“
“Background\n\nDarier’s disease (OMIM 124200) is an autosomal-dominant skin disorder characterized by warty papules and plaques in seborreheic areas, palmo-plantar pits and distinctive nail abnormalities. The disease has complete penetrance in adults and variable expressivity. It is caused by mutations in the ATP2A2 gene,

which encodes the sarco/endoplasmic reticulum Ca<SU2+</SU ATPase type 2 isoform (SERCA2).\n\nObjective\n\nWe report histological investigations Selleck AZD6094 of six unrelated Tunisian families including 15 affected individuals with Darier’s disease mutations.\n\nResults\n\nThe typical histological features of Darier’s disease have been observed in the 15 patients. Variable histological features have been observed among Tunisian patients ranging from mild to moderate lesions of Darier’s disease. A buy SRT2104 significant correlation has been observed between the clinical presentation of the Darier’s disease (mild or moderate) and the intensity of the histological features. Isolated acral form of Darier’s disease was seen in one case. Two distinct original associations have been observed: Darier’s disease/pemphigus vulgaris in one patient and Darier’s disease/ichtyosis in the other patient.\n\nConclusion\n\nOur findings confirmed the clinical heterogeneity of Darier’s disease on the basis of histological

study. The intensity of the histological features could be closely correlated to the severity

of Darier’s disease clinical presentation.”
“Background: The association between sleep disorders and other non-motor symptoms (NMS) in Parkinson’s disease (PD) has been scarcely investigated.\n\nObjective: To describe the prevalence of insomnia and hypersomnia in PD and analyze INCB024360 their relationship with other NMS.\n\nMethods: Cross-sectional, multicenter study including 388 PD patients evaluated with Hoehn and Yahr, Clinical Impression of Severity Index for PD, Scales for Outcomes in Parkinson’s Disease (SCOPA)-Sleep(S), SCOPA-Cognition, SCOPA-Psychiatric Complications, SCOPA-Autonomic, Hospital Anxiety and Depression Scale, and fatigue and pain visual analogue scales. Spearman correlation coefficients, Mann-Whitney test and multiple linear regression analysis were applied.\n\nResults: Mean age (54% male) was 65.9 +/- 11.2 years old, with disease duration of 8:1 +/- 6.0 years and median HY = 2 (range: 1-5). Mean SCOPA-S nocturnal sleep (NS) was 5.4 +/- 4.0 (range: 0-15), daytime sleepiness (DS) was 3.76 +/- 3.04 (range: 0-15). Most of the sample declared nocturnal or daytime sleep problems (87.4%). Weak-to-moderate correlations were found between sleep disturbances and other NMS (range: 0.14-0.37). SCOPA-S subscales showed higher scores with the presence of most other NMS such as psychiatric complications and autonomic dysfunctions (p < 0.05).