Sequential motion rate and oral reading rate: normative data for Greek and clinical implications.

INTRODUCTION: The aim of the present study was to provide normative data in Greek, regarding sequential motion rate (SMR) and oral reading rate (ORR), and to show the sensitivity of both tasks to predict Parkinson's disease (PD). METHODS: The speech rate of sixty-five healthy control participants was recorded and analyzed using speech acoustics. The speech rate of a subsample of 20 healthy control participants was compared to the speech rate of 20 pair-matched dysarthric parkinsonian participants. All participants produced the syllables /pataka/ (SMR task) as quickly as possible and read aloud a standard Greek passage (ORR task). RESULTS: In normative data, the mean score for the SMR variable was 4.91 syllables per second (SD = 0.73) and for the ORR variable was 4.42 syllables per second (SD = 0.87). The Mann-Whitney test showed significant differences between the two groups of participants in the SMR (U = 64.000, Z = -4.60, p < .001) and ORR (U = 77.000, Z = -4.36, p < .001). Multiple binary logistic regression analysis examined the combined effect of ORR and SMR on the occurrence of the disease. The sensitivity of both tasks to predict PD was found to be 0.88 and the specificity 0.90. The optimal screening cutoff point was found to be 4.66 syllables/second for the SMR task and 2.79 syllables/second for the ORR task. CONCLUSIONS: This study provided Greek normative data in SMR and ORR tasks. Both tasks showed high sensitivity and specificity to predict PD in the Greek sample of participants.

Epidemiology of Huntington disease in Cyprus: A 20-year retrospective study.

Huntington disease (HD) is most prevalent among populations of western European descent and isolated populations where founder effects may operate. The aim of this study was to examine the epidemiology of HD in Cyprus, an island in southern Europe with extensive western European colonization in the past. All registered HD patients in the Cyprus, since 1994, were included. Detailed pedigrees and clinical information were recorded and maps, showing the geographic distribution of HD, were constructed. Requests for genetic testing were also examined. The project identified 58 clinically manifested cases of HD belonging to 19 families. The 16 families of Cypriot origin were concentrated in a confined geographical cluster in southeast Cyprus. In 2015, prevalence of symptomatic HD was 4.64/100 000 population, while incidence was 0.12/100 000 person-years. Prevalence displayed a marked increase during the past 20 years. Disease characteristics of HD patients were similar to those reported in western European populations. Lastly, the uptake of predictive and/or prenatal testing was limited. HD disease characteristics, incidence and prevalence in Cyprus were comparable to western European populations. Together with the geographical clustering observed, these results support the possibility for a relatively recent founder effect of HD in Cyprus, potentially of western European origin.

Embryonic stem cells and prospects for their use in regenerative medicine approaches to motor neurone disease.

Human embryonic stem cells are pluripotent cells with the potential to differentiate into any cell type in the presence of appropriate stimulatory factors and environmental cues. Their broad developmental potential has led to valuable insights into the principles of developmental and cell biology and to the proposed use of human embryonic stem cells or their differentiated progeny in regenerative medicine. This review focuses on the prospects for the use of embryonic stem cells in cell-based therapy for motor neurone disease or amyotrophic lateral sclerosis, a progressive neurodegenerative disease that specifically affects upper and lower motor neurones and leads ultimately to death from respiratory failure. Stem cell-derived motor neurones could conceivably be used to replace the degenerated cells, to provide authentic substrates for drug development and screening and for furthering our understanding of disease mechanisms. However, to reliably and accurately culture motor neurones, the complex pathways by which differentiation occurs in vivo must be understood and reiterated in vitro by embryonic stem cells. Here we discuss the need for new therapeutic strategies in the treatment of motor neurone disease, the developmental processes that result in motor neurone formation in vivo, a number of experimental approaches to motor neurone production in vitro and recent progress in the application of stem cells to the treatment and understanding of motor neurone disease.