Tárolási betegségek, neuronális ceroid lipofuszcinózis

Szikszai, Anna and Balogh, Éva (2023) Tárolási betegségek, neuronális ceroid lipofuszcinózis. MAGYAR ÁLLATORVOSOK LAPJA, 145 (5). pp. 259-274. ISSN 0025-004X

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Abstract

Tanulmányukban a szerzők a neuronális ceroid lipofuszcinózis (NCL) klinikai képét vizsgálták nyolc beteg kapcsán. A tárolási betegségek emberekben és állatokban örökletes módon kialakuló kórformák, amelyek gyakran idegrendszeri tünetekkel járnak. A rendellenesség alapja egy specifikus enzim hiánya, vagy nem megfelelő működése, aminek következtében a kórformára jellemző anyagcseretermékek halmozódnak fel a sejten belül. A staffordshire terrierekben jelentkező neuronális ceroid lipofuszcinózis viszonylag gyakori képviselője ennek a betegség csoportnak. Míg a tárolási betegségek nagy része már gyakran fiatal korban, akár rögtön születés után megnyilvánul, addig az NCL-nél az első nyilvánvaló tünetek csak felnőttkorban jelennek meg lassan progrediáló mozgásinkoordinációs zavarok képében. | Background: Storage diseases are inherited neurodegenerative diseases which affect humans and several animal species including dogs and cats. These disorders are caused by deficient function or decreased activity of lysosomal en- zymes and even defective transport of these enzymes or their substrates. These diseases often manifest in different neurological signs in young pure breed animals and in most cases result in their premature death. Some forms of storage diseases also exist with late-onset clinical signs. Neuronal ceroid lipofuscinosis (NCL) is one of the most frequently seen lysosomal storage disorders that manifests in adulthood with progressive movement derangement. Objectives: Examine the clinical appearance of neuronal ceroid lipofuscinosis in American Staffordshire Terriers. Materials and Methods: Eight patients with clinical symptoms that were all homozygous for NCL allele, justified by genetic test were selected to the study. Symptoms were evaluated by clinical examination and/or detailed information from the owners were collected. results and Discussion: The onset of signs in dogs examined was between 2 and 6 years of age. First signs were transient head tilt and uncoordinated movements, which occurred during walk and trot and worsened with excitement. Later dysmetria, truncal ataxia, loss of balance, falling over to their sides were seen. Progressive worsening of the movement ability of these dogs and ongoing loss of their ambulation capability usually lead to euthanasia well before their life expectation. Supportive and supplementary treatments by the owners did not result in improvement, maybe slowed the progression of the disease. Specific newer therapies from human medicine (enzyme replacement therapy, substrate deprivation therapy, bone marrow transplantation, stem cell therapy, gene therapy) presumably will not get into the veterinary practice because of their high costs. Currently the only solution of this disease would be the elimination of the mutant gene which could be achieved by stricter breeding practices.

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