Publications by authors named "Joan-Philipp Michelis"
Article Synopsis
- Identifying the cause of nonfamilial adult-onset progressive cerebellar ataxia is complex, involving both genetic and nongenetic factors.
- A 39-year-old woman exhibited progressive ataxia, cognitive decline, and other symptoms, leading to the discovery of elevated carbohydrate-deficient transferrin levels and a diagnosis of galactosemia after tests revealed decreased GALT enzyme activity.
- The case emphasizes the need to consider rare diseases in diagnosis and notes that while newborn screening exists, it doesn’t prevent long-term complications like ataxia tremor syndrome in some galactosemia patients.
Deep Brain Stimulation: When to Test Directional?
Mov Disord Clin Pract
March 2023
Background: Directional deep brain stimulation (DBS) allows for steering of the stimulation field, but extensive and time-consuming testing of all segmented contacts is necessary to identify the possible benefit of steering. It is therefore important to determine under which circumstances directional current steering is advantageous.
Methods: Fifty two Parkinson's disease patients implanted in the STN with a directional DBS system underwent a standardized monopolar programming session 5 to 9 months after implantation.
Background: Impulse control disorders (ICDs) are a frequent side effect of dopamine replacement therapy (DRT) in Parkinson's disease (PD). Reckless generosity might expand the spectrum of known ICDs.
Cases: Over 18 months, we encountered three PD patients exhibiting reckless generosity under DRT, leading to disastrous financial and social consequences.
Depression is the most important nonmotor symptom in blepharospasm (BL). As facial expression influences emotional perception, summarized as the facial feedback hypothesis, we investigated if patients report fewer depressive symptoms if injections of botulinum neurotoxin (BoNT) include the "grief muscles" of the glabellar region, compared to treatment of orbicularis oculi muscles alone. Ninety BL patients were included, half of whom had BoNT treatment including the frown lines.
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