A genetic study of idiopathic focal dystonias

@article{Waddy1991AGS,
  title={A genetic study of idiopathic focal dystonias},
  author={Heather Waddy and N. A. Fletcher and A. E. Beryl Harding and C. David Marsden},
  journal={Annals of Neurology},
  year={1991},
  volume={29}
}
A genetic study of idiopathic focal dystonias was undertaken by examining 153 first‐degree relatives of 40 index patients with torticollis (14 patients), other focal cranial dystonias (16 patients), and writer's cramp (10 patients). Nine relatives with dystonia were identified in 6 families; 8 of these had symptoms such as clumsiness or tremor, but none were aware of any dystonia. A further 4 relatives, now deceased, were affected by history. Overall, 25% of index patients had relatives with… 
A genetic study of idiopathic focal dystonias
TLDR
The inheritance of focal dystonias was investigated in 43 families containing 43 index cases with torticollis, blepharospasm and writer's cramp, and segregation analysis suggested the presence of an autosomal dominant gene or genes with reduced penetrante underlying focal dySTONia.
The molecular genetics of the dystonias
  • T. Warner, P. Jarman
  • Medicine, Psychology
    Journal of neurology, neurosurgery, and psychiatry
  • 1998
TLDR
This classification incorporates the advances in the understanding of the genetics and aetiology of dystonia, and also the increasing number of distinguishable clinical phenotypes.
Frequency of familial aggregation in primary adult-onset cranial cervical dystonia
TLDR
It is raised the possibility that probable dystonia represents formes frustes/mild phenotypes of dySTONia rather than another movement disorder.
Sporadic focal dystonia in Northwest Germany: Molecular basis on chromosome 18p
TLDR
Investigation of sporadic patients with IFD from the same geographic area both clinically and molecularly with chromosome 18p markers indicates that most of these apparently sporadic patients have inherited the same mutation as Family K from a common ancestor and owe their disease to autosomal dominant inheritance at low penetrance.
Monogenic Causes of Dystonic Syndromes: Common in Dystonic Cerebral Palsy, Rare in Isolated Dystonia
  • Lara M Lange, C. Klein
  • Medicine, Psychology
    Movement disorders : official journal of the Movement Disorder Society
  • 2020
TLDR
A view of known and novel putative pathogenic monogenic variants across the spectrum of dystonic syndromes is provided and the genetic overlap with neurodevelopmental disorders is highlighted.
Genetics of dystonia: an overview.
  • S. Bressman
  • Psychology, Medicine
    Parkinsonism & related disorders
  • 2007
Clinical Similarities in Cervical Dystonia Patients With and Without a History of Painful Trauma
TLDR
Observations of the reverse; that is, families with focal dystonia having members with generalized dySTONia have failed to yield such a reverse association, at least by history.
Dystonia: recent advances
  • D. Thyagarajan
  • Medicine, Psychology
    Journal of Clinical Neuroscience
  • 1999
Inherited and de novo mutations in sporadic cases of DYT1-dystonia
TLDR
None of the probands in the authors' study with other types of dystonia had the GAG-deletion as reported in other studies, but the frequency of DYT1-dystonia was low in the study even though several probands had early onset generalised dySTONia.
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