SOD1-Related Cerebellar Ataxia and Motor Neuron Disease: Cp Variant as Functional Modifier?

We describe a novel superoxide dismutase (SOD1) mutation-associated clinical phenotype of cerebellar ataxia and motor neuron disease with a variant in the ceruloplasmin (Cp) gene, which may have possibly contributed to a multi-factorial phenotype, supported by genetic and protein structure analyses.

Insights into Pathophysiology from Medication-induced Tremor.

Background: Medication-induced tremor (MIT) is common in clinical practice and there are many medications/drugs that can cause or exacerbate tremors. MIT typically occurs by enhancement of physiological tremor (EPT), but not all drugs cause tremor in this way. In this manuscript, we review how some common examples of MIT have informed us about the pathophysiology of tremor. Methods: We performed a PubMed literature search for published articles dealing with MIT and attempted to identify articles that especially dealt with the medication's mechanism of inducing tremor. Results: There is a paucity of literature that deals with the mechanisms of MIT, with most manuscripts only describing the frequency and clinical settings where MIT is observed. That being said, MIT emanates from multiple mechanisms depending on the drug and it often takes an individualized approach to manage MIT in a given patient. Discussion: MIT has provided some insight into the mechanisms of tremors we see in clinical practice. The exact mechanism of MIT is unknown for most medications that cause tremor, but it is assumed that in most cases physiological tremor is influenced by these medications. Some medications (epinephrine) that cause EPT likely lead to tremor by peripheral mechanisms in the muscle (ß-adrenergic agonists), but others may influence the central component (amitriptyline). Other drugs can cause tremor, presumably by blockade of dopamine receptors in the basal ganglia (dopamine-blocking agents), by secondary effects such as causing hyperthyroidism (amiodarone), or by other mechanisms. We will attempt to discuss what is known and unknown about the pathophysiology of the most common MITs.

Delusional Infestation in Parkinson's Disease.

Delusional infestation (DI), a form of psychosis, has rarely been reported in patients with Parkinson disease (PD). The clinical presentation and successful treatment of DI is illustrated through 5 cases. Each patient developed DI during treatment for moderate to advanced Parkinson's disease, and only 2 had cognitive impairment. Two patients were on monotherapy: 1 on a dopamine agonist and the other on trihexyphenidyl. Three patients were receiving complex combination therapy with 2 to 5 different anti-Parkinsonian medications at the onset of their delusion. Selective discontinuation or reduction of these medications was key to the resolution of DI in each patient. Although the medication adjustments differed, the changes resulted in the reduction of anticholinergic effects or extracellular striatal dopamine levels. This series emphasizes the clinical features and management strategies for this disruptive form of psychosis in patients with PD.