Vol 1, No 3 (2020)


Huntington’s disease

Klyushnikov S.A.


Huntington’s disease is one of the most common hereditary neurodegenerative diseases, which remains practically incurable, inevitably leading to the disability of patients and premature death. A fairly wide prevalence in the world, the special severity of the course, the almost complete penetrance of the mutant gene, the peculiarity of clinical and genetic correlations in Huntington’s disease have attracted researchers specializing in neuroscience for many years. The study of the molecular neurobiology of Huntington’s disease over the past decades has largely contributed to significant progress in molecular biology, genetics, and many other biomedical disciplines. At the same time, Huntington’s disease has become a “model” disease in resolving issues of genetic counseling and prognostic testing in modern medical genetics. The review provides brief facts on the history of the study of the disease, including mapping and identification of the mutant gene. The issues of etiology and pathogenesis, molecular genetics of the disease, epidemiology, diagnostics, and differential diagnostics are discussed in detail. The spectrum of clinical manifestations of Huntington’s disease, its various forms, and course features are presented. From a modern perspective, the problem of developing valid biomarkers of both the manifest and the asymptomatic stages of the disease, as well as the course of the pathological process, are highlighted. The main issues of primary and secondary prevention of Huntington’s disease, bioethical principles of conducting genetic counseling for families burdened by this disease are outlined. The approaches to the symptomatic treatment of Huntington’s disease are described, a review of the main promising experimental therapeutic methods that can potentially slow down or stop the progression of the disease, as well as prevent its manifestation in asymptomatic carriers of the mutant gene, are presented. An important contribution of patient organizations to addressing issues affecting the interests of burdened families, scientific and clinical research on the disease was noted. Literature was searched and analyzed using the databases of Scopus, Web of Science, Pubmed (MedLine), eLibrary.

L.O. Badalyan Neurological Journal. 2020;1(3):139-158
pages 139-158 views

Merosin-deficient muscular dystrophy: pathogenesis, clinical manifestations and therapeutic strategies

Monakhova A.V., Vlodavets D.V., Zavadenko N.N., Belousova E.D., Kazakov D.O., Baranich T.I., Sukhorukov V.S., Kupriyanova A.G.


Merosin-deficient muscular dystrophy is the most common form of congenital muscular dystrophies (СMD), characterized by genetic heterogeneity and a severe course in most cases. CMD pathogenesis is associated with a partial or complete absence of laminin α2 chains in the basal membrane of muscle fiber caused by a mutation in the LAMA2 gene. The clinical manifestations of LAMA2-associated muscular dystrophy vary from severe СMD (СMD 1A) with an early onset to a relatively mild course with a late onset and phenotype of limb-girdle muscular dystrophy. CMD type 1A is characterized by a delay in motor development from the first months of the life (while the vast majority of children do not master the ability to walk independently), facial muscles weakness, ptosis, ophthalmoplegia, spine rigidity, early occurrence of contractures in the shoulder, elbow, hip and knee joints, restrictive respiratory disorders, nutritional problems, such as disorders of swallowing and chewing, gastroesophageal reflux, low body weight; some children suffer from mental retardation and epilepsy.

L.O. Badalyan Neurological Journal. 2020;1(3):159-168
pages 159-168 views

Current data on early diagnosis of West syndrome. Electroencephalographic evolution of hypsarrhythmia

Aysina V.A., Kuzenkova L.M., Kozhevnikova O.V.


The review of current ideas about the early diagnosis of West syndrome is presented in terms of electroencephalography data based on a characterization of the period of «prehypsarrhythmia» preceding the appearance of the pattern of hypsarrhythmia. There are considered examples of our observations. Also, our data from a study of a group of children with hypsarrhythmia are described. A lot of studies of clinical manifestations and neurophysiological aspects of West syndrome have been conducted after the onset of clinical manifestations in the form of spasms, and variants of the transformation of West syndrome have been reported. On the other hand, very few studies of its clinical and electroencephalographic evolution have been conducted since the prehypsarrhythmic stage. The opportunity to reliably identify this precursor period would be the first step towards early diagnosis of West syndrome. Early prediction and subsequent intervention in West syndrome will have significant predictive value. A retrospective analysis of 68 electroencephalographic studies was conducted at the

National Medical Research Center for children’s health. Based on the preliminary data of our study, we can distinguish a period of 1 to 3 months, during which in most children, the EEG pattern from “prehypsarrhythmic” in the form of multi-regional epileptiform activity with an average representation index or regional epileptiform activity in the parietal-occipital-posterior parts with a low representation index transforms to a pattern of hypsarrhythmia. It seems appropriate to recommend that newborns with structural brain disorders, premature infants, children with multi-regional epileptiform activity, with regional epileptiform activity in the parietal-occipital-posterior parts (even low index) to be observed with regular video EEG monitoring at least once every 1-2 months, to early detect the pattern of hypsarrhythmia and West syndrome.

L.O. Badalyan Neurological Journal. 2020;1(3):169-176
pages 169-176 views


Headaches in children: a clinical lecture

Ermakova P.A., Kotov A.S.


Headaches are perhaps the most common complaint in children. Unfortunately, often not enough attention is paid to this complaint. Often, primary headache (tension headache, migraine) is interpreted as a symptom of a neurological or other disease, less often the opposite. Not enough attention is paid to the collection of an anamnesis, which determines the correct diagnosis for 90%. Despite its high prevalence, most of our knowledge about pathophysiology, diagnostic criteria and treatment methods is based on extrapolation of the results of studies conducted on adult patients. These extrapolations should be carried out carefully in the pediatric age group, since there are significant differences between children and adults in relation to the development and maturation of neuronal networks, psychosocial development and status, and therefore the pathophysiology and prevalence of various types of headaches. These differences, with respect to the type and manifestations of headaches in children and adolescents, can shed light on the progression of childhood headaches in adulthood.

We present a description of the clinical picture, diagnostic criteria, and treatment features for the most typical forms of headaches in children: tension headaches, migraines, infectious diseases (including meningococcal meningitis), diseases of ENT organs, urgent conditions, such as traumatic brain injury and subarachnoid hemorrhage. Also, attention is paid to some genetic syndromes — CADASIL and MELAS. Special attention is paid to the so-called “red flags” — dangerous symptoms that require immediate diagnostic or treatment procedures. The lecture presents the practical features of the clinical and neurological examination of children with headache complaints, modern classifications of tension and migraine headaches, age-specific prescribing algorithms, illustrations including the results of MRI, external examination of patients, and the course of various forms of headache.

L.O. Badalyan Neurological Journal. 2020;1(3):177-187
pages 177-187 views

Clinical case reports

Noonan-like syndrome with loose anagen hair: three clinical cases

Zhurkova N.V., Kazakova K.A., Varichkina M.V., Kulebina E.A., Surkov A.N., Kondakova O.B., Uvakina E.V., Pushkov A.A., Savostyanov K.V.


Noonan-like syndrome with loose anagen hair is a rare inherited disease caused by heterozygous mutation in the SHOC2 gene. The disease was first described in 1991. The main clinical manifestations of the disease are phenotype features similar to those observed in Noonan syndrome: orbital hypertelorism, eyelid ptosis, low-set, and posteriorly rotated auricles, as well as skin and hair lesions, development delay, loose anagen hair, cardiovascular disorders, and mental retardation. It has an autosomal dominant mode of inheritance. We have described three clinical cases of this disease for the first time in Russia. All children in this group had a Noonan-like phenotype, macrocephaly, wide, short neck, hair and skin lesions, congenital heart disease, development delay of different severity, and hypotonia. One child had hypertrophic cardiomyopathy, nonobstructive form, aneurysmal dilatation of interatrial septum, minor dilation of the pulmonary artery and atria, apical aneurysm other cases showed a congenital defect of the urinary system. These patients have thin, sparse, slowly growing hair, dark skin. One girl was diagnosed with multiple capillary haemangiomas on her head and trunk. Pathogenic nucleotide variant c.4A>G, p.S2G in heterozygous state of the SHOC2 gene was revealed in all our patients. The same was described previously in patients with this syndrome. Differential diagnosis at suspicion on Noonan-like syndrome with loose anagen hair should be carried out with Noonan syndrome, Cardiofaciocutaneous syndrome (CFC), Costello syndrome.

L.O. Badalyan Neurological Journal. 2020;1(3):188-196
pages 188-196 views

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