Parkinson’s Disease and Related Disorders pp 235-240
Genetic and DAT imaging studies of familial parkinsonism in a Taiwanese cohort
We here summarize the results of genetic investigations on a series of 82 parkinsonian patients from 60 families in Taiwan. We found 13 parkin patients in 7 families (12%), 2 PINK1 sibs from 1 family, and 1 LRRK2 patient from 1 family with I2012T mutation. We also identified SCA2 in 8 patients from 5 families (8%) and SCA3 in 3 patients from 1 family, all presenting with parkinsonian phenotype.
In the available patients with parkin, PINK1, SCA2 and SCA3, the dopamine transporter (DAT) scan revealed that the reduction of uptake was primarily observed in the bilateral putamen, basically sharing a similar pattern with that in idiopathic Parkinson’s disease.
We concluded that the genetic causes contributed to about 25% of our series of familial parkinsonism. The parkin mutations and SCA2 were the most frequent genetic causes in our series with Chinese ethnicity. The results of DAT scan indicated that bilateral putamen was essentially involved in various genetically-caused familial parkinsonism.
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- Abbas N, Lücking CB, Richard S, Durr A, Bonifati V, De Michele G, Bouley S, Vaughan JR, Gasser T, Marconi R, Broussolle E, Brefel-Courbon C, Harhangi BS, Oostra BA, Fabrizio E, Bohme GA, Pradier L, Wood NW, Filla A, Meco G, Denefle P, Agid Y, Brice A, the French Parkinson’s Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson’s Disease (1999) A wide variability of mutations in the parkin gene is responsible for autosomal recessive juvenile parkinsonism in Europe. French Parkinson’s Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson’s disease. Hum Mol Genet 8: 567–574PubMedCrossRefGoogle Scholar
- Bonifati V, Rizzu P, van Baren MJ, Schaap O, Breedveld GJ, Krieger E, Dekker MCJ, Squitieri F, Ibanez P, Joosse M, van Dongen JW, Vanacore N, van Swieten JC, Brice A, Meco G, van Duijn CM, Oostra BA, Heutink P (2003) Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. Science 299: 256–259PubMedCrossRefGoogle Scholar
- Di Fonzo A, Rohe CF, Ferreira J, Chien HF, Vacca L, Stocchi F, Guedes L, Fabrizio E, Manfredi M, Vanacore N, Goldwurm S, Breedveld G, Sampaio C, Meco G, Barbosa E, Oostra BA, Bonifati V, the Italian Parkinson Genetic Network (2005) A frequent LRRK2 gene mutation associated with autosomal dominant Parkinson’s disease. Lancet 365: 412–415PubMedGoogle Scholar
- Hattori N, Kidata T, Matsumine H, Asakawa S, Yamamura Y, Yoshino H, Kobayashi T, Yokochi M, Wang M, Yoritaka A, Kondo T, Kuzuhara S, Nakamura S, Shimizu N, Mizuno Y (1998) Molecular genetic analysis of a novel parkin gene in Japanese families with autosomal recessive juvenile parkinsonism: evidence fro variable homozygous deletion in the parkin gene in affected individuals. Ann Neurol 44: 935–941PubMedCrossRefGoogle Scholar
- Lücking CB, Dürr A, Bonifati V, Vaughan J, De Michele G, Gasser T, Harhangi BS, Meco G, Denefle P, Wood NW, Filla A, Agid Y, Brice A, for the European Consortium on Genetic Susceptibility in Parkinson’s Disease and the French Parkinson’s Disease Genetics Study Group (2000) Association between early onset Parkinson’s disease and mutations in the parkin gene. N Engl J Med 342: 1560–1567PubMedCrossRefGoogle Scholar
- Nicolas WC, Pankratz N, Hernandez D, Paisan-Ruiz C, Jain S, Halter CA, Michaels V, Reed T, Rudolph A, Shults CW, Singleton A, Foroud T, for the Parkinson’s Study Group-PROGENI investigators (2005) Genetic screening for a single common LRRK2 mutation in familial Parkinson’s disease. Lancet 365: 410–412Google Scholar
- Paisan-Ruiz C, Jain S, Evan EW, Gilks WP, Simon J, van der Brug M, deMunain AL, Aparicio S, Gil AM, Khan N, Johnson J, Martinez JR, Nicholl D, Carrera IM, Pena AS, de Silva R, Lees A, Marti-Masso JF, Perez-Tur J, Wood NW, Singleton AB (2004) Cloning of the gene containing mutations that cause PARK8 linked Parkinson disease. Neuron 44: 595–600PubMedCrossRefGoogle Scholar
- Polymeropoulos MH, Lavedan C, Leroy E, Ide SE, Dehejia A, Dutra A, Pike B, Root H, Bubenstein J, Boyer R, Stenroos ES, Chandrasekharappa S, Athanassiadou A, Papapetropoulos T, Johnson WG, Lazzarini AM, Duvoisin RC, Di Iorio G, Golbe LI, Nussbaum RL (1997) Mutation in the a-synuclein gene identified in families with Parkinson’s disease. Science 276: 2045–2047PubMedCrossRefGoogle Scholar
- Subramony SH, Hernandez D, Adam A, Smith-Jefferson S, Hussey J, Gwinn-Hardy K, Lynch T, McDaniel O, Hardy J, Farrer M, Singleton A (2002) Ethnic differences in the expression of neurodegenerative disease: Machado-Josephdisease in Africans and Caucasians. Mov Disord 17: 1068–1071PubMedCrossRefGoogle Scholar
- Valente EM, Abou-Sleiman PM, Caputo V, Muqit MMK, Harvey K, Gispert S, Ali Z, Del Turco D, Bentivoglio AR, Healy DG, Albanese A, Nussbaum R, Gonzalez-Maldonado R, Deller T, Salvi S, Cortelli P, Gilks WP, Latchman DS, Harvey RJ, Dallapiccola B, Auburger G, Wood NW (2004) Hereditary early-onset Parkinson’s disease caused by mutations in PINK1. Science 304: 1158–1160PubMedCrossRefGoogle Scholar
- Wu RM, Shan DE, Sun CM, Liu RS, Hwu WL, Tai CH, Hussey J, West A, Gwinn-Hardy K, Hardy J, Chen J, Farrer M, Lincoln S (2002) Clinical 18F-dopa PET, and genetic analysis of an ethnic Chinese kindred with early-onset parkinsonism and parkin gene mutations. Mov Disord 17: 670–675PubMedCrossRefGoogle Scholar
- Zimprich A, Biskup S, Leitner P, Lichtner P, Farrer M, Lincoln S, Kachergus J, Hulihan M, Uitti RJ, Calne DB, Stoessl AJ, Pfeiffer RF, Patenge N, Carbajal IC, Vieregge P, Asmus F, Muller-Myhsok B, Dickson DW, Meitinger T, Storm TM, Wszolek ZK, Gasser T (2004) Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology. Neuron 44: 601–607PubMedCrossRefGoogle Scholar