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ÄíÇÁ½º º´Àº ¶óÀÌÆ÷Ǫ½Å (lipofuscin)À̶ó´Â ¹°ÁúÀÌ Ã¼³»¿¡ ÃàÀûµÇ´Â ÁúȯÀÔ´Ï´Ù. ÄíÇÁ½º º´Àº neuronal ceroid-lipofuscinosis (NCL) ¶ó°í ºÒ¸®´Â Áúȯ Áß ¼ºÀο¡¼ ³ªÅ¸³ª´Â ÇüÅ·Π¸Á¸·Ä§¹üÀÌ ¾ø´Â °ÍÀÌ Æ¯Â¡ÀÔ´Ï´Ù.
ÀÌ ÁúȯÀº Å©°Ô µÎ °¡Áö ÇüÅ·ΠºÐ·ùµÇ´Âµ¥, ÁøÇ༺ ±Ù°£´ë¼º ¹ßÀÛ (progressive myoclonic epilepsy)À» Ư¡À¸·Î ÇÏ´Â type AÇü°ú Ä¡¸Å¿Í ¿îµ¿Àå¾Ö (dementia and motor disturbance) type B·Î ±¸º°Çϱ⵵ ÇÕ´Ï´Ù.
ÇöÀç±îÁö º¸°íµÇ°í ÀÖ´Â Kufs º´Àº »ê¹ßÀûÀ¸·Î ¹ßº´Çϱ⵵ ÇÏ°í, »ó¿°»öü ¿ì¼º°ú ¿¼º À¯ÀüÀ» º¸À̱⵵ ÇÕ´Ï´Ù. ÀÌ ÁúȯÀÇ Á¤È®ÇÑ »ýÈÇÐÀû ÀÌ»ó ¼Ò°ßÀº ¹àÇôÁöÁö ¾Ê¾Ò½À´Ï´Ù.
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Kufs º´Àº 30¼¼¸¦ ÀüÈÄ¿¡ Áõ»óÀÌ ¹ß»ýÇÕ´Ï´Ù. ÀÌ Áúȯ¿¡ ƯÀÌÇÑ Áõ»óÀº ¾øÀ¸¸ç, ¸Å¿ì ´Ù¾çÇÑ Áõ»óÀÌ ³ªÅ¸³ª´Âµ¥, ¼º°Ýº¯È¿Í Ä¡¸Å, ±Ù°£´ë¼º ¹ßÀÛ, pyramidal and extrapyramidal ÁõÈÄ, ¼Ò³ú ½ÇÁ¶, °æÁ÷, °Á÷, ¹«Á¤À§¿îµ¿ (athetosis) µîÀÌ ³ªÅ¸³ª¸ç, °Á÷¼º »çÁö¸¶ºñµµ º¸°íµÇ°í ÀÖ½À´Ï´Ù.
ÀϺΠÇÐÀÚ´Â ÀÌ ÁúȯÀ» µÎ °¡Áö À¯ÇüÀ¸·Î ºÐ·ùÇϴµ¥, ±× Çϳª°¡ ÁøÇ༺ ±Ù°£´ë¼º ¹ßÀÛÀÌ°í, ´Ù¸¥ Çϳª°¡ Ä¡¸Å¿Í ¿îµ¿Àå¾ÖÀÔ´Ï´Ù. ÀÌ Áß, ÁøÇ༺ ±Ù°£´ë¼º ¹ßÀÛ À» ³ªÅ¸³»´Â ¾ÆÇüÀº ±¤°¨¼ö¼º (photosensitivity)°¡ µÎµå·¯Áö°í Ä¡¸Å¿Í Á¶È¿îµ¿ºÒ´É(ataxia)µîÀÇ ÀÓ»ó¾ç»óÀ» º¸ÀÏ ¼ö ÀÖÀ¸¸ç, Ä¡¸Å¿Í ¿îµ¿Àå¾Ö ¾ÆÇüÀº ÀÌ»ó¿îµ¿Áõ (dyskinesia) ¹× Ãßü¿Ü·ÎÁõ»óµî°ú ¿¬°üµÈ Áõ»óÀ» º¸ÀÏ ¼ö ÀÖ½À´Ï´Ù. ÇÏÁö¸¸, ÀÌ µÎ °¡Áö ¾ÆÇü °£ÀÇ °ãÄ¡´Â Áõ»óÀÌ »ó´çÈ÷ ¸¹½À´Ï´Ù.
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ÄíÇÁ½º º´Àº »ó¿°»öü ¿ì¼º ¶Ç´Â ¿¼ºÀ¸·Î À¯ÀüµÇÁö¸¸ Áúº´À» ÀÏÀ¸Å°´Â À¯ÀüÀÚÀÇ À§Ä¡´Â ¾ÆÁ÷ ¹àÇôÁöÁö ¾Ê¾Ò½À´Ï´Ù.
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½Å°æÇÐÀû °Ë»ç¿Í Á¶Á÷°Ë»ç¸¦ ÅëÇØ ÀÌ·ç¾îÁý´Ï´Ù. ³ú¿Í ÇǺÎÀÇ Á¶Á÷°Ë»ç¿¡¼ ceroid¿Í lipofuscin¿¡ µ¿½Ã¿¡ Á¶Á÷ÈÇÐÀû ¾ç¼º¹ÝÀÀ¸¦ º¸À̸ç autofluorescent¸¦ º¸ÀÌ´Â ¼¼Æ÷ÁúºÀÀÔü (cytoplasmic inclusion body) À» °üÂûÇÒ ¼ö ÀÖ½À´Ï´Ù. ³úÀÚ±â°ø¸í¿µ»ó¿¡¼ ¹éÁúÀÇ ¹Ì¸¸¼º °í°µµ ½ÅÈ£ (diffuse hyperintensity)°¡ T2 °Á¶ ¿µ»ó¿¡¼ °üÂûµÇ±âµµ ÇÕ´Ï´Ù.
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ÁøÇ༺ ±Ù°£´ë¼º °£Áú, Ä¡¸Å, ¿îµ¿ÀÌ»óÁõÀ» º¸ÀÌ¸é¼ CLN4 geneÀÇ µ¹¿¬º¯ÀÌ°¡ ¹ß°ßµÇ´Â °æ¿ì.
*Áø´Ü¹æ¹ý : À¯ÀüÇÐ °Ë»ç, ÀÓ»óÁø´Ü
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ÁøÇ༺ ±Ù°£´ë¼º ¹ßÀÛÀ» Ç×°æ·ÃÁ¦·Î Ä¡·áÇÕ´Ï´Ù. ´Ù¸¥ ÀÓ»óÁõ»óµéµµ ȯÀÚ¿¡ ÀûÇÕÇÑ Áõ»óÄ¡·á¸¦ ÇÕ´Ï´Ù. ±Ùº» Ä¡·á´Â ¾ø½À´Ï´Ù.
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Ropper AH, Brown RH. Adams and Victors Principles of Neurology. 8th eds. McGraw Hill. 2005.
Martin JJ. Adult type neuronal ceroid lipofuscinosis. Dev Neurosci 1991;13:331-338.
Sadzot B, Reznik M, Arrese-Estrada JE, Franck G. Familial Kufs disease presenting as a progressive myoclonic epilepsy. J Neurol 2000;247(6):447-454.
Burneo JG, Arnold T, Palmer CA, Kuzniecky RI, Oh SJ, Faught E. Adult-onset neuronal ceroid lipofuscinosis (Kufs disease) with autosomal dominant inheritance in Alabama. Epilepsia. 2003;44(6):841-846
Early onset dementia with prolonged occipital seizures, neurology2008;71:1709-1712
http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=204300
www.orpha.net
Arsob T, Smith KR, Damiano J, et al. Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CNL6. Am J Hum Genet 2011;88:566-573
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