A case with 18p deletion and dystonia and review of the literature

18p deletion syndrome is a rare disorder which is accompanied with mental retardation, facial abnormalities and short stature. Dystonic findings are rarely seen and only 12 cases have been reported in the literature until now. We report here a 26 year old female complaining of spasms on her trunk and limb muscles. Genetic investigation revealed 18p deletion.

Smell identification scores of patients with essential tremor

It has been reported that patients with essential tremor have a much higher risk of Parkinson’s disease; moreover, olfactory dysfunction is common in Parkinson’s disease and becomes apparent early in the disease process. We aimed to investigate the olfactory function of essential tremor patients using the Short Smell Test Battery of GATA Haydarpaşa (GULTEST), which consists of five odors (banana, lemon, mint, rose, and chocolate). The participants in the study were 155 male essential tremor patients, 20–36 years of age (mean age: 21.2), and 290 male control subjects, 20–35 years of age (mean age: 21.1). The two groups were similar in terms of age, gender, and smoking history; their mean GULTEST scores were 3.41 and 3.4, respectively. Our results showed no loss of olfactory function in young male essential tremor patients.