title: DYT2 screening in early-onset isolated dystonia.
abstract: BACKGROUND
  Mutations in HPCA, a gene implicated in calcium signaling in the striatum, have been recently described in recessive dystonia cases previously grouped under the term "DYT2 dystonia". Positive patients reported so far show focal onset during childhood with subsequent generalization and a slowly progressive course to adulthood.
  
  
  METHODS
  73 patients with isolated dystonia of various distribution, manifesting within 21 years of age, were enrolled in this Italian study and underwent a mutational screening of HPCA gene by means of Sanger sequencing.
  
  
  CONCLUSIONS
  Mean age at onset was 10.2 (±5.1) years and mean age at the time of genetic testing was 33 (±14.2) years. Mean disease duration at the time of enrollment was 22.7 (±12.8) years. None of the patients enrolled was found to carry HPCA mutations, rising suspicion that these probably represent a very rare cause of dystonia in childhood-adolescence. Larger studies will help determining the real mutational frequency of this gene also in different ethnic groups.
authors: Molecular Neurogenetics Unit, IRCCS Foundation C. Besta Neurological Institute, Milan, Italy; Department of Child Neurology, IRCCS Foundation C. Besta Neurological Institute, Milan, Italy; Department of Translational Medicine, University of Milan Bicocca, Milan, Italy.
authors: Miryam
authors: M
authors: Carecchio
authors: Molecular Neurogenetics Unit, IRCCS Foundation C. Besta Neurological Institute, Milan, Italy.
authors: Chiara
authors: C
authors: Reale
authors: Molecular Neurogenetics Unit, IRCCS Foundation C. Besta Neurological Institute, Milan, Italy.
authors: Federica
authors: F
authors: Invernizzi
authors: Molecular Neurogenetics Unit, IRCCS Foundation C. Besta Neurological Institute, Milan, Italy.
authors: Valentina
authors: V
authors: Monti
authors: Department of Neurological Sciences, Sapienza University, Rome, Italy.
authors: Simona
authors: S
authors: Petrucci
authors: Department of Medicine and Surgery, University of Salerno, Salerno, Italy.
authors: Monia
authors: M
authors: Ginevrino
authors: Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.
authors: Francesca
authors: F
authors: Morgante
authors: Department of Child Neurology, IRCCS Foundation C. Besta Neurological Institute, Milan, Italy.
authors: Giovanna
authors: G
authors: Zorzi
authors: Department of Child Neurology, IRCCS Foundation C. Besta Neurological Institute, Milan, Italy.
authors: Federica
authors: F
authors: Zibordi
authors: Institute of Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.
authors: Anna Rita
authors: AR
authors: Bentivoglio
authors: Department of Medicine and Surgery, University of Salerno, Salerno, Italy.
authors: Enza Maria
authors: EM
authors: Valente
authors: Department of Child Neurology, IRCCS Foundation C. Besta Neurological Institute, Milan, Italy.
authors: Nardo
authors: N
authors: Nardocci
authors: Molecular Neurogenetics Unit, IRCCS Foundation C. Besta Neurological Institute, Milan, Italy. Electronic address: barbara.garavaglia@istituto-besta.it.
authors: Barbara
authors: B
authors: Garavaglia
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D002648:Child; D004421:Dystonia / Q000235:genetics*; D005260:Female; D005820:Genetic Testing; D051597:Hippocalcin / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D055815:Young Adult
chemical_list: C496691:HPCA protein, human; D051597:Hippocalcin
keywords: DYT2; Dystonia; HPCA; Isolated; Pediatric; Recessive