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Mutazioni genetiche frequenti in sottogruppi di pazienti parkinsoniani

Nei pazienti con esordio precoce, antenati ebrei o ispanici, con parenti di primo grado ammalati

Ricercatori Americani hanno analizzato il genoma (patrimonio genetico) di 953 pazienti parkinsoniani ad esordio precoce (prima di 51 anni di età) di cui 139 con antenati ebrei e 77 con antenati ispanici, cercando mutazioni di 6 geni notoriamente coinvolti nella malattia. Il 17% dei pazienti presentava almeno una mutazione ovvero quasi 1 su 6. La percentuale era ancora più alta tra coloro che avevano sviluppato la malattia prima dei 31 anni di età (41%). Nei partecipanti con antenati ebrei la percentuale era del 33% rispetto al 14% nei pazienti senza antenati ebrei, mentre nei pazienti con antenati ispanici la percentuale era del 16% rispetto al 6% tra coloro che non avevano antenati ispanici. Nei pazienti con almeno un parente di primo grado ammalato la percentuale era del 24% rispetto a 15% tra coloro che non avevano parenti ammalati.

Arch neurol settembre 2010

parkinsonews
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  • SELECT `c`.`id`,`c`.`asset_id`,`c`.`access`,`c`.`alias`,`c`.`checked_out`,`c`.`checked_out_time`,`c`.`created_time`,`c`.`created_user_id`,`c`.`description`,`c`.`extension`,`c`.`hits`,`c`.`language`,`c`.`level`,`c`.`lft`,`c`.`metadata`,`c`.`metadesc`,`c`.`metakey`,`c`.`modified_time`,`c`.`note`,`c`.`params`,`c`.`parent_id`,`c`.`path`,`c`.`published`,`c`.`rgt`,`c`.`title`,`c`.`modified_user_id`,`c`.`version`, CASE WHEN CHAR_LENGTH(`c`.`alias`) != 0 THEN CONCAT_WS(':', `c`.`id`, `c`.`alias`) ELSE `c`.`id` END as `slug` FROM `jml_categories` AS `s` INNER JOIN `jml_categories` AS `c` ON (`s`.`lft` < `c`.`lft` AND `c`.`lft` < `s`.`rgt` AND `c`.`language` IN (:preparedArray3,:preparedArray4)) OR (`c`.`lft` <= `s`.`lft` AND `s`.`rgt` <= `c`.`rgt`) WHERE (`c`.`extension` = :extension OR `c`.`extension` = 'system') AND `c`.`access` IN (:preparedArray1,:preparedArray2) AND `c`.`published` = 1 AND `s`.`id` = :id ORDER BY `c`.`lft`612μs6.9KBParams/libraries/src/Categories/Categories.php:375Copy
  • SELECT custom_data FROM jml_extensions WHERE element = 'yootheme' AND folder = 'system' LIMIT 1339μs64.88KB/templates/yootheme/packages/platform-joomla/src/Storage.php:30Copy
  • SELECT `m`.`id`,`m`.`title`,`m`.`module`,`m`.`position`,`m`.`content`,`m`.`showtitle`,`m`.`params`,`mm`.`menuid` FROM `jml_modules` AS `m` LEFT JOIN `jml_modules_menu` AS `mm` ON `mm`.`moduleid` = `m`.`id` LEFT JOIN `jml_extensions` AS `e` ON `e`.`element` = `m`.`module` AND `e`.`client_id` = `m`.`client_id` WHERE ( ( (`m`.`published` = 1 AND `e`.`enabled` = 1 AND `m`.`client_id` = :clientId AND `m`.`access` IN (:preparedArray1,:preparedArray2)) AND (`m`.`publish_up` IS NULL OR `m`.`publish_up` <= :publishUp)) AND (`m`.`publish_down` IS NULL OR `m`.`publish_down` >= :publishDown)) AND (`mm`.`menuid` = :itemId OR `mm`.`menuid` <= 0) AND `m`.`language` IN (:preparedArray3,:preparedArray4) ORDER BY `m`.`position`,`m`.`ordering`2.61ms132.25KBParams/libraries/src/Cache/Controller/CallbackController.php:51Copy
  • SELECT `metakey` FROM `jml_content` WHERE `id` = :id188μs1.67KBParams/modules/mod_related_items/src/Helper/RelatedItemsHelper.php:88Copy
  • SELECT `a`.`id` FROM `jml_content` AS `a` WHERE ( ( (`a`.`id` != :id AND `a`.`state` = 1 AND `a`.`access` IN (:preparedArray1,:preparedArray2)) AND (`a`.`metakey` LIKE :preparedArray3 OR `a`.`metakey` LIKE :preparedArray4 OR `a`.`metakey` LIKE :preparedArray5 OR `a`.`metakey` LIKE :preparedArray6 OR `a`.`metakey` LIKE :preparedArray7 OR `a`.`metakey` LIKE :preparedArray8 OR `a`.`metakey` LIKE :preparedArray9)) AND (`a`.`publish_up` IS NULL OR `a`.`publish_up` <= :nowDate1)) AND (`a`.`publish_down` IS NULL OR `a`.`publish_down` >= :nowDate2) AND `a`.`language` IN (:preparedArray10,:preparedArray11) LIMIT 20526μs3.41KBParams/modules/mod_related_items/src/Helper/RelatedItemsHelper.php:152Copy
  • SELECT `a`.`id`,`a`.`title`,`a`.`alias`,`a`.`introtext`,`a`.`fulltext`,`a`.`checked_out`,`a`.`checked_out_time`,`a`.`catid`,`a`.`created`,`a`.`created_by`,`a`.`created_by_alias`,`a`.`modified`,`a`.`modified_by`,CASE WHEN `a`.`publish_up` IS NULL THEN `a`.`created` ELSE `a`.`publish_up` END AS `publish_up`,`a`.`publish_down`,`a`.`images`,`a`.`urls`,`a`.`attribs`,`a`.`metadata`,`a`.`metakey`,`a`.`metadesc`,`a`.`access`,`a`.`hits`,`a`.`featured`,`a`.`language`,LENGTH(`a`.`fulltext`) AS `readmore`,`a`.`ordering`,`fp`.`featured_up`,`fp`.`featured_down`,CASE WHEN `c`.`published` = 2 AND `a`.`state` > 0 THEN 2 WHEN `c`.`published` != 1 THEN 0 ELSE `a`.`state` END AS `state`,`c`.`title` AS `category_title`,`c`.`path` AS `category_route`,`c`.`access` AS `category_access`,`c`.`alias` AS `category_alias`,`c`.`language` AS `category_language`,`c`.`published`,`c`.`published` AS `parents_published`,`c`.`lft`,CASE WHEN `a`.`created_by_alias` > ' ' THEN `a`.`created_by_alias` ELSE `ua`.`name` END AS `author`,`ua`.`email` AS `author_email`,`uam`.`name` AS `modified_by_name`,`parent`.`title` AS `parent_title`,`parent`.`id` AS `parent_id`,`parent`.`path` AS `parent_route`,`parent`.`alias` AS `parent_alias`,`parent`.`language` AS `parent_language`,COALESCE(NULLIF(ROUND(`v`.`rating_sum` / `v`.`rating_count`, 1), 0), 0) AS `rating`,COALESCE(NULLIF(`v`.`rating_count`, 0), 0) AS `rating_count` FROM `jml_content` AS `a` LEFT JOIN `jml_categories` AS `c` ON `c`.`id` = `a`.`catid` LEFT JOIN `jml_users` AS `ua` ON `ua`.`id` = `a`.`created_by` LEFT JOIN `jml_users` AS `uam` ON `uam`.`id` = `a`.`modified_by` LEFT JOIN `jml_categories` AS `parent` ON `parent`.`id` = `c`.`parent_id` LEFT JOIN `jml_content_frontpage` AS `fp` ON `fp`.`content_id` = `a`.`id` LEFT JOIN `jml_content_rating` AS `v` ON `a`.`id` = `v`.`content_id` WHERE `a`.`access` IN (:preparedArray1,:preparedArray2) AND `c`.`access` IN (:preparedArray3,:preparedArray4) AND `c`.`published` = 1 AND `a`.`state` = :condition AND `a`.`id` IN (:preparedArray5,:preparedArray6,:preparedArray7,:preparedArray8,:preparedArray9,:preparedArray10,:preparedArray11,:preparedArray12,:preparedArray13,:preparedArray14,:preparedArray15,:preparedArray16,:preparedArray17,:preparedArray18,:preparedArray19,:preparedArray20,:preparedArray21,:preparedArray22,:preparedArray23,:preparedArray24) AND (`a`.`publish_up` IS NULL OR `a`.`publish_up` <= :publishUp) AND (`a`.`publish_down` IS NULL OR `a`.`publish_down` >= :publishDown) ORDER BY a.ordering ASC2ms332.03KBParams/libraries/src/MVC/Model/BaseDatabaseModel.php:166Copy
  • SELECT `c`.`id`,`c`.`asset_id`,`c`.`access`,`c`.`alias`,`c`.`checked_out`,`c`.`checked_out_time`,`c`.`created_time`,`c`.`created_user_id`,`c`.`description`,`c`.`extension`,`c`.`hits`,`c`.`language`,`c`.`level`,`c`.`lft`,`c`.`metadata`,`c`.`metadesc`,`c`.`metakey`,`c`.`modified_time`,`c`.`note`,`c`.`params`,`c`.`parent_id`,`c`.`path`,`c`.`published`,`c`.`rgt`,`c`.`title`,`c`.`modified_user_id`,`c`.`version`, CASE WHEN CHAR_LENGTH(`c`.`alias`) != 0 THEN CONCAT_WS(':', `c`.`id`, `c`.`alias`) ELSE `c`.`id` END as `slug` FROM `jml_categories` AS `s` INNER JOIN `jml_categories` AS `c` ON (`s`.`lft` < `c`.`lft` AND `c`.`lft` < `s`.`rgt` AND `c`.`language` IN (:preparedArray3,:preparedArray4)) OR (`c`.`lft` <= `s`.`lft` AND `s`.`rgt` <= `c`.`rgt`) WHERE (`c`.`extension` = :extension OR `c`.`extension` = 'system') AND `c`.`access` IN (:preparedArray1,:preparedArray2) AND `c`.`published` = 1 AND `s`.`id` = :id ORDER BY `c`.`lft`412μs6.9KBParams/libraries/src/Categories/Categories.php:375Copy
  • SELECT `c`.`id`,`c`.`asset_id`,`c`.`access`,`c`.`alias`,`c`.`checked_out`,`c`.`checked_out_time`,`c`.`created_time`,`c`.`created_user_id`,`c`.`description`,`c`.`extension`,`c`.`hits`,`c`.`language`,`c`.`level`,`c`.`lft`,`c`.`metadata`,`c`.`metadesc`,`c`.`metakey`,`c`.`modified_time`,`c`.`note`,`c`.`params`,`c`.`parent_id`,`c`.`path`,`c`.`published`,`c`.`rgt`,`c`.`title`,`c`.`modified_user_id`,`c`.`version`, CASE WHEN CHAR_LENGTH(`c`.`alias`) != 0 THEN CONCAT_WS(':', `c`.`id`, `c`.`alias`) ELSE `c`.`id` END as `slug` FROM `jml_categories` AS `s` INNER JOIN `jml_categories` AS `c` ON (`s`.`lft` < `c`.`lft` AND `c`.`lft` < `s`.`rgt` AND `c`.`language` IN (:preparedArray3,:preparedArray4)) OR (`c`.`lft` <= `s`.`lft` AND `s`.`rgt` <= `c`.`rgt`) WHERE (`c`.`extension` = :extension OR `c`.`extension` = 'system') AND `c`.`access` IN (:preparedArray1,:preparedArray2) AND `c`.`published` = 1 AND `s`.`id` = :id ORDER BY `c`.`lft`350μs6.9KBParams/libraries/src/Categories/Categories.php:375Copy
  • SELECT `c`.`id`,`c`.`asset_id`,`c`.`access`,`c`.`alias`,`c`.`checked_out`,`c`.`checked_out_time`,`c`.`created_time`,`c`.`created_user_id`,`c`.`description`,`c`.`extension`,`c`.`hits`,`c`.`language`,`c`.`level`,`c`.`lft`,`c`.`metadata`,`c`.`metadesc`,`c`.`metakey`,`c`.`modified_time`,`c`.`note`,`c`.`params`,`c`.`parent_id`,`c`.`path`,`c`.`published`,`c`.`rgt`,`c`.`title`,`c`.`modified_user_id`,`c`.`version`, CASE WHEN CHAR_LENGTH(`c`.`alias`) != 0 THEN CONCAT_WS(':', `c`.`id`, `c`.`alias`) ELSE `c`.`id` END as `slug` FROM `jml_categories` AS `s` INNER JOIN `jml_categories` AS `c` ON (`s`.`lft` < `c`.`lft` AND `c`.`lft` < `s`.`rgt` AND `c`.`language` IN (:preparedArray3,:preparedArray4)) OR (`c`.`lft` <= `s`.`lft` AND `s`.`rgt` <= `c`.`rgt`) WHERE (`c`.`extension` = :extension OR `c`.`extension` = 'system') AND `c`.`access` IN (:preparedArray1,:preparedArray2) AND `c`.`published` = 1 AND `s`.`id` = :id ORDER BY `c`.`lft`336μs17.9KBParams/libraries/src/Categories/Categories.php:375Copy
  • SELECT `c`.`id`,`c`.`asset_id`,`c`.`access`,`c`.`alias`,`c`.`checked_out`,`c`.`checked_out_time`,`c`.`created_time`,`c`.`created_user_id`,`c`.`description`,`c`.`extension`,`c`.`hits`,`c`.`language`,`c`.`level`,`c`.`lft`,`c`.`metadata`,`c`.`metadesc`,`c`.`metakey`,`c`.`modified_time`,`c`.`note`,`c`.`params`,`c`.`parent_id`,`c`.`path`,`c`.`published`,`c`.`rgt`,`c`.`title`,`c`.`modified_user_id`,`c`.`version`, CASE WHEN CHAR_LENGTH(`c`.`alias`) != 0 THEN CONCAT_WS(':', `c`.`id`, `c`.`alias`) ELSE `c`.`id` END as `slug` FROM `jml_categories` AS `s` INNER JOIN `jml_categories` AS `c` ON (`s`.`lft` < `c`.`lft` AND `c`.`lft` < `s`.`rgt` AND `c`.`language` IN (:preparedArray3,:preparedArray4)) OR (`c`.`lft` <= `s`.`lft` AND `s`.`rgt` <= `c`.`rgt`) WHERE (`c`.`extension` = :extension OR `c`.`extension` = 'system') AND `c`.`access` IN (:preparedArray1,:preparedArray2) AND `c`.`published` = 1 AND `s`.`id` = :id ORDER BY `c`.`lft`326μs6.38KBParams/libraries/src/Categories/Categories.php:375Copy
  • SELECT `c`.`id`,`c`.`asset_id`,`c`.`access`,`c`.`alias`,`c`.`checked_out`,`c`.`checked_out_time`,`c`.`created_time`,`c`.`created_user_id`,`c`.`description`,`c`.`extension`,`c`.`hits`,`c`.`language`,`c`.`level`,`c`.`lft`,`c`.`metadata`,`c`.`metadesc`,`c`.`metakey`,`c`.`modified_time`,`c`.`note`,`c`.`params`,`c`.`parent_id`,`c`.`path`,`c`.`published`,`c`.`rgt`,`c`.`title`,`c`.`modified_user_id`,`c`.`version`, CASE WHEN CHAR_LENGTH(`c`.`alias`) != 0 THEN CONCAT_WS(':', `c`.`id`, `c`.`alias`) ELSE `c`.`id` END as `slug` FROM `jml_categories` AS `s` INNER JOIN `jml_categories` AS `c` ON (`s`.`lft` < `c`.`lft` AND `c`.`lft` < `s`.`rgt` AND `c`.`language` IN (:preparedArray3,:preparedArray4)) OR (`c`.`lft` <= `s`.`lft` AND `s`.`rgt` <= `c`.`rgt`) WHERE (`c`.`extension` = :extension OR `c`.`extension` = 'system') AND `c`.`access` IN (:preparedArray1,:preparedArray2) AND `c`.`published` = 1 AND `s`.`id` = :id ORDER BY `c`.`lft`325μs6.9KBParams/libraries/src/Categories/Categories.php:375Copy
  • SELECT `params` FROM `jml_comprofiler_plugin` WHERE `id` = 1200μs896BCopy
  • SELECT `id` FROM `jml_rstbox` WHERE `published` = 1 AND `testmode` = 0201μs928B/administrator/components/com_rstbox/EngageBox/Boxes.php:45Copy
  • SELECT * FROM `jml_rstbox` WHERE `id` = 3136μs2.23KB/administrator/components/com_rstbox/EngageBox/Box.php:238Copy
  • SELECT COUNT(id) FROM `jml_rstbox_logs` WHERE `event` = 1 AND `box` = 3 AND `visitorid` = '67c1794b8d8e9e04' AND MONTH(date) = 03 AND YEAR(date) = 2025204μs896B/administrator/components/com_rstbox/EngageBox/Assignments.php:201Copy
  • SELECT * FROM `jml_rstbox` WHERE `id` = 5127μs2.23KB/administrator/components/com_rstbox/EngageBox/Box.php:238Copy
  • SELECT COUNT(id) FROM `jml_rstbox_logs` WHERE `event` = 1 AND `box` = 5 AND `visitorid` = '67c1794b8d8e9e04'107μs896B/administrator/components/com_rstbox/EngageBox/Assignments.php:201Copy
  • SELECT `language`,`id` FROM `jml_menu` WHERE `home` = '1' AND `published` = 1 AND `client_id` = 0437μs976B/libraries/src/Language/Multilanguage.php:123Copy
  • SELECT `alias` FROM `jml_content` WHERE `id` = :id126μs1.67KBParams/components/com_content/src/Service/Router.php:168Copy
  • SELECT `alias` FROM `jml_content` WHERE `id` = :id93μs1.67KBParams/components/com_content/src/Service/Router.php:168Copy
  • SELECT `c2`.`language`,CONCAT_WS(':', `c2`.`id`, `c2`.`alias`) AS `id`,CONCAT_WS(':', `ca`.`id`, `ca`.`alias`) AS `catid` FROM `jml_content` AS `c` INNER JOIN `jml_associations` AS `a` ON `a`.`id` = `c`.`id` AND `a`.`context` = :context INNER JOIN `jml_associations` AS `a2` ON `a`.`key` = `a2`.`key` INNER JOIN `jml_content` AS `c2` ON `a2`.`id` = `c2`.`id` INNER JOIN `jml_categories` AS `ca` ON `c2`.`catid` = `ca`.`id` AND `ca`.`extension` = :extension2 WHERE `c`.`id` = :id AND c2.access IN (1,5) AND c2.language != 'it-IT' AND (c2.publish_up IS NULL OR c2.publish_up <= '2025-03-25 08:03:38') AND (c2.publish_down IS NULL OR c2.publish_down >= '2025-03-25 08:03:38') AND c2.state = 1283μs1.81KBParams/libraries/src/Language/Associations.php:145Copy
  • SELECT DISTINCT a.id, a.title, a.name, a.checked_out, a.checked_out_time, a.note, a.state, a.access, a.created_time, a.created_user_id, a.ordering, a.language, a.fieldparams, a.params, a.type, a.default_value, a.context, a.group_id, a.label, a.description, a.required, a.only_use_in_subform,l.title AS language_title, l.image AS language_image,uc.name AS editor,ag.title AS access_level,ua.name AS author_name,g.title AS group_title, g.access as group_access, g.state AS group_state, g.note as group_note FROM jml_fields AS a LEFT JOIN `jml_languages` AS l ON l.lang_code = a.language LEFT JOIN jml_users AS uc ON uc.id=a.checked_out LEFT JOIN jml_viewlevels AS ag ON ag.id = a.access LEFT JOIN jml_users AS ua ON ua.id = a.created_user_id LEFT JOIN jml_fields_groups AS g ON g.id = a.group_id WHERE ( (`a`.`context` = :context AND `a`.`access` IN (:preparedArray1,:preparedArray2)) AND (`a`.`group_id` = 0 OR `g`.`access` IN (:preparedArray3,:preparedArray4)) AND `a`.`state` = :state) AND (`a`.`group_id` = 0 OR `g`.`state` = :gstate) AND `a`.`only_use_in_subform` = :only_use_in_subform ORDER BY a.ordering ASC750μs5.63KBParams/libraries/src/MVC/Model/BaseDatabaseModel.php:166Copy
  • SELECT SUM(CASE WHEN `a`.`next_execution` <= :now THEN 1 ELSE 0 END) AS due_count,SUM(CASE WHEN `a`.`locked` IS NULL THEN 0 ELSE 1 END) AS locked_count FROM `jml_scheduler_tasks` AS `a` WHERE `a`.`state` = 1237μs1.75KBParams/administrator/components/com_scheduler/src/Model/TasksModel.php:517Copy
  • SHOW TABLES798μs8.83KB/libraries/vendor/joomla/database/src/Mysqli/MysqliDriver.php:678Copy
  • SELECT `session_id` FROM `jml_session` WHERE `session_id` = ?163μs1.67KBParams/libraries/vendor/joomla/session/src/Handler/DatabaseHandler.php:291Copy
  • UPDATE `jml_session` SET `data` = ? , `time` = ? WHERE `session_id` = ?8.99ms936BParams/libraries/vendor/joomla/session/src/Handler/DatabaseHandler.php:318Copy