{"id":140,"date":"2025-04-28T17:42:32","date_gmt":"2025-04-28T17:42:32","guid":{"rendered":"https:\/\/honeydew-hyena-350809.hostingersite.com\/?page_id=140"},"modified":"2025-05-08T14:49:21","modified_gmt":"2025-05-08T14:49:21","slug":"about-spg3a","status":"publish","type":"page","link":"https:\/\/kidswithspg3a.com\/tr\/about-spg3a\/","title":{"rendered":"SPG3A Hakk\u0131nda"},"content":{"rendered":"
<\/div>\n\n\n\n

SPAST\u0130K PARAPLEJ\u0130 3A NED\u0130R?<\/h1>\n\n\n\n

SPG3A (ayn\u0131 zamanda ATL1-HSP olarak da bilinir), \u00e7ocuklarda en yayg\u0131n otozomal dominant HSP tipidir. SPG3A i\u00e7in ortalama ba\u015flang\u0131\u00e7 ya\u015f\u0131 4’t\u00fcr ve vakalar\u0131n %80’inden fazlas\u0131 10 ya\u015f\u0131ndan \u00f6nce semptomlar g\u00f6sterir.

SPG3A, Herediter Spastik Parapleji ad\u0131 verilen nadir n\u00f6rolojik durumlar grubunun bir alt tipidir. Herediter spastik paraplejiler genellikle iki tipe ayr\u0131l\u0131r: saf ve karma\u015f\u0131k. Saf tipler yaln\u0131zca alt ekstremiteleri etkilerken, karma\u015f\u0131k tipler \u00fcst ekstremiteler ve oral motor kaslar gibi v\u00fccudun di\u011fer b\u00f6lgelerini de etkiler ve n\u00f6betler ve zihinsel i\u015flevlerde de\u011fi\u015fiklikler gibi ba\u015fka semptomlar g\u00f6sterebilir.

ATL-1 (Atlastin-1) genindeki mutasyonlar SPG3A’ya neden olur. Bu mutasyonlar muhtemelen atlastin-1’in anormal aktivitesine yol a\u00e7ar ve bu da n\u00f6ronlar\u0131n i\u015flevini bozar, \u00f6zellikle bu h\u00fccreler i\u00e7indeki materyallerin da\u011f\u0131l\u0131m\u0131n\u0131 etkiler. Bu i\u015flevsel atlastin-1 protein eksikli\u011fi, aksonlar\u0131n b\u00fcy\u00fcmesini de k\u0131s\u0131tlayabilir. Kortikospinal yollar\u0131n uzun n\u00f6ronlar\u0131nda bu sorunlar h\u00fccre \u00f6l\u00fcm\u00fcne yol a\u00e7abilir. Sonu\u00e7 olarak, n\u00f6ronlar sinir uyar\u0131lar\u0131n\u0131, \u00f6zellikle alt ekstremitelerdeki di\u011fer n\u00f6ronlara ve kaslara iletemez. Bu bozulmu\u015f sinir fonksiyonu, spastik parapleji tip 3A’n\u0131n belirtilerine ve semptomlar\u0131na yol a\u00e7ar.

SPG3A’l\u0131 bireylerin \u00e7o\u011fu (>%95) etkilenmi\u015f bir ebeveyne sahiptir. Ba\u015fka bir deyi\u015fle, gen mutasyonunu en az bir ebeveynden miras al\u0131rlar. Baz\u0131 bireylerde mutasyon “de novo” olarak ortaya \u00e7\u0131kar, yani gen embriyonik geli\u015fim s\u0131ras\u0131nda rastgele mutasyona u\u011frar ve bir ebeveynden miras al\u0131nmaz.<\/p>\n\n\n\n

Kaynak: Ulusal Sa\u011fl\u0131k Enstit\u00fcs\u00fc, Ulusal T\u0131p K\u00fct\u00fcphanesi, MedlinePlus<\/p>\n\n\n\n

\"\"
Kaynak: Herediter Spastik Parapleji: Dr. Arun Meyyazhagan taraf\u0131ndan bir g\u00fcncelleme<\/figcaption><\/figure>","protected":false},"excerpt":{"rendered":"

SPAST\u0130K PARAPLEJ\u0130 3A NED\u0130R? SPG3A (ayn\u0131 zamanda ATL1-HSP olarak da bilinir), \u00e7ocuklarda en yayg\u0131n otozomal dominant HSP tipidir. SPG3A i\u00e7in ortalama ba\u015flang\u0131\u00e7 ya\u015f\u0131 4’t\u00fcr ve vakalar\u0131n %80’inden fazlas\u0131 10 ya\u015f\u0131ndan \u00f6nce semptomlar g\u00f6sterir. SPG3A, Herediter Spastik Parapleji ad\u0131 verilen nadir n\u00f6rolojik durumlar grubunun bir alt tipidir. Herediter spastik paraplejiler genellikle iki tipe ayr\u0131l\u0131r: saf ve […]<\/p>\n","protected":false},"author":1,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"ghostkit_customizer_options":"","ghostkit_custom_css":"","ghostkit_custom_js_head":"","ghostkit_custom_js_foot":"","ghostkit_typography":"","footnotes":""},"class_list":["post-140","page","type-page","status-publish","hentry"],"blocksy_meta":{"background":{"background_type":"image","background_pattern":"type-1","background_image":{"attachment_id":142,"x":0,"y":0,"url":"https:\/\/kidswithspg3a.com\/wp-content\/uploads\/2025\/04\/635bd3421cfdc0509b3cd923_Artboard-min.png"},"gradient":"linear-gradient(135deg,rgba(6,147,227,1) 0%,rgb(155,81,224) 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