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Senior Member
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Join Date: Sep 2006
Location: Tennessee
Posts: 1,213
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Senior Member
Join Date: Sep 2006
Location: Tennessee
Posts: 1,213
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Neuroinflammation due to genetic mutations/deletions ?
This discussion brings up the inflammation of the brain issue being part of Parkinson’s epidemiology. I believe soome of us a re genetically predispositioned to not be able to tolerat normall inflammation introduced iinto oour bodies (thus, the autoimmune topic). I have adhered to that theory since I first read it in this forum. If I get a cold, a sinus flare-up, or an injury or infection anywhere in my body, my symptoms exacerbate. Does that happen to any of you?
I had to post some of these studies that keep pointing to gene therapy being the wave of the future. (Note the DBS-resistant” reference)
Hmmmm . . . I wonder what “levodopa/STN DBS-resistant axial features” look like?
The 202A deletion of the parkin gene causes early-onset Parkinson's disease with marked levodopa/STN-DBS-resistant axial features. Postural tremor and preserved cognition, even after 40 years of disease, were also evident
Mov Disord. 2011 Mar;26(4):719-722. doi: 10.1002/mds.23456. Epub 2011 Jan 21.
This is a much older study but has a good explanation of the mutations (not deletions)of genes in different phenotypes in PWP’s:
Mutations in the parkin gene are therefore not invariably associated with early onset parkinsonism. In many patients, the phenotype is indistinguishable from that of idiopathic PD. This study has shown that a wide variety of different mutations in the parkin gene are a common cause of autosomal recessive parkinsonism in Europe and that different types of point mutations seem to be more frequently responsible for the disease phenotype than are deletions
Hum Mol Genet. 1999 Apr;8(4):567-74
The need for MORE assessments using non-motor symptoms is great. This recently published (not even in printed hard copy yet) establishes this needed change in outcome measurements.
Arousal symptoms (Epworth sleepiness scale and sleep/fatigue domain of the nonmotor symptoms scale for Parkinson's disease) and pupillary unrest were assessed in 31 participants (14 patients with Parkinson's disease, 17 controls.
RESULTS:
Participants with Parkinson's disease reported more arousal symptoms than controls. Pupillary unrest, arousal symptoms, and Unified Parkinson Disease Rating Scale Part III were positively correlated. The association between nonmotor symptoms scale-sleep score and pupillary unrest was higher in participants with Parkinson's disease than controls and higher in those with more Parkinsonian motor signs. Unified Parkinson Disease Rating Scale Part III was positively associated with pupillary unrest.
CONCLUSIONS:
Pupillary unrest correlates with motor and nonmotor features associated with Lewy-related pathology, suggesting it may be a nonmotor marker of progression in Parkinson's disease
Mov Disord. 2011 Apr 19. doi: 10.1002/mds.23628.
I very much appreciate seeing researchers attempt to find new ways to measure study outcomes, especially when there is no guarantee that those participating in a study have – REALLY have – idiopathic Parkinson’s to start with!
Peggy
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