PINK1 mutations are associated with sporadic early-onset parkinsonism
We have recently reported homozygous mutations in the PINK1 gene in three consanguineous families with early‐onset parkinsonism (EOP) linked to the PARK6 locus. To further evaluate the pathogenic role of PINK1 in EOP and to draw genotype–phenotype correlates, we performed PINK1 mutation analysis in...
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| Published in | Annals of neurology Vol. 56; no. 3; pp. 336 - 341 |
|---|---|
| Main Authors | , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
Hoboken
Wiley Subscription Services, Inc., A Wiley Company
01.09.2004
Willey-Liss |
| Subjects | |
| Online Access | Get full text |
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| Abstract | We have recently reported homozygous mutations in the PINK1 gene in three consanguineous families with early‐onset parkinsonism (EOP) linked to the PARK6 locus. To further evaluate the pathogenic role of PINK1 in EOP and to draw genotype–phenotype correlates, we performed PINK1 mutation analysis in a cohort of Italian EOP patients, mostly sporadic, with onset younger than 50 years of age. Seven of 100 patients carried missense mutations in PINK1. Two patients had two PINK1 mutations, whereas in five patients only one mutation was identified. Age at onset was in the fourth‐fifth decade (range, 37–47 years). The clinical picture was characterized by a typical parkinsonian phenotype with asymmetric onset and rare occurrence of atypical features. Slow progression and excellent response to levodopa were observed in all subject. Two of 200 healthy control individuals also carried one heterozygous missense mutation. The identification of a higher number of patients (5%) than controls (1%) carrying a single heterozygous mutation, along with previous positron emission tomography studies demonstrating a preclinical nigrostriatal dysfunction in PARK6 carriers, supports the hypothesis that haploinsufficiency of PINK1, as well as of other EOP genes, may represent a susceptibility factor toward parkinsonism. However, the pathogenetic significance of heterozygous PINK1 mutations still remains to be clarified. Ann Neurol 2004;56:336–341 |
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| AbstractList | We have recently reported homozygous mutations in the PINK1 gene in three consanguineous families with early-onset parkinsonism (EOP) linked to the PARK6 locus. To further evaluate the pathogenic role of PINK1 in EOP and to draw genotype-phenotype correlates, we performed PINK1 mutation analysis in a cohort of Italian EOP patients, mostly sporadic, with onset younger than 50 years of age. Seven of 100 patients carried missense mutations in PINK1. Two patients had two PINK1 mutations, whereas in five patients only one mutation was identified. Age at onset was in the fourth-fifth decade (range, 37-47 years). The clinical picture was characterized by a typical parkinsonian phenotype with asymmetric onset and rare occurrence of atypical features. Slow progression and excellent response to levodopa were observed in all subject. Two of 200 healthy control individuals also carried one heterozygous missense mutation. The identification of a higher number of patients (5%) than controls (1%) carrying a single heterozygous mutation, along with previous positron emission tomography studies demonstrating a preclinical nigrostriatal dysfunction in PARK6 carriers, supports the hypothesis that haploinsufficiency of PINK1, as well as of other EOP genes, may represent a susceptibility factor toward parkinsonism. However, the pathogenetic significance of heterozygous PINK1 mutations still remains to be clarified. Ann Neurol 2004; 56:336-341 We have recently reported homozygous mutations in the PINK1 gene in three consanguineous families with early‐onset parkinsonism (EOP) linked to the PARK6 locus. To further evaluate the pathogenic role of PINK1 in EOP and to draw genotype–phenotype correlates, we performed PINK1 mutation analysis in a cohort of Italian EOP patients, mostly sporadic, with onset younger than 50 years of age. Seven of 100 patients carried missense mutations in PINK1. Two patients had two PINK1 mutations, whereas in five patients only one mutation was identified. Age at onset was in the fourth‐fifth decade (range, 37–47 years). The clinical picture was characterized by a typical parkinsonian phenotype with asymmetric onset and rare occurrence of atypical features. Slow progression and excellent response to levodopa were observed in all subject. Two of 200 healthy control individuals also carried one heterozygous missense mutation. The identification of a higher number of patients (5%) than controls (1%) carrying a single heterozygous mutation, along with previous positron emission tomography studies demonstrating a preclinical nigrostriatal dysfunction in PARK6 carriers, supports the hypothesis that haploinsufficiency of PINK1, as well as of other EOP genes, may represent a susceptibility factor toward parkinsonism. However, the pathogenetic significance of heterozygous PINK1 mutations still remains to be clarified. Ann Neurol 2004;56:336–341 We have recently reported homozygous mutations in the PINK1 gene in three consanguineous families with early-onset parkinsonism (EOP) linked to the PARK6 locus. To further evaluate the pathogenic role of PINK1 in EOP and to draw genotype-phenotype correlates, we performed PINK1 mutation analysis in a cohort of Italian EOP patients, mostly sporadic, with onset younger than 50 years of age. Seven of 100 patients carried missense mutations in PINK1. Two patients had two PINK1 mutations, whereas in five patients only one mutation was identified. Age at onset was in the fourth-fifth decade (range, 37-47 years). The clinical picture was characterized by a typical parkinsonian phenotype with asymmetric onset and rare occurrence of atypical features. Slow progression and excellent response to levodopa were observed in all subject. Two of 200 healthy control individuals also carried one heterozygous missense mutation. The identification of a higher number of patients (5%) than controls (1%) carrying a single heterozygous mutation, along with previous positron emission tomography studies demonstrating a preclinical nigrostriatal dysfunction in PARK6 carriers, supports the hypothesis that haploinsufficiency of PINK1, as well as of other EOP genes, may represent a susceptibility factor toward parkinsonism. However, the pathogenetic significance of heterozygous PINK1 mutations still remains to be clarified. We have recently reported homozygous mutations in the PINK1 gene in three consanguineous families with early-onset parkinsonism (EOP) linked to the PARK6 locus. To further evaluate the pathogenic role of PINK1 in EOP and to draw genotype-phenotype correlates, we performed PINK1 mutation analysis in a cohort of Italian EOP patients, mostly sporadic, with onset younger than 50 years of age. Seven of 100 patients carried missense mutations in PINK1. Two patients had two PINK1 mutations, whereas in five patients only one mutation was identified. Age at onset was in the fourth-fifth decade (range, 37-47 years). The clinical picture was characterized by a typical parkinsonian phenotype with asymmetric onset and rare occurrence of atypical features. Slow progression and excellent response to levodopa were observed in all subject. Two of 200 healthy control individuals also carried one heterozygous missense mutation. The identification of a higher number of patients (5%) than controls (1%) carrying a single heterozygous mutation, along with previous positron emission tomography studies demonstrating a preclinical nigrostriatal dysfunction in PARK6 carriers, supports the hypothesis that haploinsufficiency of PINK1, as well as of other EOP genes, may represent a susceptibility factor toward parkinsonism. However, the pathogenetic significance of heterozygous PINK1 mutations still remains to be clarified.We have recently reported homozygous mutations in the PINK1 gene in three consanguineous families with early-onset parkinsonism (EOP) linked to the PARK6 locus. To further evaluate the pathogenic role of PINK1 in EOP and to draw genotype-phenotype correlates, we performed PINK1 mutation analysis in a cohort of Italian EOP patients, mostly sporadic, with onset younger than 50 years of age. Seven of 100 patients carried missense mutations in PINK1. Two patients had two PINK1 mutations, whereas in five patients only one mutation was identified. Age at onset was in the fourth-fifth decade (range, 37-47 years). The clinical picture was characterized by a typical parkinsonian phenotype with asymmetric onset and rare occurrence of atypical features. Slow progression and excellent response to levodopa were observed in all subject. Two of 200 healthy control individuals also carried one heterozygous missense mutation. The identification of a higher number of patients (5%) than controls (1%) carrying a single heterozygous mutation, along with previous positron emission tomography studies demonstrating a preclinical nigrostriatal dysfunction in PARK6 carriers, supports the hypothesis that haploinsufficiency of PINK1, as well as of other EOP genes, may represent a susceptibility factor toward parkinsonism. However, the pathogenetic significance of heterozygous PINK1 mutations still remains to be clarified. |
| Author | Salvi, Sergio Albanese, Alberto Marongiu, Roberta Valente, Enza Maria Bentivoglio, Anna Rita Elia, Antonio Emanuele Caputo, Viviana Romito, Luigi Dallapiccola, Bruno Ialongo, Tamara |
| Author_xml | – sequence: 1 givenname: Enza Maria surname: Valente fullname: Valente, Enza Maria email: e.valente@css-mendel.it organization: IRCCS Casa Solliero della Sofferenza, Mendel Institute, Rome, Italy – sequence: 2 givenname: Sergio surname: Salvi fullname: Salvi, Sergio organization: IRCCS Casa Solliero della Sofferenza, Mendel Institute, Rome, Italy – sequence: 3 givenname: Tamara surname: Ialongo fullname: Ialongo, Tamara organization: Institute of Neurology, Catholic University, Rome, Italy – sequence: 4 givenname: Roberta surname: Marongiu fullname: Marongiu, Roberta organization: IRCCS Casa Solliero della Sofferenza, Mendel Institute, Rome, Italy – sequence: 5 givenname: Antonio Emanuele surname: Elia fullname: Elia, Antonio Emanuele organization: Institute of Neurology, Catholic University, Rome, Italy – sequence: 6 givenname: Viviana surname: Caputo fullname: Caputo, Viviana organization: IRCCS Casa Solliero della Sofferenza, Mendel Institute, Rome, Italy – sequence: 7 givenname: Luigi surname: Romito fullname: Romito, Luigi organization: National Neurologic Institute Carlo Besta, Milan, Italy – sequence: 8 givenname: Alberto surname: Albanese fullname: Albanese, Alberto organization: Institute of Neurology, Catholic University, Rome, Italy – sequence: 9 givenname: Bruno surname: Dallapiccola fullname: Dallapiccola, Bruno organization: IRCCS Casa Solliero della Sofferenza, Mendel Institute, Rome, Italy – sequence: 10 givenname: Anna Rita surname: Bentivoglio fullname: Bentivoglio, Anna Rita organization: Institute of Neurology, Catholic University, Rome, Italy |
| BackLink | http://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=16115796$$DView record in Pascal Francis https://www.ncbi.nlm.nih.gov/pubmed/15349860$$D View this record in MEDLINE/PubMed |
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| References | Khan NK, Valente EM, Bentivoglio AR, et al. Clinical and subclinical dopaminergic dysfunction in autosomal recessive PARK6-linked parkinsonism: an 18F-dopa PET study. Ann Neurol 2002; 52: 849-853. Hatano Y, Li Y, Sato K, et al. Novel PINK1 mutations in early-onset parkinsonism. Ann Neurol 2004; 56: 424-427. Khan NK, Brooks DJ, Pavese N, et al. Progression of nigrostriatal dysfunction in a parkin kindred: an [18F]dopa PET and clinical study. Brain 2002; 125: 2248-2256. Lockhart PJ, Lincon S, Hulihan M, et al. DJ-1 mutations are a rare cause of recessively inherited early onset parkinsonism mediated by loss of protein function. J Med Genet 2004; 41: e22. Quinn NP, Critchley P, Marsden CD. Young onset Parkinson's disease. Mov Disord 1987; 2: 73-91. Hedrich K, Djarmati A, Schäfer N, et al. DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease. Neurology 2004; 62: 389-394. Valente EM, Abou-Sleiman PM, Caputo V, et al. Hereditary early-onset Parkinson's disease caused by mutations in PINK1. Science 2004; 304: 1158-1160. Gelb DJ, Oliver E, Gilman S. Diagnostic criteria for Parkinson disease. Arch Neurol 1999; 56: 33-39. Hilker R, Klein C, Heidrich K, et al. The striatal dopaminergic deficit is dependent on the number of mutant alleles in a family with mutations in the parkin gene: evidence for enzymatic parkin function un humans. Neurosci Lett 2002; 323: 50-54. Aarskog NK, Vedeler CA. Real-time quantitative polymerase chain reaction. A novel method that detects both the peripheral myelin protein 22 duplication in Charcot-Marie-Tooth type 1A disease and the peripheral myelin protein 22 deletion in hereditary neuropathy with liability to pressure palsies. Hum Genet 2000; 107: 494-498. Bentivoglio AR, Cortelli P, Valente EM, et al. Phenotypic characterisation of autosomal recessive PARK6-linked parkinsonism in three unrelated Italian families. Mov Disord 2001; 16: 999-1006. Periquet M, Latouche M, Lohmann E, et al. Parkin mutations are frequent in patients with isolated early-onset parkinsonism. Brain 2003; 126: 1271-1278. Kann M, Jacobs H, Mohrmann K, et al. Role of Parkin mutations in 111 community-based patients with early-onset parkinsonism. Ann Neurol 2002; 51: 621-625. Hague S, Rogaeva E, Hernandez D, et al. Early-onset Parkinson's disease caused by a compound heterozygous DJ-1 mutation. Ann Neurol 2003; 54: 271-274. Dekker MCJ, Bonifati V, van Duijn CM. Parkinson's disease: piecing together a genetic jigsaw. Brain 2003; 126: 1722-1733. Hedrich K, Marder K, Harris J, et al. Evaluation of 50 probands with early-onset Parkinson's disease for Parkin mutations. Neurology 2002; 58: 1239-1246. Bonifati V, Rizzu P, van Baren MJ, et al. Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. Science 2003; 299: 256-259. Lücking CB, Dürr A, Bonifati V, et al. Association between early-onset Parkinson's disease and mutations in the Parkin gene. N Engl J Med 2000; 342: 1560-1567. West A, Periquet M, Lincon S, et al. Complex relationship between Parkin mutations and Parkinson disease. Am J Med Genet (Neuropsychiatric Genet) 2002; 114: 584-591. Heid CA, Stevens J, Livak K, Williams PM. Real time quantitative PCR. Genome Res 1996; 6: 986-994. Lohmann E, Periquet M, Bonifati V, et al. How much phenotypic variation can be attributed to parkin genotype? Ann Neurol 2003; 54: 176-185. Abou-Sleiman PM, Healy DG, Quinn N, et al. The role of pathogenic DJ-1 mutations in Parkinson's disease. Ann Neurol 2003; 54: 283-286. Hedrich K, Kann M, Lanthaler AJ, et al. The importance of gene dosage studies: mutational analysis of the parkin gene in early-onset parkinsonism. Hum Mol Genet 2001; 10: 1649-1656 Ibáňez P, De Michele G, Bonifati V, et al. Screening for DJ-1 mutations in early onset autosomal recessive parkinsonism. Neurology 2003; 61: 1429-1431. 1987; 2 2002; 58 2004; 41 2004; 62 2002; 52 2002; 51 2002; 114 2000; 107 2002; 323 2002; 125 2004; 56 1999; 56 2001; 16 2000; 342 2003; 126 2003; 61 2003; 299 2004; 304 2003; 54 1996; 6 2001; 10 e_1_2_6_20_2 e_1_2_6_8_2 e_1_2_6_7_2 e_1_2_6_18_2 e_1_2_6_9_2 e_1_2_6_19_2 e_1_2_6_4_2 e_1_2_6_3_2 e_1_2_6_6_2 e_1_2_6_5_2 e_1_2_6_12_2 e_1_2_6_24_2 e_1_2_6_13_2 e_1_2_6_23_2 e_1_2_6_2_2 e_1_2_6_10_2 e_1_2_6_22_2 e_1_2_6_11_2 e_1_2_6_21_2 e_1_2_6_16_2 e_1_2_6_17_2 e_1_2_6_14_2 e_1_2_6_15_2 e_1_2_6_25_2 |
| References_xml | – reference: Hague S, Rogaeva E, Hernandez D, et al. Early-onset Parkinson's disease caused by a compound heterozygous DJ-1 mutation. Ann Neurol 2003; 54: 271-274. – reference: Hedrich K, Djarmati A, Schäfer N, et al. DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease. Neurology 2004; 62: 389-394. – reference: Aarskog NK, Vedeler CA. Real-time quantitative polymerase chain reaction. A novel method that detects both the peripheral myelin protein 22 duplication in Charcot-Marie-Tooth type 1A disease and the peripheral myelin protein 22 deletion in hereditary neuropathy with liability to pressure palsies. Hum Genet 2000; 107: 494-498. – reference: Lohmann E, Periquet M, Bonifati V, et al. How much phenotypic variation can be attributed to parkin genotype? Ann Neurol 2003; 54: 176-185. – reference: Bonifati V, Rizzu P, van Baren MJ, et al. Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. Science 2003; 299: 256-259. – reference: West A, Periquet M, Lincon S, et al. Complex relationship between Parkin mutations and Parkinson disease. Am J Med Genet (Neuropsychiatric Genet) 2002; 114: 584-591. – reference: Quinn NP, Critchley P, Marsden CD. Young onset Parkinson's disease. Mov Disord 1987; 2: 73-91. – reference: Gelb DJ, Oliver E, Gilman S. Diagnostic criteria for Parkinson disease. Arch Neurol 1999; 56: 33-39. – reference: Dekker MCJ, Bonifati V, van Duijn CM. Parkinson's disease: piecing together a genetic jigsaw. Brain 2003; 126: 1722-1733. – reference: Hedrich K, Kann M, Lanthaler AJ, et al. The importance of gene dosage studies: mutational analysis of the parkin gene in early-onset parkinsonism. Hum Mol Genet 2001; 10: 1649-1656 – reference: Valente EM, Abou-Sleiman PM, Caputo V, et al. Hereditary early-onset Parkinson's disease caused by mutations in PINK1. Science 2004; 304: 1158-1160. – reference: Ibáňez P, De Michele G, Bonifati V, et al. Screening for DJ-1 mutations in early onset autosomal recessive parkinsonism. Neurology 2003; 61: 1429-1431. – reference: Khan NK, Valente EM, Bentivoglio AR, et al. Clinical and subclinical dopaminergic dysfunction in autosomal recessive PARK6-linked parkinsonism: an 18F-dopa PET study. Ann Neurol 2002; 52: 849-853. – reference: Lücking CB, Dürr A, Bonifati V, et al. Association between early-onset Parkinson's disease and mutations in the Parkin gene. N Engl J Med 2000; 342: 1560-1567. – reference: Hedrich K, Marder K, Harris J, et al. Evaluation of 50 probands with early-onset Parkinson's disease for Parkin mutations. Neurology 2002; 58: 1239-1246. – reference: Khan NK, Brooks DJ, Pavese N, et al. Progression of nigrostriatal dysfunction in a parkin kindred: an [18F]dopa PET and clinical study. Brain 2002; 125: 2248-2256. – reference: Kann M, Jacobs H, Mohrmann K, et al. Role of Parkin mutations in 111 community-based patients with early-onset parkinsonism. Ann Neurol 2002; 51: 621-625. – reference: Periquet M, Latouche M, Lohmann E, et al. Parkin mutations are frequent in patients with isolated early-onset parkinsonism. Brain 2003; 126: 1271-1278. – reference: Hatano Y, Li Y, Sato K, et al. Novel PINK1 mutations in early-onset parkinsonism. Ann Neurol 2004; 56: 424-427. – reference: Bentivoglio AR, Cortelli P, Valente EM, et al. Phenotypic characterisation of autosomal recessive PARK6-linked parkinsonism in three unrelated Italian families. Mov Disord 2001; 16: 999-1006. – reference: Lockhart PJ, Lincon S, Hulihan M, et al. DJ-1 mutations are a rare cause of recessively inherited early onset parkinsonism mediated by loss of protein function. J Med Genet 2004; 41: e22. – reference: Abou-Sleiman PM, Healy DG, Quinn N, et al. The role of pathogenic DJ-1 mutations in Parkinson's disease. 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| Snippet | We have recently reported homozygous mutations in the PINK1 gene in three consanguineous families with early‐onset parkinsonism (EOP) linked to the PARK6... We have recently reported homozygous mutations in the PINK1 gene in three consanguineous families with early‐onset parkinsonism (EOP) linked to the PARK6... We have recently reported homozygous mutations in the PINK1 gene in three consanguineous families with early-onset parkinsonism (EOP) linked to the PARK6... |
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| SubjectTerms | Adult Age of Onset Aged Biological and medical sciences Female Gene Dosage Humans Male Medical sciences Middle Aged Mutation Neurology Parkinsonian Disorders - enzymology Parkinsonian Disorders - genetics Polymorphism, Genetic - genetics Protein Kinases - genetics |
| Title | PINK1 mutations are associated with sporadic early-onset parkinsonism |
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