The MDS Young Members group showcases up to four papers per month on the MDS-YMG Facebook page. Group members are welcomed to post articles they feel may be of interest to young members directly to the YMG Facebook page wherein others can freely comment and give feedback. The MDS-YMG provides the full articles, where available and showcases the summaries on the MDS Website (as shown below).
By Roberto Erro, Maria Stamelou, Christos Ganos, Matej Skorvanek, Vladimir Han, Amit Batla, Kailash P. Bhatia
Movement Disorders Clinical Practice Vol 1, Issue 1
Review by Margherita Fabbri, MD
Summary
Paroxysmal movement disorders are a relatively rare and heterogenous group of conditions manifesting as episodic dyskinesia lasting a brief duration. Three forms are recognized, namely, paroxysmal kinesigenic (PKD), nonkinisegenic (PNKD), and exercise induced (PED). PED usually presents as a sporadic disease, frequently but not always associated to mutations in SLC2A1, encoding for glucose transporter type 1 (GLUT-1), even if autosomal dominant familiar cases have been described. In addition few reports described PED cases as presenting features of early-onset Parkinson’s disease (PD), as additional features of dopamine-responsive dystonia (DRD) or symptomatic cases. Erro and colleagues describe 16 clinically defined PED cases whose attacks were all dystonic or dystonic/choreic and affected the lower limbs. For 11 patients a conclusive diagnosis was made: 4 with GLUT-1 mutations, 4 with early PD, including 1 carrying a mutation in the Parkin gene, 2 with DRD resulting from mutations in the GCH1 gene, and 1 with a psychogenic/functional movement disorder. Based on the present series and previous publications authors propose a useful diagnostic and therapeutic algorithm that is basically founded on the following recommendations: a) exclude secondary PED causes with a cerebral MRI; b) perform a CSF investigations for glucose, lactate, pterins, and dopamine metabolites, if onset is in childhood; c) in the presence of a normal CSF, GLUT-1 and DRD are very unlikely, and a DaT-Scan should be performed to exclude PD.
According with the results of the previously mentioned investigations a genetic test should be subsequently required along with the beginning of a specific treatment that will be empirical in the case of an unknown etiology. Read Full Article
By Lama M. Chahine, MD and Matthew B. Stern, MD
Movement Disorders Clinical Practice Vol 1, Issue 4
Review by Santiago Perez Lloret, MD, PhD, CPI
Summary
Parkinson's disease (PD) signs and symptoms have been extensively described in the past 200 years. Moreover, clinicopathological correlation have allowed for the establishment of robust clinical criteria for diagnosis. Notwithstanding, the premotor phase of the disease has been neglected for a long time. It is becoming increasingly clear that it is essential that PD be detected earlier, before motor manifestations are present. Thus, for research purposes, a redefinition of PD into three phases, particularly on research grounds, has been proposed. These three phases include preclinical, premotor, and motor phases. Extensive characterization of each phase is lacking and should be established as soon as possible.
Data emerging from the cohorts of individuals thought to be “at risk” of PD suggest that the premotor phase might by characterized by: olfactory dysfunction; sleep disorders such as REM behavior disorder or restless leg syndrome; daytime somnolence; cognitive abnormalities; constipation; and depression or anxiety. Such abnormalities are hypothesized to result from extranigral pathology. Imaging abnormalities might include: Striatal dopamine deficiency as detected by SPECT; substantia nigra hyperechogenicity as detected by transcranial Doppler sonography; and hippocampal hyperperfusion in SPECT, among others. The authors highlight the need for multimodal biomarkers to further characterize the premotor syndrome and discuss advances in imaging and other tools for identifying premotor PD. Read Full Article