Congenital amusia-pathology of musical disorder.

Amusia also known as tone deafness affects roughly 1.5% population. Congenital amusia appears from birth and lasts over life span. Usually, it is not associated with other diseases. Its link to hearing impairment has been definitively excluded. Neurobiological studies point to asymmetrical processing of musical signals in auditory cortex of left and right brain hemispheres. The finding was supported by discovering microlesions in the right-side gray matter. Because of its connection with asymmetry, amusia has been classified to disconnection syndromes. Alternatively to the neurobiological explanation of amusia background, an attention was turned to the significance of genetic factors. The studies done on relatives and twins indicated familial aggregation of amusia. Molecular genetic investigations linked amusia with deletion of 22q11.2 chromosome region. Until now no specific genes responsible for development of amusia were found.

Red ear syndrome - case report and review of literature.

Red ear syndrome is characterized by: paroxysmal, unilateral, recurrent pain, redness and discomfort of the ear lobe accompanied by a burning sensation. The duration and frequency of red ear syndrome attacks is very various and the episodes, usually occur spontaneously. The pathophysiology is still unknown and also there are no medications with approved efficacy. The goal of this brief report is to present a 11-year old girls whose symptoms of red ear syndrome preceded migraine without aura and the signs of redness of the ear occurred in clusters. The occurrence of symptoms of our case may have confirmed the observation that red ear syndrome is associated with primary headaches particularly migraine and cluster headaches. The literature on this case report of pediatric idiopathic red ear syndrome has been reviewed.

Ten new ATM alterations in Polish patients with ataxia-telangiectasia.

Inherited biallelic mutations of the ATM gene are responsible for the development of ataxia telangiectasia (AT). The objective of the present study was to conduct molecular analysis of the ATM gene in a cohort of 24 Polish patients with ataxia-telangiectasia with aim being to provide an updated mutational spectrum in Polish AT patients. As a result of molecular analysis, the status of recurrent mutation was confirmed and ten new ATM variants were detected. Application of MLPA analysis allowed the detection of large genomic deletion. Previously, this type of mutation had never been seen in our population. Finally, in silico analysis was carried out for newly detected ATM alterations. In addition, functional analysis was performed to evaluate the effects of intronic variants: c.3402+30_3402+32delATC.