Early onset primary dystonia

Research output: Contribution to journalArticle

10 Citations (Scopus)

Abstract

Dystonia is a syndrome characterized by sustained muscle contractions, frequently causing twisting and repetitive movements or abnormal postures. It is classified by age at onset, by distribution, and by aetiology. The aetiological classification distinguishes the following categories: primary, dystonia plus, secondary, heredo-degenerative and psychogenic dystonia. Primary dystonia is defined as clinical condition characterized by dystonia as the only neurological abnormality apart from tremor. Different genetic alterations and gene loci have been mapped in familial and sporadic patients. Early onset-primary dystonia (EO-PD) is the most severe form of primary dystonia, with clinical and genetic heterogeneity. It usually starts in one body part, subsequently spreads to involve other body regions with frequent generalization. DYT1 dystonia is transmitted as an autosomal dominant trait with reduced penetrance. The unique underlying mutation is a GAG deletion in the coding region of the TOR1A gene, located at chromosome 9q34. DYT16 dystonia is a novel recessive form of EO-PD, recently described in few patients, caused by mutations in the PRKRA gene located at chromosome 2q31. At least other two loci have been mapped, but there remains a large number of patients with EO-PD in whom no genetic alteration is discovered.

Original languageEnglish
Pages (from-to)488-492
Number of pages5
JournalEuropean Journal of Paediatric Neurology
Volume13
Issue number6
DOIs
Publication statusPublished - Nov 2009

Fingerprint

Dystonic Disorders
Dystonia
Chromosomes
Genes
Body Regions
Mutation
Genetic Heterogeneity
Penetrance
Dyskinesias
Tremor
Muscle Contraction
Posture
Human Body
Age of Onset
Dystonia musculorum deformans type 1

Keywords

  • Early onset
  • Genetic
  • Primary dystonia

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health

Cite this

Early onset primary dystonia. / Zorzi, Giovanna; Zibordi, Federica; Garavaglia, Barbara; Nardocci, Nardo.

In: European Journal of Paediatric Neurology, Vol. 13, No. 6, 11.2009, p. 488-492.

Research output: Contribution to journalArticle

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