Vol 6, No 4 (2012)

Primary blepharospasm (BS) is one of most frequent forms of focal dystonia characterized by excessive involuntary eye closure. Pathophysiology of primary BS remains obscure. The purpose of this study: to determine changes of the cerebral gray matter volume that may be pathogenically important in primary BS. We examined 23 right-handed patients with primary BS (6 males and 17 females) and 16 healthy age- and sex-matched individuals who underwent voxel-based morphometry (VOM) – a method of assessment of fine regional quantitative changes of gray matter volume. In 15 patients VOM studies were performed twice, before and one month after injections of botulinum toxin type A (BTA). Compared to controls, BS patients were characterized by the decrease in gray matter volume in the head of the right caudate nucleus, anterior and posterior lobes of the right cerebellar hemisphere, and the right fusiform gurus. Multiplefactor analysis did not show relationships between gray matter changes and age of patients, age at the debut of BS, and duration of the disease or BTA treatment. On repeat examination after local BTA injections in the circular orbicular muscles (aimed at reducing dystonic spasms in BS patients), the increase in gray matter volume in both fusiform gyri, the opercular parts of the left Rolandic gyrus, the right middle and the left inferior temporal gyri, the left inferior frontal gyrus, and the left cingular gyrus was observed. The obtained data demonstrate the presence of structural brain changes in primary BS, confirming a significant role of the striatum and the cerebellum in pathophysiology of this form of focal dystonia.

Huntington’s disease (HD) is one of the most severe hereditary neurodegenerative disorders caused by CAG repeats expansion in the HTT gene. A recently elaborated technology of genetic reprogramming allows obtaining induced pluripotent stem (iPS) cells from fibroblasts and other differentiated somatic cells. These iPS cells can grow in culture and differentiate in any cell types, including neurons, necessary for studies of molecular mechanisms of HD and other neurodegenerative diseases. We obtained, with the use of lentivirus transfection, iPS cells from primary fibroblasts biopsied from three female patients with HD (42–46 copies of the CAG repeats in the mutant allele). The efficiency of reprogramming was approximately 0.2%. The embryoid bodies were obtained from some clones of iPS cells, and derivatives of all the three embryo layers were shown to be formed as a result of spontaneous iPC cells differentiation. At present, our cell lines represent a unique platform for studies of HD. It may be used for establishing an effective system aimed at discoveries of molecular mechanisms undelaying HD and high-throughput search for novel neuroprotective drugs.

Current experimental models of the blood-brain barrier (BBB) in vitro used for studying mechanisms of permeability and intercellular communication are discussed in this review. At present, monolayer, multilayer and computer models are in use for the above-mentioned purposes. Primary isolated cells that make up the models in vitro may have brain and non-brain origin. In addition, transplantable cell lines and co-cultured cells could be used for modeling BBB in vitro.

Mirror is a well-established tool in the movement rehabilitation, providing real-time visual feedback to assist in the retraining. However, mirror visual feedback may be used also in therapy in its own right. The “mirror therapy” (MT) is a method based on creating artificial visual feedback. MT was proposed for treating pain syndrome, such as phantom pain and complex regional pain syndrome of type 1 and 2, as well as for motor rehabilitation in stroke patients with hemiparesis and in patients after arm surgery. The main principle of MT is thought to be restoration of damaged feedback from ill/amputated limb. One of possible mechanisms of MT is activation of “mirror neurons”, acting both during execution and observation of action. Clear advantages of MT are its simplicity, availability and, most importantly, its patient-directed character.

Speech problems are the second most significant defect (after movement disorders) in patients suffering from stroke. According to stroke registry data from Research Center of Neurology RAMS, in the acute phase of stroke aphasia occurs in 36.9% of cases, and dysarthria in 13%. In this paper, a clinical example of amnestic aphasia syndrome with literal agnosia and alexia is presented, and foreground methods of correction directed to restoration of abnormal functions in this relatively rare form of speech disorders are discussed. Following medication therapy and daily logopedic training with the use of an adequate personal program, the patient clearly succeeded in alleviating  the literal agnosia and forming the letter image.