Hello al my brothers and sisters in arms latest update re my DBS referral,
This is an edited for privacy version of letter sent to my PD specialist Re: Karen Missenden DoB: 10/12/1965
Thank you for asking us to see Karen for consideration of deep brain stimulation for her young onset Parkinsonism. As you know, I have met her before as part of her Exenatide Trial, but I did not see her when she was first recruited, and therefore it was good to go over the history in much more detail today. She is now fifty, right handed and currently not working having formerly done factory type work. Her history dates back to May 2012 when she had an arthroscopy to repair her left shoulder, and following this she noted the left arm function was somewhat awkward. She experienced occasional jerks in the left arm, and over the course of the next six months this evolved into a left arm resting tremor. She also felt her left leg was less strong and having previously looked after someone with Parkinson's, she started to suspect that diagnosis in herself . She subsequently developed restless leg syndrome and some odd symptoms Ciplopia She was diagnosed with Parkinson's disease based on her clinical presentation at the time, and startled on Pramipexole which she found helpful, Within a short period, however, this was insufficient and she started on Levodopa which again was helpful. She developed early motor fluctuations and in the context of being recruited to our Exenatide Trial she developed dystonia. This initially occurred in left foot with typical toe curling, then right foot, but over the last year can now affect her neck and right shoulder and jaw The distonia is now the most disabling aspect of her condition. lt can occur in the mornings. overnight or during the daytime. lt is worse in cold temperatures Or if she gets into a bad mood. At it's worse it can happen up to eight or nine times per day each episode lasting five to twenty minutes, but uniquely this responds very well to Apomorphine subcutaneous injections. During a good week it can occur only two or three days, but on a bad week it can occur for up four or five days during the week. She generally having to use the APO-go injections three or four times a day.
University College London Hospitals Re: Karen Missenden DoB:10/12/1965
Apart from these bouts of dystonia she tells me her voice has become softer, she still gets diplopia when tired, her swallow and hearing are fine, her balance is good, her mobility is unlimited apart from some hip pains. She has had no falls, but one episode of freezing. Bladder and bowel functions are normal. Her cognition is fine. She has had no behavioural problems and her mood can be a little bit low.
Her past history is remarkable only for hypertension, which apparently was very high in the past. She has had multiple laparoscopies in the context of fertility treatment, she had had an appendicectomy and breast enlargement. She is now taking Requip XL 6mg a day, Trihexyphenidyl 2mg tds, Madopar, 150m9 twice a day and 100m9 twice a day, Entacapone 200m9 four times a day, Cetirizine 1Omg a day, Betahistine, Pregabalin for left hemibody nerve pains 25mg bd. Paracetamol and Dihydrocodeine for knee and hip pains, Bendrofiuazide, Lisinopril, Zopiclone and APO-go. She lives with her husband who is fit and well apart from ulcerative colitis, she had has no children, gave up smoking, aged twenty-two and now drinks minimal amounts of alcohol. There is no family history of Parkinson's disease known, although her father is estranged from the family.
Her examination showed normal eye movements, slightly quiet speech, normal quality. Lower cranial nerves were essentially normal. She has normal tone, power, reflexes and sensation throughout. She had finger dystonia on the right hand, mild bradykinetic movements in left hand, some subtle dyskinesia affecting her legs, but gait and balance were otherwise normal. There was no evidence of apraxia and no other major features of dystonia today.
She has an unusual phenotype especially given her age and the rapidity of onset and the high medication requirements. and the extent of the dystonia. This does appear to be Dopa responsive. She may have a mitochondrial type of Parkinson's disease such as PARKIN or PlNK1, or indeed may have a GCHl mutation (which can cause PD as well as a Dopa responsive dystonia phenotype). I am arranging genetics to be sent off, serum lactate, routine bloods, copper studies and acetylcholine receptor antibodies in view of her diplooia. I will also arrange for her to have an MRI scan, neuropsychology, up to date Levodopa challenge and spinal fluid examination to look for CSF
pterins , oligoclonal bands and CSF lactate. I will see her to further consider the wisdom of DBS with the results of these tests. We can test her for the GCH1 mutation should her MLPA be negative. Many thanks for the referral.
Kind regards,
Yours sincerely
Dr Tom Foltynie Consultant Neurologist