A new F‐box protein 7 gene mutation causing typical Parkinson's disease. Issue 8 (23rd May 2015)

• Record Type: Journal Article
• Authors: Lohmann, Ebba; Coquel, Anne‐Sophie; Honoré, Aurélie; Gurvit, Hakan; Hanagasi, Hasmet; Emre, Murat; Leutenegger, Anne L.; Drouet, Valérie; Sahbatou, Mourad; Guven, Gamze; Erginel‐Unaltuna, Nihan; Deleuze, Jean‐Francois; Lesage, Suzanne; Brice, Alexis
• Is Part Of: Movement disorders. Volume 30:Issue 8(2015)
• Page Start: 1130
• Page End: 1133
• Publication Date: 2015-05-23
• Subjects: Movement disorders -- Periodicals; 610
• DOI: 10.1002/mds.26266
• Languages: English
• ISSNs: 0885-3185

Abstract

<abstract abstract-type="main"> <title>Abstract</title> <sec id="mds26266-sec-0001" sec-type="section"> <title>Background</title> <p>Recessive mutations in the <italic>F‐box protein 7</italic> gene (<bold><italic>FBXO7</italic></bold>; PARK15) have been identified as a cause of the parkinsonian‐pyramidal syndrome. Here, we report clinical and genetic findings in a Turkish family with novel <italic>FBXO7</italic> mutations.</p> </sec> <sec id="mds26266-sec-0002" sec-type="section"> <title>Methods</title> <p>Whole exome and targeted Sanger sequencing were performed for genetic analysis in a family with two members affected by Parkinson's disease (PD). All family members underwent detailed clinical, mental, and neurological examination.</p> </sec> <sec id="mds26266-sec-0003" sec-type="section"> <title>Results</title> <p>The new p.L34R (c.101 T&gt;G) <italic>FBXO7</italic> mutation was detected in a homozygous state in two Turkish sibs with typical levodopa‐responsive PD.</p> </sec> <sec id="mds26266-sec-0004" sec-type="section"> <title>Conclusion</title> <p>This is the first time a <italic>FBXO7</italic> mutation has been identified that causes a phenotype compatible with typical idiopathic PD and presents with some of its common nonmotor features, such as rapid eye movement sleep behavior disorder, depression, and anxiety. © 2015 International Parkinson and Movement Disorder Society</p> </sec> </abstract>