Clinical Neuroscience

[Clinical, radiological and genetic aspects of leukodystrophies]

LÁSZLÓ A1, ELPELEG ON2, HORVÁTH K3, JAKOBS C4, KÓBOR J1, GAL A5, BARSI P6, KELEMEN A6, SARACZ J7, SVÉKUS A8, TEGZES A9, VÖRÖS E10

JULY 20, 2010

Clinical Neuroscience - 2010;63(07-08)

[The authors summarize the pathomechanism of the myelination process, the clinical, radiological and the genetical aspects of the leukodystrophies, as in 18q deletion syndrome, adrenoleukodysrtophy, metachromatic leukodystrophy, Pelizaeus-Merzbacher leukodystrophy, Alexander disease and olivo-ponto-cerebellar atrophy (OPCA).]

AFFILIATIONS

  1. University of Szeged, A. Szent-Györgyi Medical Centre, Department of Pediatrics, Szeged
  2. Metabolic Disorders Unit, Shaare Zedek Medical Centre Jerusalem, Jerusalem
  3. Radiological Clinic, Semmelweis University, Budapest
  4. Metabolic Unit of Department Clinical Chemistry, University Medical Centre, Amsterdam, Nederland
  5. Institute of Human Genetics, Hamburg-Eppendorf, Germany
  6. Semmelweis University, Department of Neurology, Budapest
  7. Pál Heim Hospital, Department of Child’s Neurology, Budapest
  8. Kálmán Pándy, County Hospital, Department of Pediatrics, Gyula
  9. Bethesda Hospital, Department of Neurology, Budapest
  10. University of Szeged, Department of Radiology, Szeged

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Clinical Neuroscience

[Donáth Gyula scientific grant]

SZUPERA Zoltán

[Donáth Gyula scientific grant 2010;63(07-08)]

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[Neurological and psychiatrical prospects of apathy]

GYURIS Jenő

[During his long practice as head physician of a neurological and psychiatrical department with over 100 beds performed the examination and department of more than a hundred thousand patients. Based on the acquired experience and the data of the most recent literature he treats every aspect of the apathy syndrome. He emphasizes the multidisciplinary approach during both establishing the causes and the examination and treatment of patients. In order to clarify the diagnosis consultations with other disciplines must be used as well as the the knowledge provided by the now essential CT, MRI, PET, SPECT. The author discusses the international therapeutical possibilities and practice after the recently alredy possible exact diagnosis.]

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[Prophylactic migraine treatment with topiramate]

NAGY Ferenc

[Migraine is a very common disorder characterized by the combination of typical headache with associated autonomic symptoms and ranked by the WHO as number 19 among all diseases worldwide causing disability. Considerable progresses have been made in recent years to understand the pathophysiology of migraine, which has led to improved treatment options for the acute migraine attack as well as migraine prophylaxis. When headaches are frequent or particularly severe, prophylactic therapy should be considered, however preventive treatment is often insufficient to decrease migraine frequency substantially or is not well tolerated. The present paper summaries the possible drug treatment options which have the A level of evidence for effective preventive therapy of migraine. Summarises the evidences for the prophylactic migraine treatment, specially the role of the newly approved topiramate in the prophylaxis.]

Clinical Neuroscience

[Immune responses and neuroimmune modulation in the pathogenesis of acute ischemic stroke and poststroke infections]

PAPP Viktória, MOLNÁR Tihamér, BÁNÁTI Miklós, ILLÉS Zsolt

[Acute-onset cerebrovascular diseases are connected to a number of immunological changes. Here, we summarize immune responses participating in the evolution of atherosclerotic plaques and poststroke local immune responses in the injured CNS as well as in the systemic circulation. Ischemic injury of the CNS alters the balanced neuroimmune modulation resulting in CIDS, the central nervous system injury-induced immune deficiency syndrome. Due to the immunodepression and reduced pro-inflammatory immune responses, the susceptibility for infection is increased; indeed, poststroke infection plays a major role in stroke-related mortality. On the other hand, CIDS may protect against damaging autoimmune responses elicited by exposed CNS antigens. Investigation of immune responses related to ischemic stroke may result in novel therapies indicated by an increasing number of experimental and clinical trials altering poststroke immune responses and preventing infections.]

Clinical Neuroscience

[The effect of Stalevo-dosing on quality of life of parkinsonian patients with wearing-off]

BOKOR Magdolna, SZENTESI Annamária

[In Stalevo tablets, used in the therapy of patients with Parkinson’s disease, levodopa is combined with decarboxylase inhibitors and COMT inhibitors to provide a more steady plasma concentration of levodopa. Previously several study has shown, that the better pharmacokinetic profile decreases the fluctuation of motor and non-motor symptoms. Better control of symptoms improves quality of life. Ideal blood levels of levodopa however can only be achieved by multiple daily dosing. This may be uncomfortable, may decrease compliance, thereby influence quality of life. To evaluate this a observational follow-up study was undertaken in Hungary in 2007, among patients, who were given Stalevo - independently of this study - because of signs of decrease in the duration of drug effect (wearing off). Patients got Stalevo in three, four or five daily divided dosages, the results were assesed after three months. The study included 223 patients (ITT population), of whom 208 (PP population) responded regarding quality of life on both visits. Statistical analysis of the results showed that treatment significantly decreased symptoms of wearing off (wearing off card with 19 items) and improved quality of life (EQ-5D and VAS quality of life scale) regardless of the frequency of dosing.]

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FINTA P. Ervin, PETER Illes

[Recently great interest has been concentrated on potassium channels inhibited by intracellular adenosine triphosphate (ATP-sensitive potassium channels), which connect the metabolic state of cells with their electrical activity. Channel closure initiates the secretion of insulin from pancreatic ß-cells; a number of hormones altering the level of blood-sugar act via these channels. The channels are present in neurones; they regulate both in the cell bodies and the nerve terminals (e. g. peripheral nerves) the excitability. The reby, in the central nervous system, they influence the neuronal activity both in the satiety center and some catecholaminergic brain nuclei. These channels mediate the effects of endogenous vasodilators in vascular smooth muscle. They have a pathophysiological role in protecting neurones and muscle cells from hypoxic damage. The ATP-sensitive potassium channels are targets of the sulphonylurea antidiabetic agents and of a new class of drugs, the potassium channel agonists. The latter compounds are investigated or used for the treatment of hypertension, angina pectoris, cardiac insufficiency, bronchial asthma, irritable bladder syndrome, chronic occlusive arterial disease and even in impotence. They are relatively well-tolerated drugs. Their adverse effects are related to their basic vasodilator profile and most commonly include headache, dizziness, palpitation or oedema. ]

Clinical Neuroscience

Cases of inborn errors of metabolism diagnosed in children with autism

CAKAR Emel Nafiye, YILMAZBAS Pınar

Autism spectrum disorder is a neurodevelopmental disorder with a heterogeneous presentation, the etiology of which is not clearly elucidated. In recent years, comorbidity has become more evident with the increase in the frequency of autism and diagnostic possibilities of inborn errors of metabolism. One hundred and seventy-nine patients with diagnosis of autism spectrum disorder who presented to the Pediatric Metabolism outpatient clinic between 01/September/2018-29/February/2020 constituted the study population. The personal information, routine and specific metabolic tests of the patients were analyzed retrospectively. Out of the 3261 patients who presented to our outpatient clinic, 179 (5.48%) were diagnosed with autism spectrum disorder and were included in the study. As a result of specific metabolic examinations performed, 6 (3.3%) patients were diagnosed with inborn errors of metabolism. Two of our patients were diagnosed with classical phenylketonuria, two with classical homocystinuria, one with mucopolysaccharidosis type 3D (Sanfilippo syndrome) and one with 3-methylchrotonyl Co-A carboxylase deficiency. Inborn errors of metabolism may rarely present with autism spectrum disorder symptoms. Careful evaluation of the history, physical examination and additional findings in patients diagnosed with autism spectrum disorder will guide the clinician in the decision-making process and chose the appropriate specific metabolic investigation. An underlying inborn errors of metabolism may be a treatable cause of autism.

Clinical Neuroscience

Late simultaneous carcinomatous meningitis, temporal bone infiltrating macro-metastasis and disseminated multi-organ micro-metastases presenting with mono-symptomatic vertigo – a clinico-pathological case reporT

JARABIN András János, KLIVÉNYI Péter, TISZLAVICZ László, MOLNÁR Anna Fiona, GION Katalin, FÖLDESI Imre, KISS Geza Jozsef, ROVÓ László, BELLA Zsolt

Although vertigo is one of the most common complaints, intracranial malignant tumors rarely cause sudden asymmetry between the tone of the vestibular peripheries masquerading as a peripheral-like disorder. Here we report a case of simultaneous temporal bone infiltrating macro-metastasis and disseminated multi-organ micro-metastases presenting as acute unilateral vestibular syndrome, due to the reawakening of a primary gastric signet ring cell carcinoma. Purpose – Our objective was to identify those pathophysiological steps that may explain the complex process of tumor reawakening, dissemination. The possible causes of vestibular asymmetry were also traced. A 56-year-old male patient’s interdisciplinary medical data had been retrospectively analyzed. Original clinical and pathological results have been collected and thoroughly reevaluated, then new histological staining and immunohistochemistry methods have been added to the diagnostic pool. During the autopsy the cerebrum and cerebellum was edematous. The apex of the left petrous bone was infiltrated and destructed by a tumor mass of 2x2 cm in size. Histological reexamination of the original gastric resection specimen slides revealed focal submucosal tumorous infiltration with a vascular invasion. By immunohistochemistry mainly single infiltrating tumor cells were observed with Cytokeratin 7 and Vimentin positivity and partial loss of E-cadherin staining. The subsequent histological examination of necropsy tissue specimens confirmed the disseminated, multi-organ microscopic tumorous invasion. Discussion – It has been recently reported that the expression of Vimentin and the loss of E-cadherin is significantly associated with advanced stage, lymph node metastasis, vascular and neural invasion and undifferentiated type with p<0.05 significance. As our patient was middle aged and had no immune-deficiency, the promoting factor of the reawakening of the primary GC malignant disease after a 9-year-long period of dormancy remained undiscovered. The organ-specific tropism explained by the “seed and soil” theory was unexpected, due to rare occurrence of gastric cancer to metastasize in the meninges given that only a minority of these cells would be capable of crossing the blood brain barrier. Patients with past malignancies and new onset of neurological symptoms should alert the physician to central nervous system involvement, and the appropriate, targeted diagnostic and therapeutic work-up should be established immediately. Targeted staining with specific antibodies is recommended. Recent studies on cell lines indicate that metformin strongly inhibits epithelial-mesenchymal transition of gastric cancer cells. Therefore, further studies need to be performed on cases positive for epithelial-mesenchymal transition.

Clinical Neuroscience

Alexithymia is associated with cognitive impairment in patients with Parkinson’s disease

SENGUL Yildizhan, KOCAK Müge, CORAKCI Zeynep, SENGUL Serdar Hakan, USTUN Ismet

Cognitive dysfunction (CD) is a common non-motor symptom of Parkinson’s disease (PD). Alexithy­mia is a still poorly understood neuropsychiatric feature of PD. Cognitive impairment (especially visuospatial dysfunction and executive dysfunction) and alexithymia share com­mon pathology of neuroanatomical structures. We hypo­thesized that there must be a correlation between CD and alexithymia levels considering this relationship of neuroanatomy. Objective – The aim of this study was to evaluate the association between alexithymia and neurocognitive function in patients with PD. Thirty-five patients with PD were included in this study. The Toronto Alexithymia Scale–20 (TAS-20), Geriatric Depression Inventory (GDI) and a detailed neuropsychological evaluation were performed. Higher TAS-20 scores were negatively correlated with Wechsler Adult Intelligence Scale (WAIS) similarities test score (r =-0.71, p value 0.02), clock drawing test (CDT) scores (r=-0.72, p=0.02) and verbal fluency (VF) (r=-0.77, p<0.01). Difficulty identifying feelings subscale score was negatively correlated with CDT scores (r=-0.74, p=0.02), VF scores (r=-0.66, p=0.04), visual memory immediate recall (r=-0.74, p=0.01). VF scores were also correlated with difficulty describing feelings (DDF) scores (r=-0.66, p=0.04). There was a reverse relationship bet­ween WAIS similarities and DDF scores (r=-0.70, p=0.02), and externally oriented-thinking (r=-0.77,p<0.01). Executive function Z score was correlated with the mean TAS-20 score (r=-62, p=0.03) and DDF subscale score (r=-0.70, p=0.01) Alexithymia was found to be associated with poorer performance on visuospatial and executive function test results. We also found that alexithymia was significantly correlated with depressive symptoms. Presence of alexithymia should therefore warn the clinicians for co-existing CD.