Reply: Parkinson’s disease in GTP cyclohydrolase 1 mutation carriers
نویسندگان
چکیده
1 Department of Molecular Neuroscience, UCL Institute of Neurology, London WC1N 3BG, UK 2 IRCCS Istituto Auxologico Italiano, Department of Neurology and Laboratory of Neuroscience – Department of Pathophysiology and Transplantation, ‘Dino Ferrari’ Centre, Universita‘ degli Studi di Milano, 20149 Milan, Italy 3 Reta Lila Weston Institute of Neurological Studies, UCL Institute of Neurology, London WC1N 3BG, UK 4 Department of Neurology, University Hospital, 97080 Würzburg, Germany 5 Parkinson Institute, Istituti Clinici di Perfezionamento, 20126 Milan, Italy 6 Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, London WC1N 3BG, UK
منابع مشابه
LETTER TOTHE EDITOR Reply: Parkinson’s disease in GTP cyclohydrolase 1 mutation carriers
1 Department of Molecular Neuroscience, UCL Institute of Neurology, London WC1N 3BG, UK 2 IRCCS Istituto Auxologico Italiano, Department of Neurology and Laboratory of Neuroscience – Department of Pathophysiology and Transplantation, ‘Dino Ferrari’ Centre, Universita‘ degli Studi di Milano, 20149 Milan, Italy 3 Reta Lila Weston Institute of Neurological Studies, UCL Institute of Neurology, Lond...
متن کاملLETTER TOTHE EDITOR Parkinson’s disease in GTP cyclohydrolase 1 mutation carriers
Sir, We read with great interest the study titled ‘Parkinson’s disease in GTP cyclohydrolase 1 mutation carriers’ in the September edition of Brain (Mencacci et al., 2014). The study demonstrates loss-of-function variants in the GCH1 gene are not only a major cause of DOPA-responsive dystonia but are also enriched in relatives with adult-onset parkinsonism. Furthermore, the authors identify, th...
متن کاملExpanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency.
BACKGROUND Segawa syndrome due to GTP cyclohydrolase deficiency is an autosomal dominant disorder with variable expression, that is clinically characterised by l-dopa responsive, diurnally fluctuating dystonia and parkinsonian symptoms. OBJECTIVE To delineate the neurological and psychiatric phenotype in all affected individuals of three extended families. METHODS GTP cyclohydrolase deficie...
متن کاملLETTER TOTHE EDITOR Parkinsonism in GTP cyclohydrolase 1 mutation carriers
Sir, We read with great interest the article by Mencacci and colleagues (2014) reporting a significantly higher frequency of GTP cyclohydrolase 1 (GCH1) variants in patients with Parkinson’s disease compared to controls. Whole-exome sequencing of a large case-control cohort showed that rare GCH1 coding variants are associated with a 7-fold increased risk of Parkinson’s disease. Heterozygous los...
متن کاملNeuronal substrate of cognitive impairment in post-stroke dementia.
large GCH1 mutation positive family with dopa responsive dystonia: confusing the picture? J Neurol Neurosurg Psychiatry 2002; 72: 801–4. Grünewald A, Kasten M, Ziegler A, Klein C. Next-generation phenotyping using the parkin example: time to catch up with genetics. JAMA Neurol 2013; 70: 1186–91. Klepitskaya O, Neuwelt AJ, Nguyen T, Leehey M. Primary dystonia misinterpreted as Parkinson disease:...
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عنوان ژورنال:
دوره 138 شماره
صفحات -
تاریخ انتشار 2015