2011, Vol 11, No 1
Cognitive function disorders in cerebellum stroke versus crossed diaschisis – case report
AKTUALN NEUROL 2011, 11 (1), p. 18-22
ABSTRACT

Cerebellum coordinates skilled voluntary movements, and controls motor tone, posture and gain. However, anatomical, clinical, and neuroimaging studies conducted over the past decades have shown that the cerebellum is implicated in diverse higher cognitive functions, such as language, memory, visuospatial skills, executive functions and emotional regulation of behaviour. Anatomy and functional magnetic imaging studies indicate a link between right cerebellum and the left frontal regions. Crossed cerebello-cerebral diaschisis, reflecting a functional depression of supratentorial areas due to reduced input via cerebello-cortical pathways, may represent the neuropathological mechanism responsible for cognitive and speech deficits associated with cerebellar pathology. Damage to the cerebello-cortical loop brings about comportments that resemble those of injury to the cerebral cortical areas subserved by that loop. Rather than generating cognitive processes, the cerebellum is considered to modulate cognitive functions through the feed-forward loop of the cortico-ponto-cerebellar system and the feedback loop of the cerebello-thalamo-cortical pathways. The authors present 58 years old patient with a hemorrhagic stroke in the right cerebellar hemisphere with cognitive impairment in domains of memory, language and speech and attention.

Keywords: cerebellum, stroke, cognitive function, speech, crossed cerebello-cerebral diaschisis
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Creutzfeldt-Jakob disease and its subtypes
AKTUALN NEUROL 2011, 11 (1), p. 29-37
ABSTRACT

Creutzfeldt-Jakob disease (CJD) is the most common type of human prion disease. Similarly to other prion diseases, Creutzfeldt-Jakob disease is incurable and invariably fatal disorder. The disease is clinically, molecularly and neuropathologically heterogeneous. Apart from familial, iatrogenic and variant CJD there are at least 6 subtypes of sporadic form of CJD. The typical triad of clinical symptoms of sCJD (rapidly progressive dementia, myoclonus, typical EEG) is not always present. The definite disease still can be diagnosed only by neuropathological or molecular analysis of the brain tissue. Taking into consideration that brain biopsy is rarely performed in prion diseases, most definite diagnoses are done post mortem. Nevertheless, the clinical diagnosis can be improved by using the new diagnostic criteria based on MRI findings, EEG, 14-3-3 protein test and clinical symptoms. All suspected cases should be monitored and the history of surgery, endoscopy, blood transfusion and family cases should be taken.

Keywords: prion, prion diseases, Gerstmann-Sträussler-Scheinker disease, Creutzfeldt-Jakob disease, neuropathology, imaging
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14-3-3 protein in diagnostics of sporadic Creutzfeldt-Jakob disease
AKTUALN NEUROL 2011, 11 (1), p. 38-43
ABSTRACT

Creutzfeldt-Jakob disease (CJD) belongs to a group of transmissible spongiform encephalopathies in which neuropathological confirmation is needed for a definite diagnosis. Based on clinical symptoms, the disease can be characterized only as possible or probable. The diagnostic criteria for sporadic CJD (sCJD) approved by the World Health Organization include 14-3-3 protein as a marker detectable in the cerebrospinal fluid (CSF). Since 2010, also magnetic resonance FLAIR or DWI imaging has been included in the criteria for sCJD. 14-3-3 protein is a normal neuronal protein released to the CSF as a result of extensive neuronal damage. As it is a non-specific marker, a positive result gives no information about the reason of the neuronal death. The test for 14-3-3 protein is useful only when considered in an appropriate clinical context, together with other diagnostic criteria. In certain conditions, false negative as well as false positive results are possible. The 14-3-3 protein is detected in about 90% of sporadic CJD cases, whereas the result is positive in only 50% of variant CJD patients, therefore this analysis is less useful in the diagnostics of vCJD.

Keywords: Creutzfeldt-Jakob disease, 14-3-3 protein, biochemical marker, cerebrospinal fluid, diagnostic tests
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Variant Creutzfeldt-Jakob disease: an update
AKTUALN NEUROL 2011, 11 (1), p. 44-48
ABSTRACT

Prion diseases, a group of infectious, fatal neurodegenerations comprise kuru, Creutzfeldt-Jakob disease (CJD), Gerstmann- Sträussler-Scheinker disease (GSS) and fatal familial insomnia (FFI) in man, scrapie in sheep, goats and mouflons, bovine spongiform encephalopathy (BSE) or mad cow disease and chronic wasting disease in elk and mule deer. Variant Creutzfeldt- Jakob disease (vCJD) is a novel human prion disease caused by the bovine spongiform encephalopathy agent. Most cases have occurred in the UK, with smaller numbers in 11 other countries. In Poland, vCJD has not beet observed. All definite vCJD cases have occurred in methionine homozygotes at codon 129 in the prion protein gene (PRNP). Following oral infection, the vCJD agent replicates in lymphoid tissues during the asymptomatic phase of the incubation period. At present, four probable cases of vCJD infection have been identified following transfusion of red blood cells from asymptomatic donors who subsequently died from vCJD. Recently, one case of likely transmission of vCJD infection by UK Factor VIII concentrates has been reported in an elderly haemophilic patient in the UK. The recent report of a blood test that may be used to detect vCJD has raised the possibility of a new way to identify infected individuals, perhaps even before the onset of clinical symptoms.

Keywords: variant CJD, prion, prion protein, blood, plasma, transfusion
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Gerstmann-Sträussler-Scheinker disease
AKTUALN NEUROL 2011, 11 (1), p. 49-63
ABSTRACT

Gerstmann-Sträussler-Scheinker disease (GSS) is a hereditary form of prion disease. GSS, in particular the form caused by the PRNP gene P102L mutation, is transmissible to primates and rodents. Thus, GSS is a unique disease that is both genetic and transmissible; however, the exact nature of the transmissible agent is not clear. The clinical picture of GSS comprises cerebellar ataxia, dementia and pyramidal and extrapyramidal signs and symptoms. However, the disease is heterogeneous and in different families and different mutations the clinical picture may vary. The neuropathological picture is characterized by the presence of amyloid plaques – mainly multicentric plaques. There are several models of GSS in transgenic mice and in Drosophila sp. In mice produced with an overexpressed transgene that carries the P101L mutation (corresponding to the P102L mutation in humans), “spontaneous” neurodegeneration is observed and this, in turn, is transmissible but to transgenic mice with a low copy number. In contrast, P101L transgenic mice produced by means of reciprocal recombination show no spontaneous neurodegeneration, but instead become more susceptible to transmission of human GSS following inoculation.

Keywords: Gerstmann-Sträussler-Scheinker disease, GSS, prions, multicentric plaques, prion protein, PrP, Creutzfeldt- Jakob disease
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DNA oxidative damage in Alzheimer’s and Creutzfeldt-Jakob disease
AKTUALN NEUROL 2011, 11 (1), p. 64-67
ABSTRACT

The loss of nerve cells and the accumulation of pathological protein deposits comprise the common features of Alzheimer’s disease (AD) and Creutzfeldt-Jakob disease (CJD). Despite our constantly broadening knowledge of the pathogenesis of neurodegenerative diseases, the precise molecular mechanisms of the pathological processes underlying this group of diseases still remain to be unambiguously elucidated. Recently, evidence suggesting a crucial role for the oxidation stress in the development of these neurodegenerative diseases has significantly increased. An association between the accumulation of pathological protein deposits and increased generation of reactive oxygen species has been proposed in both AD and CJD. In the light of increasing evidence documenting the occurrence of DNA damage as a consequence of oxidative stress, involvement of DNA repair genes in the pathogenesis of these diseases was implicated. The product of OGG1, APE1 and XRCC1 genes play various roles in the removal of oxidative-stress-induced DNA damage, and in the protection of cells against the consequences of oxidative stress, including cell death. The enzymes comprising the DNA repair system play a significant role in maintaining an intact genome. Therefore, the dysfunction of this system or its partial impairment may lead to an accumulation of errors which ultimately lead to cell death.

Keywords: oxidative stress, DNA damage, DNA repair genes, Alzheimer’s disease, Creutzfeldt-Jakob disease
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Current opinions of pathogenesis and treatment of fatigue syndrome in multiple sclerosis
AKTUALN NEUROL 2011, 11 (1), p. 23-28
ABSTRACT

Fatigue, defined as subjective lack of energy to start and continue any activity without any connections with depression and muscular weakness, is one of the most common and troublesome symptoms of multiple sclerosis (MS). It concerns almost all patients, and in approximately half of them it is a major symptom. It may occur in cases of patients with little neurological symptoms and significantly affect the quality of life. In spite of intensive researches in last years pathophysiology of fatigue syndrome has not been enough recognized. The role of various mechanisms has been suggested: local prefrontal cortex and basal ganglia atrophy, changes in activity of B lymphocytes, disturbances of glutaminergic transmission caused by proinflammatory cytokines (TNF-α, IL-1β and IL-6), hypothalamic-pituitary-adrenal axis dysfunction, disturbances of astroglia metabolism with dehydroepiandrosteron (DHEA) decreased level and decreased levels of neurotransmitters noradrenaline and serotonin as well. The diagnosis of fatigue syndrome is based on anamnesis,physical examination, screening laboratory tests and evaluation by means of scales, for example Fatigue Severity Scale (FSS), Modified Fatigue Impact Scale (MFIS). The necessary condition is to exclude depression or additional organic conditions (anaemia, cardiovascular disorders, kidney diseases or hypothyroidism). Treatment of fatigue is not sufficiently effective. Pharmacological treatment leads to slight improvement although recent clinical trials with modafinil and fampridine have given promising results. Beneficial influence of physical exercises, cryotherapy and magnetotherapy has been observed. What may help in therapy is emotional support, cognitive-behavioural therapy and psychotherapy as well as avoidance of factors which may increase fatigue such as fever, anxiety, depression, pain, sleep disturbances, and also some drugs like opiates and benzodiazepines.

Keywords: multiple sclerosis, fatigue syndrome, pathophysiology, diagnosis, treatment
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Disorders of the balance system and hearing organ as symptoms of systemic diseases
AKTUALN NEUROL 2011, 11 (1), p. 13-17
ABSTRACT

The study aimed at the retrospective analysis of the patients with disorders of the balance system and/or hearing organ in the course of systemic diseases. Among 1,208 patients (727 women and 481 men) who were hospitalised in the Department of Otolaryngology and Laryngological Oncology with Audiological and Phoniatric Units at Military Medical Academy University Clinical Hospital in Lodz within the years 2009-2010 and revealed disorders of the balance system, tinnitus and/or hearing impairment, 300 case histories were chosen randomly, including 182 women aged 20-85 and 118 men aged 17-90. Each patient underwent a detailed interview, otorhinolaryngological and otoneurological examination, tonal, verbal and impedance audiometry, suprathreshold audiometric tests (SISI, TDT), tinnitus intensity and frequency evaluation, auditory brainstem response (ABR), videonystagmography (pendulum tracking, positional nystagmus described in five positions by Nylen, evaluation of nystagmus provoked by a thermal stimulation in Fitzgerald-Hallpike bicaloric testing), additional imaging studies of the head and/or cervical spine, including cranial arteries ultrasonography and routine laboratory tests. Among all the systemic diseases the diseases of the balance system were most common in both sexes (women – 41.76%, men – 44.91%, 43% altogether). Endocrine diseases were the second most often disorders (20.67%) and occurred more often in women (28.02%) than in men (9.32%). Neurological diseases were present in 8.33% of the cases (women – 10.44%, men – 5.08%). Malignant neoplasms were found in 4.3% of the cases, whereas autoimmune diseases occurred highly infrequently (2.33%). A number of the systemic diseases was accompanied by concomitant disorders of the balance system and hearing organ. Every physician, particularly GP, should take into consideration possible vertigo, tinnitus and hearing deterioration in the course of the systemic diseases.

Keywords: vertigo, tinnitus, hearing loss, systemic diseases, laryngologic diagnostic
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