OBJECTIVES: 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). PATIENTS AND 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. CONCLUSION: Causative sequence variants in the parkin gene have not been identified in this cohort of Italian ET patients.
OBJECTIVES: 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). PATIENTS AND 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. CONCLUSION: Causative sequence variants in the parkin gene have not been identified in this cohort of Italian ET patients.
Authors: Roy N Alcalay; Helen Mejia-Santana; Ming X Tang; Brian Rakitin; Llency Rosado; Barbara Ross; Miguel Verbitsky; Sergey Kisselev; Elan D Louis; Cynthia L Comella; Amy Colcher; Danna Jennings; Martha A Nance; Susan Bressman; William K Scott; Caroline Tanner; Susan F Mickel; Howard F Andrews; Cheryl H Waters; Stanley Fahn; Lucien J Cote; Steven J Frucht; Blair Ford; Michael Rezak; Kevin Novak; Joseph H Friedman; Ronald Pfeiffer; Laura Marsh; Bradley Hiner; Andrew Siderowf; Ruth Ottman; Lorraine N Clark; Karen S Marder; Elise Caccappolo Journal: J Clin Exp Neuropsychol Date: 2010-02-24 Impact factor: 2.475
Authors: Roy N Alcalay; Elise Caccappolo; Helen Mejia-Santana; Ming Xin Tang; Llency Rosado; Barbara M Ross; Miguel Verbitsky; Sergey Kisselev; Elan D Louis; Cynthia Comella; Amy Colcher; Danna Jennings; Martha A Nance; Susan B Bressman; William K Scott; Caroline Tanner; Susan Mickel; Howard Andrews; Cheryl Waters; Stanley Fahn; Lucien Cote; Steven Frucht; Blair Ford; Michael Rezak; Kevin Novak; Joseph H Friedman; Ronald Pfeiffer; Laura Marsh; Bradley Hiner; Andrew Siderowf; Ruth Ottman; Karen Marder; Lorraine N Clark Journal: Arch Neurol Date: 2010-09
Authors: Karen S Marder; Ming X Tang; Helen Mejia-Santana; Llency Rosado; Elan D Louis; Cynthia L Comella; Amy Colcher; Andrew D Siderowf; Danna Jennings; Martha A Nance; Susan Bressman; William K Scott; Caroline M Tanner; Susan F Mickel; Howard F Andrews; Cheryl Waters; Stanley Fahn; Barbara M Ross; Lucien J Cote; Steven Frucht; Blair Ford; Roy N Alcalay; Michael Rezak; Kevin Novak; Joseph H Friedman; Ronald F Pfeiffer; Laura Marsh; Brad Hiner; Gregory D Neils; Miguel Verbitsky; Sergey Kisselev; Elise Caccappolo; Ruth Ottman; Lorraine N Clark Journal: Arch Neurol Date: 2010-06
Authors: Dietrich Haubenberger; Christoph Hotzy; Walter Pirker; Regina Katzenschlager; Thomas Brücke; Fritz Zimprich; Eduard Auff; Alexander Zimprich Journal: Mov Disord Date: 2009-12-15 Impact factor: 10.338
Authors: Yuanjia Wang; Lorraine N Clark; Elan D Louis; Helen Mejia-Santana; Juliette Harris; Lucien J Cote; Cheryl Waters; Howard Andrews; Blair Ford; Steven Frucht; Stanley Fahn; Ruth Ottman; Daniel Rabinowitz; Karen Marder Journal: Arch Neurol Date: 2008-04
Authors: Félix Javier Jiménez-Jiménez; Hortensia Alonso-Navarro; Elena García-Martín; Ignacio Álvarez; Pau Pastor; José A G Agúndez Journal: Pharmaceuticals (Basel) Date: 2021-05-27