Literature DB >> 7824103

Genetic anticipation in Parkinson's disease.

H Payami1, S Bernard, K Larsen, J Kaye, J Nutt.   

Abstract

We studied age at onset and family history of 137 patients (probands) with the diagnosis of idiopathic Parkinson's disease (PD). Probands (N = 21) who had an affected parent, aunt, or uncle were younger (p = 0.0001) at the onset of PD (47.7 +/- 8.8 years) than were probands (N = 11) who had an affected sib only (60.3 +/- 12.9 years) and probands (N = 105) who had no affected sib, parent, aunt, or uncle (59.2 +/- 11.4 years). Age at onset of affected family members differed significantly between generations (p = 0.0001). Age at onset was earlier, by an average of 17 years, in the proband generation than in the parental generation. The intrafamily variation in the calendar year of onset was too great to suggest a common point of exposure. Our data are most compatible with genetic anticipation, which could suggest involvement of an unstable trinucleotide repeat.

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Year:  1995        PMID: 7824103     DOI: 10.1212/wnl.45.1.135

Source DB:  PubMed          Journal:  Neurology        ISSN: 0028-3878            Impact factor:   9.910


  8 in total

Review 1.  The genetic basis of Parkinson's disease.

Authors:  T Foltynie; S Sawcer; C Brayne; R A Barker
Journal:  J Neurol Neurosurg Psychiatry       Date:  2002-10       Impact factor: 10.154

2.  Sequencing analysis of OMI/HTRA2 shows previously reported pathogenic mutations in neurologically normal controls.

Authors:  Javier Simón-Sánchez; Andrew B Singleton
Journal:  Hum Mol Genet       Date:  2008-03-25       Impact factor: 6.150

3.  Evidence for genetic anticipation in non-Mendelian diseases.

Authors:  A D Paterson; J L Kennedy; A Petronis
Journal:  Am J Hum Genet       Date:  1996-07       Impact factor: 11.025

4.  Familial autosomal dominant dopa responsive Parkinson's disease in three living generations showing extreme anticipation and childhood onset.

Authors:  P J Morrison; R B Godwin-Austen; J A Raeburn
Journal:  J Med Genet       Date:  1996-06       Impact factor: 6.318

5.  Genes and parkinsonism.

Authors:  N Wood
Journal:  J Neurol Neurosurg Psychiatry       Date:  1997-04       Impact factor: 10.154

6.  Search for unstable DNA in schizophrenia families with evidence for genetic anticipation.

Authors:  A Petronis; A S Bassett; W G Honer; J B Vincent; Y Tatuch; T Sasaki; D J Ying; T A Klempan; J L Kennedy
Journal:  Am J Hum Genet       Date:  1996-10       Impact factor: 11.025

7.  Parkin mutation dosage and the phenomenon of anticipation: a molecular genetic study of familial parkinsonism.

Authors:  Parvoneh Poorkaj; Lina Moses; Jennifer S Montimurro; John G Nutt; Gerard D Schellenberg; Haydeh Payami
Journal:  BMC Neurol       Date:  2005-02-22       Impact factor: 2.474

Review 8.  Brain sites of movement disorder: genetic and environmental agents in neurodevelopmental perturbations.

Authors:  T Palomo; R J Beninger; R M Kostrzewa; T Archer
Journal:  Neurotox Res       Date:  2003       Impact factor: 3.978

  8 in total

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