Literature DB >> 18649400

Huntington CAG repeat size does not modify onset age in familial Parkinson's disease: the GenePD study.

Christopher F McNicoll1, Jeanne C Latourelle, Marcy E MacDonald, Mark F Lew, Oksana Suchowersky, Christine Klein, Lawrence I Golbe, Margery H Mark, John H Growdon, G Frederick Wooten, Ray L Watts, Mark Guttman, Brad A Racette, Joel S Perlmutter, Anwar Ahmed, Holly A Shill, Carlos Singer, Marie H Saint-Hilaire, Tiffany Massood, Karen W Huskey, Anita L DeStefano, Tammy Gillis, Jayalakshmi Mysore, Stefano Goldwurm, Gianni Pezzoli, Kenneth B Baker, Ilia Itin, Irene Litvan, Garth Nicholson, Alastair Corbett, Martha Nance, Edward Drasby, Stuart Isaacson, David J Burn, Patrick F Chinnery, Peter P Pramstaller, Jomana Al-Hinti, Anette T Moller, Karen Ostergaard, Scott J Sherman, Richard Roxburgh, Barry Snow, John T Slevin, Franca Cambi, James F Gusella, Richard H Myers.   

Abstract

The ATP/ADP ratio reflects mitochondrial function and has been reported to be influenced by the size of the Huntington disease gene (HD) repeat. Impaired mitochondrial function has long been implicated in the pathogenesis of Parkinson's disease (PD), and therefore, we evaluated the relationship of the HD CAG repeat size to PD onset age in a large sample of familial PD cases. PD affected siblings (n = 495), with known onset ages from 248 families, were genotyped for the HD CAG repeat. Genotyping failed in 11 cases leaving 484 for analysis, including 35 LRRK2 carriers. All cases had HD CAG repeats (range, 15-34) below the clinical range for HD, although 5.2% of the sample (n = 25) had repeats in the intermediate range (the intermediate range lower limit = 27; upper limit = 35 repeats), suggesting that the prevalence of intermediate allele carriers in the general population is significant. No relation between the HD CAG repeat size and the age at onset for PD was found in this sample of familial PD. (c) 2008 Movement Disorder Society.

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Year:  2008        PMID: 18649400      PMCID: PMC2655323          DOI: 10.1002/mds.22186

Source DB:  PubMed          Journal:  Mov Disord        ISSN: 0885-3185            Impact factor:   10.338


  33 in total

1.  Mitochondrial complex I deficiency in Parkinson's disease.

Authors:  A H Schapira; J M Cooper; D Dexter; P Jenner; J B Clark; C D Marsden
Journal:  Lancet       Date:  1989-06-03       Impact factor: 79.321

2.  Mutation in the alpha-synuclein gene identified in families with Parkinson's disease.

Authors:  M H Polymeropoulos; C Lavedan; E Leroy; S E Ide; A Dehejia; A Dutra; B Pike; H Root; J Rubenstein; R Boyer; E S Stenroos; S Chandrasekharappa; A Athanassiadou; T Papapetropoulos; W G Johnson; A M Lazzarini; R C Duvoisin; G Di Iorio; L I Golbe; R L Nussbaum
Journal:  Science       Date:  1997-06-27       Impact factor: 47.728

3.  Expansion of the (CAG)n repeat causing Huntington's disease in 352 patients of German origin.

Authors:  C Zühlke; O Riess; K Schröder; I Siedlaczck; J T Epplen; W Engel; U Thies
Journal:  Hum Mol Genet       Date:  1993-09       Impact factor: 6.150

4.  Use of cyclosporin A in establishing Epstein-Barr virus-transformed human lymphoblastoid cell lines.

Authors:  M A Anderson; J F Gusella
Journal:  In Vitro       Date:  1984-11

Review 5.  The relevance of the Lewy body to the pathogenesis of idiopathic Parkinson's disease.

Authors:  W R Gibb; A J Lees
Journal:  J Neurol Neurosurg Psychiatry       Date:  1988-06       Impact factor: 10.154

6.  Trinucleotide repeat length instability and age of onset in Huntington's disease.

Authors:  M Duyao; C Ambrose; R Myers; A Novelletto; F Persichetti; M Frontali; S Folstein; C Ross; M Franz; M Abbott
Journal:  Nat Genet       Date:  1993-08       Impact factor: 38.330

7.  Incidence of parkinsonism and Parkinson disease in a general population: the Rotterdam Study.

Authors:  L M L de Lau; P C L M Giesbergen; M C de Rijk; A Hofman; P J Koudstaal; M M B Breteler
Journal:  Neurology       Date:  2004-10-12       Impact factor: 9.910

8.  Prevalence of Parkinson's disease and other types of parkinsonism: a door-to-door survey in three Sicilian municipalities. The Sicilian Neuro-Epidemiologic Study (SNES) Group.

Authors:  L Morgante; W A Rocca; A E Di Rosa; P De Domenico; F Grigoletto; F Meneghini; A Reggio; G Savettieri; M G Castiglione; F Patti
Journal:  Neurology       Date:  1992-10       Impact factor: 9.910

9.  A study of the Huntington's disease associated trinucleotide repeat in the Scottish population.

Authors:  L H Barron; J P Warner; M Porteous; S Holloway; S Simpson; R Davidson; D J Brock
Journal:  J Med Genet       Date:  1993-12       Impact factor: 6.318

10.  Chronic mitochondrial energy impairment produces selective striatal degeneration and abnormal choreiform movements in primates.

Authors:  E Brouillet; P Hantraye; R J Ferrante; R Dolan; A Leroy-Willig; N W Kowall; M F Beal
Journal:  Proc Natl Acad Sci U S A       Date:  1995-07-18       Impact factor: 11.205

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  2 in total

1.  Estimating the probability of de novo HD cases from transmissions of expanded penetrant CAG alleles in the Huntington disease gene from male carriers of high normal alleles (27-35 CAG).

Authors:  Audrey E Hendricks; Jeanne C Latourelle; Kathryn L Lunetta; L Adrienne Cupples; Vanessa Wheeler; Marcy E MacDonald; James F Gusella; Richard H Myers
Journal:  Am J Med Genet A       Date:  2009-07       Impact factor: 2.802

2.  Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington's disease motor onset.

Authors:  Eliana Marisa Ramos; Jeanne C Latourelle; Tammy Gillis; Jayalakshmi S Mysore; Ferdinando Squitieri; Alba Di Pardo; Stefano Di Donato; Cinzia Gellera; Michael R Hayden; Patrick J Morrison; Martha Nance; Christopher A Ross; Russell L Margolis; Estrella Gomez-Tortosa; Carmen Ayuso; Oksana Suchowersky; Ronald J Trent; Elizabeth McCusker; Andrea Novelletto; Marina Frontali; Randi Jones; Tetsuo Ashizawa; Samuel Frank; Marie-Helene Saint-Hilaire; Steven M Hersch; Herminia D Rosas; Diane Lucente; Madaline B Harrison; Andrea Zanko; Ruth K Abramson; Karen Marder; James F Gusella; Jong-Min Lee; Isabel Alonso; Jorge Sequeiros; Richard H Myers; Marcy E Macdonald
Journal:  Neurogenetics       Date:  2013-05-04       Impact factor: 2.660

  2 in total

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