Literature DB >> 8782052

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

P J Morrison1, R B Godwin-Austen, J A Raeburn.   

Abstract

We describe a three generation family with Parkinson's disease showing autosomal dominant inheritance with extreme anticipation. Familial Parkinson's disease in three living generations is extremely rare, and anticipation is an unusual and interesting feature. Anticipation was shown in all generations and may have involved previous generations. Some cases of familial Parkinson's disease may therefore involve a trinucleotide repeat gene as part of the causal mechanism.

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Year:  1996        PMID: 8782052      PMCID: PMC1050638          DOI: 10.1136/jmg.33.6.504

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  11 in total

1.  A Greek-American kindred with autosomal dominant, levodopa-responsive parkinsonism and anticipation.

Authors:  K Markopoulou; Z K Wszolek; R F Pfeiffer
Journal:  Ann Neurol       Date:  1995-09       Impact factor: 10.422

2.  Trinucleotide repeat repeat repeat.

Authors:  P J Morrison
Journal:  Lancet       Date:  1993-08-14       Impact factor: 79.321

3.  A large kindred with autosomal dominant Parkinson's disease.

Authors:  L I Golbe; G Di Iorio; V Bonavita; D C Miller; R C Duvoisin
Journal:  Ann Neurol       Date:  1990-03       Impact factor: 10.422

4.  Genetic anticipation in Parkinson's disease.

Authors:  H Payami; S Bernard; K Larsen; J Kaye; J Nutt
Journal:  Neurology       Date:  1995-01       Impact factor: 9.910

5.  Increased risk of Parkinson's disease in parents and siblings of patients.

Authors:  H Payami; K Larsen; S Bernard; J Nutt
Journal:  Ann Neurol       Date:  1994-10       Impact factor: 10.422

6.  A clinical and genetic study of familial Parkinson's disease.

Authors:  D M Maraganore; A E Harding; C D Marsden
Journal:  Mov Disord       Date:  1991       Impact factor: 10.338

7.  No evidence for association of familial Parkinson's disease with CAG repeat expansion.

Authors:  R Carĕro-Valenzuela; K Lindblad; H Payami; W Johnson; M Schalling; E S Stenroos; S Shattuc; J Nutt; A Brice; M Litt
Journal:  Neurology       Date:  1995-09       Impact factor: 9.910

8.  Identification of an expanded CAG repeat in the Huntington's disease gene (IT15) in a family reported to have benign hereditary chorea.

Authors:  J C MacMillan; P J Morrison; N C Nevin; D J Shaw; P S Harper; O W Quarrell; R G Snell
Journal:  J Med Genet       Date:  1993-12       Impact factor: 6.318

9.  The epidemiology of Huntington's disease in Northern Ireland.

Authors:  P J Morrison; W P Johnston; N C Nevin
Journal:  J Med Genet       Date:  1995-07       Impact factor: 6.318

10.  Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy.

Authors:  H G Harley; S A Rundle; J C MacMillan; J Myring; J D Brook; S Crow; W Reardon; I Fenton; D J Shaw; P S Harper
Journal:  Am J Hum Genet       Date:  1993-06       Impact factor: 11.025

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  4 in total

1.  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

Review 2.  Mitochondrial dysfunction in idiopathic Parkinson disease.

Authors:  W D Parker; R H Swerdlow
Journal:  Am J Hum Genet       Date:  1998-04       Impact factor: 11.025

Review 3.  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

4.  Medical Myths and Legends: Presidential Address to the Ulster Medical Society. 6th October 2016.

Authors:  Patrick J Morrison
Journal:  Ulster Med J       Date:  2018-05-30
  4 in total

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