Clinical Neuroscience

[PROGRESSIVE MULTIFOCAL LEUKOENCEPHALOPATHY]

PÁL Endre1, ASCHERMANN Zsuzsanna1, GÖMÖRI Éva2, KOVÁCS Gábor Géza3, SIMON Gábor4, MARÓDI László5, KOMOLY Sámuel1, ILLÉS Zsolt1

MAY 20, 2007

Clinical Neuroscience - 2007;60(05-06)

[Progressive multifocal leukoencephalopathy is a rare disease caused by the reactivation of an opportunistic agent, JC virus almost in every cases in immunodeficient conditions. The disease is characterized by multifocal demyelinating lesions of the central nervous system and causes death within a few months. The authors report two patients: a 67 year-old male treated because of chronic lymphoid leukemia, and a 19 year-old male having a hereditary immunodeficiency, X-linked hyper IgM syndrome. In both cases continuously progressive right, later both hemispheric signs were detected. Cerebrospinal fluid was not helpful. Brain MRI showed bilateral large, white matter lesion. The progression was not influenced by the treatment, finally both patient died ten and six weeks after the appearance of first complaints. The diagnosis was confirmed by brain biopsy and autopsy in both cases. Our cases demonstrate that progressive multifocal leukoencephalopathy can develop in various immunodeficiencies.]

AFFILIATIONS

  1. Pécsi Tudományegyetem, Orvos- és Egészségtudományi Centrum, Neurológiai Klinika, Pécs
  2. Pécsi Tudományegyetem, Patológiai Intézet, Pécs
  3. Országos Pszichiátriai és Neurológiai Intézet, Neuropatológiai Osztály, Budapest
  4. Szent György Megyei Kórház, Gyermekgyógyászati Osztály, Székesfehérvár
  5. Debreceni Tudományegyetem, Infektológiai és Gyermekimmunológiai Intézet, Debrecen

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[About 90% of neurodegenerative diseases with parkinsonism are associated with sleep disorders including daytime sleepiness, sleep-related breathing disorders and parasomnias. It is hard to define what ratio of insomnia and daytime hypersomnia is caused by the antiparkinsonian tratment, by the somatic and mentalemotional symptoms of the neurodegenerativ disease and by the neurodegenerative brain process itself. Recent research suggests that the latter group is more important than expected. In Parkinson syndromes the structures included in sleep regulation - mainly within the brainstem - are also affected resulting in specific sleep disorders being the primary biological symptoms of these diseases. The recently described parasomnia - REM sleep behavior disorder - has a specific significance in this respect: it may prevent by several years a high ratio of the parkinsonian disorders - especially synucleinopathies - offering the possibility of prevention by identifying the affected individuals. There seems to exist a similar although less clarified association between daytime sleepiness and Parkinson disease. Analysing the behavior of the orexin system in neurodegenerative diseases may help to learn more about this, recently described neurohumoral system and may clear the association of narcolepsy with neurodegeneration. By understanding the associations of parkinsonian disorders and sleep disorders new therapeutical strategies may be invented and may offer new aspects to understand the mechanism of them.]

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[NOVEL CELL-BIOLOGICAL IDEAS DEDUCIBLE FROM MORPHOLOGICAL OBSERVATIONS ON “DARK” NEURONS REVISITED]

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[The origin, nature and fate of ”dark“ (dramatically shrunken and hyperbasophilic) neurons are century-old problems in both human and experimental neuropathology. Until a few years ago, hardly any cell-biological conclusion had been drawn from their histological investigation. On the basis of light and electron microscopic findings in animal experiments performed during the past few years, my research team has put forward novel ideas concerning 1. the nature of ”dark“ neurons (malfunction of an energystoring gel-structure that is ubiquitously present in all intracellular spaces between the ultrastructural elements), 2. the mechanism of their formation (non-programmed initiation of a whole-cell phase-transition in this gel-structure), 3. their capability of recovery (programmed for some physiological purpose), 4. their death mode (neither necrotic nor apoptotic), and 5. their relationship with the apoptotic cell death (the gel structure in question is programmed for the morphological execution of ontogenetic apoptosis). Based on morphological observations, this paper revisits these ideas in order to bring them to the attention of researchers who are in a position to investigate their validity by means of experimental paradigms other than those used here.]

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[The congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome (OMIM 604168) is a recently described autosomal recessive developmental disorder. It is almost completely restricted to an endogamous group of the European Vlax Roma population, called the Rudari. The CCFDN syndrome is a complex phenotype involving multiple systems, characterized by facial dysmorphism, congenital cataracts, microcorneae, delayed early motor and intellectual development, hypogonadotrop hypogonadism, hypomyelination of the peripheral nervous system, and serious complications related to general anaesthesia. This disorder is caused by a homozygous mutation of the carboxy-terminal domain phosphatase 1 (CTDP1) gene, localized to the 18q23 region. Authors present one genetically identified case in a large Roma family. The case documents that the CCFDN mutation is present also in the Hungarian Roma population. Underlie of antropomorphological data the authors presume that the CCFDN mutation reached Hungary as a result of emigration of Vlax Gypsies in the 18th century. The paper calls attention to the fact that molecular genetic diagnostics can replace invasive methods and makes possible the identification of heterozygotes without clinical symptoms. The introduction of the genetic screening enables us to perform genetic counselling and prevention in this high-risk population.]

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