title: Mutational analysis of parkin gene by denaturing high-performance liquid chromatography (DHPLC) in essential tremor.
abstract: OBJECTIVE
  To evaluate the relationship between point mutations within the parkin gene and essential tremor (ET).
  
  
  BACKGROUND
  Essential tremor, the most common movement disorder, has long been recognised as an autosomal dominant disease. To date the genes involved in ET pathogenesis are still unknown. Several authors reported the association of ET with Parkinson's disease (PD).
  
  
  METHODS
  One hundred and ten unrelated ET patients were analysed for point mutations within the parkin gene. Experimental conditions for DHPLC mutational analysis of the coding region of the parkin gene were set up.
  
  
  RESULTS
  Neither obvious disruptive mutations, nor mutations previously described in patients with Parkinson's disease were identified in the cohort of patients analysed. DHPLC analysis detected two already reported polymorphisms [c.1138G>C (V380L) and c.1180G>A (D394N)], and four novel rare variants (frequency <1%) [c.645C>A (H215Q); c.847C>T (H279H); c.1393G>A (V465M) and c.2695A>G] located within exonic regions. Four new polymorphisms [c.413-20T>C; c.872-35G>A; c.872-68C>G; c.1286-117A>G], and one rare variant (c.934-3C>T) were also found within intronic regions.
  
  
  CONCLUSIONS
  Causative sequence variants in the parkin gene have not been identified in this cohort of Italian ET patients.
authors.affiliation: Department of Neurosciences, Ophthalmology and Genetics, Section of Medical Genetics, University of Genoa c/o DIMI, Viale Benedetto XV 6, 16132 Genoa, Italy.
authors.forename: Simona
authors.initials: S
authors.lastname: Pigullo
authors.forename: Alessandro
authors.initials: A
authors.lastname: De Luca
authors.forename: Paolo
authors.initials: P
authors.lastname: Barone
authors.forename: Roberta
authors.initials: R
authors.lastname: Marchese
authors.forename: Emilia
authors.initials: E
authors.lastname: Bellone
authors.forename: Alessia
authors.initials: A
authors.lastname: Colosimo
authors.forename: Cesa
authors.initials: C
authors.lastname: Scaglione
authors.forename: Paolo
authors.initials: P
authors.lastname: Martinelli
authors.forename: Emilio
authors.initials: E
authors.lastname: Di Maria
authors.forename: Antonio
authors.initials: A
authors.lastname: Pizzuti
authors.forename: Giovanni
authors.initials: G
authors.lastname: Abbruzzese
authors.forename: Bruno
authors.initials: B
authors.lastname: Dallapiccola
authors.forename: Franco
authors.initials: F
authors.lastname: Ajmar
authors.forename: Paola
authors.initials: P
authors.lastname: Mandich
mesh_terms: D000368:Aged; D002851:Chromatography, High Pressure Liquid; D004252:DNA Mutational Analysis / Q000379:methods*; D020329:Essential Tremor / Q000235:genetics*; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D007558:Italy; D008875:Middle Aged; D017354:Point Mutation; D012680:Sensitivity and Specificity; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*
chemical_list: D044767:Ubiquitin-Protein Ligases; C111567:parkin protein