Session Information
Date: Tuesday, June 21, 2016
Session Title: Parkinson's disease: Genetics
Session Time: 12:30pm-2:00pm
Location: Exhibit Hall located in Hall B, Level 2
Objective: FBX07 (PARK15) mutations cause juvenile parkinsonism with autosomal ressesive inheritance. Juvenile parkinsonism, pyramidal tract signs and atypical symptoms such as dystonia, chorea, behavioral disturbances, mental retardation, dysphagia are reported in FBX07 mutated families. Here we report a case which has p.Arg498Ter mutation in FBX07 causing juvenile parkinsonism.
Background: A 16 year-old male admitted with generalized slowness, difficulty in balance and eating, causeless crying, aggression a year ago. Behavioral disturbances started four years ago and treated with antidepressants. After signs of parkinsonism appeared three years ago, he was diagnosed to have juvenile parkinsonism and received levodopa. Levodopa reversed the parkinsonism but was stopped due to side effects such as hypersexuality and behavioral disturbances. He has been born from a consanguineous marriage and has cousins with similar complaints.
Methods: Neurologial examination revealed hypophonia, hypomimia, resting tremor on the right lower extremity, severe postural instability, bradikinesia and rigidity in four extremities. There were no pyramidal tract signs except brisk tendon reflexes. Whole exome sequencing has identified a stop codon mutation (p.Arg498Ter) in FBX07. The same mutation was detected in his two affected cousins but we couldn’t examine them.
Results: He was treated with a lower-dose of levodopa (200mg/day) but it was terminated because of behavior disturbances. After 1 mg/day rasagiline, his behavioral disturbances have abolished, and also parkinsonism was diminished for a year. After twelve months of a nonproblematic period, he was admitted with self mutilation and severe crying episodes; clozapine was added and tremor, bradykinesia, rigidity and psychiatric symptoms has diminished to an acceptable level.
Conclusions: Up to now, a homozygous p. Arg378Gly mutation in an Iranian family, a compound heterozygous c.1144+1G>T, p.Thr22Met mutation in a Dutch family and, a homozygous p.Arg498Ter mutation in 1 Pakistani, 1 Italian and 2 Turkish families has been reported. Additionally a spontaneous p Arg498Ter mutation was found in a Turkish patient without family history and without consanguineous parents. Our case is adding another p Arg498Ter mutation to the FBX07 mutated cases’. This case shows that rasagiline may control parkinsonism in FBX07 mutation without aggravating behavioral symptoms.
To cite this abstract in AMA style:
M. Kuzu, F.N. Durmaz, Ç. Ulukan, H. Kaymakçalan, A.O. Çaglayan, C. Akbostanci. FBOX07 mutation with juvenile parkinsonism and behavioral disorders [abstract]. Mov Disord. 2016; 31 (suppl 2). https://www.mdsabstracts.org/abstract/fbox07-mutation-with-juvenile-parkinsonism-and-behavioral-disorders/. Accessed December 11, 2024.« Back to 2016 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/fbox07-mutation-with-juvenile-parkinsonism-and-behavioral-disorders/