A Case of Parkinson’s Disease with No Lewy Body Pathology due to a Homozygous Exon Deletion in Parkin
Joint Authors
Aasly, Jan O.
Johansen, Krisztina K.
Torp, Sverre Helge
Farrer, Matthew J.
Gustavsson, Emil K.
Source
Case Reports in Neurological Medicine
Issue
Vol. 2018, Issue 2018 (31 Dec. 2018), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2018-06-28
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
Parkinson’s disease (PD) is a clinical diagnosis based on the presence of cardinal motor signs, good response to levodopa, and no other explanations of the syndrome.
Earlier diagnostic criteria required autopsy for a definite diagnosis based on neuronal loss in the substantia nigra pars compacta (SNpc) and the presence of Lewy bodies and neurites.
Here, we present a patient who developed parkinsonism around the age of 20, with an excellent response to levodopa who, at age 65, received bilateral STN deep brain stimulation (DBS).
The patient died at age 79.
The autopsy showed severe neuronal loss in the SN without any Lewy bodies in the brainstem or in the hemispheres.
Genetic screening revealed a homozygous deletion of exon 3-4 in the Parkin gene.
In this case report we discuss earlier described pathological findings in Parkin cases without Lewy body pathology, the current diagnostic criteria for PD, and their clinical relevance.
American Psychological Association (APA)
Johansen, Krisztina K.& Torp, Sverre Helge& Farrer, Matthew J.& Gustavsson, Emil K.& Aasly, Jan O.. 2018. A Case of Parkinson’s Disease with No Lewy Body Pathology due to a Homozygous Exon Deletion in Parkin. Case Reports in Neurological Medicine،Vol. 2018, no. 2018, pp.1-4.
https://search.emarefa.net/detail/BIM-1145456
Modern Language Association (MLA)
Johansen, Krisztina K.…[et al.]. A Case of Parkinson’s Disease with No Lewy Body Pathology due to a Homozygous Exon Deletion in Parkin. Case Reports in Neurological Medicine No. 2018 (2018), pp.1-4.
https://search.emarefa.net/detail/BIM-1145456
American Medical Association (AMA)
Johansen, Krisztina K.& Torp, Sverre Helge& Farrer, Matthew J.& Gustavsson, Emil K.& Aasly, Jan O.. A Case of Parkinson’s Disease with No Lewy Body Pathology due to a Homozygous Exon Deletion in Parkin. Case Reports in Neurological Medicine. 2018. Vol. 2018, no. 2018, pp.1-4.
https://search.emarefa.net/detail/BIM-1145456
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1145456