM. Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study. Brain 2009;132:1577-88. Wieczorek S, Arning L, Gizewski ER, Alheite I, Timmann D. Benign SCA14 phenotype in a German patient associated with a missense mutation in exon 3 of the PRKCG gene. Mov Disord 2007;22:2135-6. Verbeek DS, Warrenburg BP, Hennekam FA et al. Gly118Asp is a SCA14 founder mutation in the Dutch ataxia population. Hum Genet 2005;117:88-91. Yabe I, Sasaki H, Chen DH et al. Spinocerebellar ataxia type 14 caused by a mutation in protein kinase C gamma. Arch Neurol 2003;60:1749-51. Morita H, Yoshida K, Suzuki K, Ikeda S. A Japanese case of SCA14 with the Gly128Asp mutation. J Hum Genet 2006;51:1118-21. Nolte D, Klebe S, Baron R, Deuschl G, Muller U. Codon 101 of PRKCG, a preferential mutation site in SCA14. Mov Disord 2007;22:1831-2. Netravathi M, Sathyaprabha TN, Jayalaxmi K, Datta P, Nirmala M, Pal PK. A comparative study of cardiac dysautonomia in autosomal dominant spinocerebellar ataxias and idiopathic sporadic ataxias. Acta Neurol Scand 2009;120:204-9. Hiramoto K, Kawakami H, Inoue K et al. Identification of a new family of spinocerebellar ataxia type 14 in the Japanese spinocerebellar ataxia population by the screening of PRKCG exon 4. Mov Disord 2006;21:1355-60. Stevanin G, Hahn V, Lohmann E et al. Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14. Arch Neurol 2004;61:1242-8. Verbeek DS, Knight MA, Harmison GG, Fischbeck KH, Howell BW. Protein kinase C gamma mutations in spinocerebellar ataxia 14 increase kinase activity and alter membrane targeting. Brain 2005;128:2-42. Koht J, Tallaksen CM. Cerebellar ataxia in the eastern and southern parts of Norway. Acta Neurol Scand 2007;187(Suppl):76-9. Chen DH, Cimino PJ, Ranum LP et al. The clinical and genetic spectrum of spinocerebellar ataxia 14. Neurology 2005;64:1258-60. Gudbjartsson DF, Jonasson K, Frigge ML, Kong A. Allegro, a new computer program for multipoint linkage analysis. Nat Genet 2000;25:12-3. Vlak MH, Sinke RJ, Rabelink GM, Kremer BP, Van De Warrenburg BP. Novel PRKCG/SCA14 mutation in a Dutch spinocerebellar ataxia family: expanding the phenotype. Mov Disord 2006;21:1025-8. Dalski A, Mitulla B, Burk K, Schattenfroh C, Schwinger E, Zuhlke C. Mutation of the highly conserved cysteine residue 131 of the SCA14 associated PRKCG gene in a family with slow progressive cerebellar ataxia. J Neurol 2006;253:1111-2. Klebe S, Faivre L, Forlani S et al. Another mutation in cysteine 131 in protein kinase C gamma as a cause of spinocerebellar ataxia type 14. Arch Neurol 2007;64:913-4. Newton AC. Protein kinase C: structure, function, and regulation. J Biol Chem 1995;270:28495-8. Chen DH, Brkanac Z, Verlinde CL et al. Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia. Am J Hum Genet 2003;72:839-49. Adachi N, Kobayashi T, Takahashi H et al. Enzymological analysis of mutant protein kinase Cgamma causing spinocerebellar ataxia type 14 and dysfunction in Ca2+ homeostasis. J Biol Chem 2008;283:19854-63. Klebe S, Durr A, Rentschler A et al. New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14. Ann Neurol 2005;58:720-9. Fahey MC, Knight MA, Shaw JH et al. Spinocerebellar ataxia type 14: study of a family with an exon 5 mutation in the PRKCG gene. J Neurol Neurosurg Psychiatry 2005;76:1720-2. Asai H, Hirano M, Shimada K et al. Protein kinase C gamma, a protein causative for dominant ataxia, negatively regulates nuclear import of recessive-ataxia-related aprataxin. Hum Mol Genet 2009;18:3533-43. Schmitz-Hubsch T, Tezenas Du MS, Baliko L et al. Reliability and validity of the International Cooperative Ataxia Rating Scale: a study in 156 spinocerebellar ataxia patients. Mov Disord 2006;21:699-704. Van De Warrenburg BP, Verbeek DS, Piersma SJ et al. Identification of a novel SCA14 mutation in a Dutch autosomal dominant cerebellar ataxia family. Neurology 2003;61:1760-5. Alonso I, Costa C, Gomes A et al. A novel H101Q mutation causes PKCgamma loss in spinocerebellar ataxia type 14. J Hum Genet 2005;50:523-9. 2004; 61 2006; 51 2000; 25 2000; 48 2006; 21 2007; 187 2005; 117 2005; 128 2009; 132 2005; 64 2006; 253 2005; 76 2005; 50 2009; 120 2007; 64 2003; 60 2003; 72 2003; 61 2007; 22 1995; 270 2008; 283 2009; 18 2005; 58 |
| References_xml | – reference: Wieczorek S, Arning L, Gizewski ER, Alheite I, Timmann D. Benign SCA14 phenotype in a German patient associated with a missense mutation in exon 3 of the PRKCG gene. Mov Disord 2007;22:2135-6. – reference: Dalski A, Mitulla B, Burk K, Schattenfroh C, Schwinger E, Zuhlke C. Mutation of the highly conserved cysteine residue 131 of the SCA14 associated PRKCG gene in a family with slow progressive cerebellar ataxia. J Neurol 2006;253:1111-2. – reference: Chen DH, Brkanac Z, Verlinde CL et al. Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia. Am J Hum Genet 2003;72:839-49. – reference: Verbeek DS, Knight MA, Harmison GG, Fischbeck KH, Howell BW. Protein kinase C gamma mutations in spinocerebellar ataxia 14 increase kinase activity and alter membrane targeting. Brain 2005;128:2-42. – reference: Yamashita I, Sasaki H, Yabe I et al. A novel locus for dominant cerebellar ataxia (SCA14) maps to a 10.2-cM interval flanked by D19S206 and D19S605 on chromosome 19q13.4-qter. Ann Neurol 2000;48:156-63. – reference: Klebe S, Faivre L, Forlani S et al. Another mutation in cysteine 131 in protein kinase C gamma as a cause of spinocerebellar ataxia type 14. Arch Neurol 2007;64:913-4. – reference: Gudbjartsson DF, Jonasson K, Frigge ML, Kong A. Allegro, a new computer program for multipoint linkage analysis. Nat Genet 2000;25:12-3. – reference: Van De Warrenburg BP, Verbeek DS, Piersma SJ et al. Identification of a novel SCA14 mutation in a Dutch autosomal dominant cerebellar ataxia family. Neurology 2003;61:1760-5. – reference: Stevanin G, Hahn V, Lohmann E et al. Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14. Arch Neurol 2004;61:1242-8. – reference: Koht J, Erichsen AK, Stray-Pedersen A, Abdelnoor M, Tallaksen CM. Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study. Brain 2009;132:1577-88. – reference: Chen DH, Cimino PJ, Ranum LP et al. The clinical and genetic spectrum of spinocerebellar ataxia 14. Neurology 2005;64:1258-60. – reference: Netravathi M, Sathyaprabha TN, Jayalaxmi K, Datta P, Nirmala M, Pal PK. A comparative study of cardiac dysautonomia in autosomal dominant spinocerebellar ataxias and idiopathic sporadic ataxias. Acta Neurol Scand 2009;120:204-9. – reference: Morita H, Yoshida K, Suzuki K, Ikeda S. A Japanese case of SCA14 with the Gly128Asp mutation. J Hum Genet 2006;51:1118-21. – reference: Asai H, Hirano M, Shimada K et al. Protein kinase C gamma, a protein causative for dominant ataxia, negatively regulates nuclear import of recessive-ataxia-related aprataxin. Hum Mol Genet 2009;18:3533-43. – reference: Vlak MH, Sinke RJ, Rabelink GM, Kremer BP, Van De Warrenburg BP. Novel PRKCG/SCA14 mutation in a Dutch spinocerebellar ataxia family: expanding the phenotype. Mov Disord 2006;21:1025-8. – reference: Hiramoto K, Kawakami H, Inoue K et al. Identification of a new family of spinocerebellar ataxia type 14 in the Japanese spinocerebellar ataxia population by the screening of PRKCG exon 4. Mov Disord 2006;21:1355-60. – reference: Nolte D, Klebe S, Baron R, Deuschl G, Muller U. Codon 101 of PRKCG, a preferential mutation site in SCA14. Mov Disord 2007;22:1831-2. – reference: Fahey MC, Knight MA, Shaw JH et al. Spinocerebellar ataxia type 14: study of a family with an exon 5 mutation in the PRKCG gene. J Neurol Neurosurg Psychiatry 2005;76:1720-2. – reference: Schmitz-Hubsch T, Tezenas Du MS, Baliko L et al. Reliability and validity of the International Cooperative Ataxia Rating Scale: a study in 156 spinocerebellar ataxia patients. Mov Disord 2006;21:699-704. – reference: Alonso I, Costa C, Gomes A et al. A novel H101Q mutation causes PKCgamma loss in spinocerebellar ataxia type 14. J Hum Genet 2005;50:523-9. – reference: Yabe I, Sasaki H, Chen DH et al. Spinocerebellar ataxia type 14 caused by a mutation in protein kinase C gamma. Arch Neurol 2003;60:1749-51. – reference: Verbeek DS, Warrenburg BP, Hennekam FA et al. Gly118Asp is a SCA14 founder mutation in the Dutch ataxia population. Hum Genet 2005;117:88-91. – reference: Klebe S, Durr A, Rentschler A et al. New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14. Ann Neurol 2005;58:720-9. – reference: Adachi N, Kobayashi T, Takahashi H et al. Enzymological analysis of mutant protein kinase Cgamma causing spinocerebellar ataxia type 14 and dysfunction in Ca2+ homeostasis. J Biol Chem 2008;283:19854-63. – reference: Koht J, Tallaksen CM. Cerebellar ataxia in the eastern and southern parts of Norway. Acta Neurol Scand 2007;187(Suppl):76-9. – reference: Newton AC. 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| Snippet | Koht J, Stevanin G, Durr A, Mundwiller E, Brice A, Tallaksen CME. SCA14 in Norway, two families with autosomal dominant cerebellar ataxia and a novel mutation... Despite a similar prevalence of autosomal dominant cerebellar ataxia (ADCA) in Norway compared to other European countries, less than 10% of the families are... |
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| SubjectTerms | Adolescent Adult Age Aged Aged, 80 and over Ataxia Biological and medical sciences Cerebellar ataxia Cerebellar Ataxia - genetics Cerebellum Chromosomes Codons DNA Mutational Analysis Errors of metabolism Female gait Genetic analysis Genetic markers Glutamine Head Histidine Humans Limbs Lipids (lysosomal enzyme disorders, storage diseases) Male Medical sciences Metabolic diseases Microsatellites Middle Aged Mutation Mutation, Missense - genetics Neurology Norway Polyglutamine PRKCG Protein Kinase C - genetics SCA SCA14 Spinocerebellar Ataxias Spinocerebellar Degenerations - genetics Transversion tremor Trinucleotide repeats Young Adult |
| Title | SCA14 in Norway, two families with autosomal dominant cerebellar ataxia and a novel mutation in the PRKCG gene |
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