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2012 ; 79
(ä): 35-85
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The genetics of dystonias
#MMPMID22989765
LeDoux MS
Adv Genet
2012[]; 79
(ä): 35-85
PMID22989765
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Dystonia has been defined as a syndrome of involuntary, sustained muscle
contractions affecting one or more sites of the body, frequently causing twisting
and repetitive movements or abnormal postures. Dystonia is also a clinical sign
that can be the presenting or prominent manifestation of many neurodegenerative
and neurometabolic disorders. Etiological categories include primary dystonia,
secondary dystonia, heredodegenerative diseases with dystonia, and dystonia plus.
Primary dystonia includes syndromes in which dystonia is the sole phenotypic
manifestation with the exception that tremor can be present as well. Most primary
dystonia begins in adults, and approximately 10% of probands report one or more
affected family members. Many cases of childhood- and adolescent-onset dystonia
are due to mutations in TOR1A and THAP1. Mutations in THAP1 and CIZ1 have been
associated with sporadic and familial adult-onset dystonia. Although significant
recent progress had been made in defining the genetic basis for most of the
dystonia-plus and heredodegenerative diseases with dystonia, a major gap remains
in understanding the genetic etiologies for most cases of adult-onset primary
dystonia. Common themes in the cellular biology of dystonia include G1/S cell
cycle control, monoaminergic neurotransmission, mitochondrial dysfunction, and
the neuronal stress response.
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