浅谈青少年亨廷顿病

2021-10-22 MedSci原创 MedSci原创

亨廷顿病是一种常染色体显性遗传性脑部疾病,通常在成年后表现出来。所有在21岁之前出现症状的患者,无论他们现在的年龄如何,都被称为青少年型亨廷顿病(JHD)。

亨廷顿病是一种常染色体显性遗传性脑部疾病,通常在成年后表现出来。所有在21岁之前出现症状的患者,无论他们现在的年龄如何,都被称为青少年型亨廷顿病(JHD),在所有HD病例中有4%到10%的病例出现这种症状。根据临床症状,进一步区分为儿童期(<10岁)和青少年期(10-18岁)JHD;JHD的原因是Huntington基因中病理性扩增的CAG重复序列。发病年龄与CAG重复长度呈负相关。 为什么要关注青少年亨廷顿病? 青少年亨廷顿病有不典型临床表现,疾病进展更快、生存期更短。此外,JHD大脑的形态学变化通常比AHD大脑更严重。与成年期发病相比,青少年期发病的患者有明显的症状和体征,涉及的脑结构病理更为严重。这些表型和病理差异提出了异常病理机制的假设。 病程:儿童JHD发病后的中位病程为9年,而青少年和成人HD发病后的中位病程为18年。 临床表现:30%–83%的JHD患者在运动开始前出现认知障碍。同样,在大约三分之一的AHD病例中,早期认知障碍通常与精神运动速度和执行功能(如注意力、计划和思维灵活性)的恶化有关。有研究证实了JHD存在发育延迟,并表明这些延迟尤其见于儿童疾病发作的患者

版权声明:
本网站所有内容来源注明为“梅斯医学”或“MedSci原创”的文字、图片和音视频资料,版权均属于梅斯医学所有。非经授权,任何媒体、网站或个人不得转载,授权转载时须注明来源为“梅斯医学”。其它来源的文章系转载文章,或“梅斯号”自媒体发布的文章,仅系出于传递更多信息之目的,本站仅负责审核内容合规,其内容不代表本站立场,本站不负责内容的准确性和版权。如果存在侵权、或不希望被转载的媒体或个人可与我们联系,我们将立即进行删除处理。
在此留言
评论区 (5)
#插入话题
  1. [GetPortalCommentsPageByObjectIdResponse(id=1067293, encodeId=8c30106e293e3, content=感谢分享, beContent=null, objectType=article, channel=null, level=null, likeNumber=46, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=980f2446813, createdName=123e7e07m31(暂无昵称), createdTime=Fri Nov 05 14:59:21 CST 2021, time=2021-11-05, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1365123, encodeId=938013651234d, content=<a href='/topic/show?id=c83a2455270' target=_blank style='color:#2F92EE;'>#亨廷顿病#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=39, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=24552, encryptionId=c83a2455270, topicName=亨廷顿病)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=0a8e213, createdName=hongbochen, createdTime=Sun Oct 24 07:01:09 CST 2021, time=2021-10-24, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1622798, encodeId=41ba1622e9847, content=<a href='/topic/show?id=4a6e2454879' target=_blank style='color:#2F92EE;'>#亨廷顿#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=45, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=24548, encryptionId=4a6e2454879, topicName=亨廷顿)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=395f25, createdName=爆笑小医, createdTime=Sun Oct 24 07:01:09 CST 2021, time=2021-10-24, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1063110, encodeId=fb46106311010, content=睡眠障碍可能是导致这种风险的一个未确, beContent=null, objectType=article, channel=null, level=null, likeNumber=63, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://thirdwx.qlogo.cn/mmopen/vi_32/Q0j4TwGTfTIrrxxDxnLic8t6EAs38Qfwo6H2h6JMleIgb9OSYf6LMnVDkQEqUXWoSDWboibjhOBI9SJDTXweqQIA/132, createdBy=50aa5321359, createdName=查查佳佳, createdTime=Sat Oct 23 08:52:55 CST 2021, time=2021-10-23, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1063056, encodeId=74bf10630565c, content=学习了,谢谢分享, beContent=null, objectType=article, channel=null, level=null, likeNumber=44, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=7c592194322, createdName=1209e435m98(暂无昵称), createdTime=Fri Oct 22 23:56:26 CST 2021, time=2021-10-22, status=1, ipAttribution=)]
    2021-11-05 123e7e07m31(暂无昵称)

    感谢分享

    0

  2. [GetPortalCommentsPageByObjectIdResponse(id=1067293, encodeId=8c30106e293e3, content=感谢分享, beContent=null, objectType=article, channel=null, level=null, likeNumber=46, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=980f2446813, createdName=123e7e07m31(暂无昵称), createdTime=Fri Nov 05 14:59:21 CST 2021, time=2021-11-05, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1365123, encodeId=938013651234d, content=<a href='/topic/show?id=c83a2455270' target=_blank style='color:#2F92EE;'>#亨廷顿病#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=39, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=24552, encryptionId=c83a2455270, topicName=亨廷顿病)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=0a8e213, createdName=hongbochen, createdTime=Sun Oct 24 07:01:09 CST 2021, time=2021-10-24, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1622798, encodeId=41ba1622e9847, content=<a href='/topic/show?id=4a6e2454879' target=_blank style='color:#2F92EE;'>#亨廷顿#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=45, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=24548, encryptionId=4a6e2454879, topicName=亨廷顿)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=395f25, createdName=爆笑小医, createdTime=Sun Oct 24 07:01:09 CST 2021, time=2021-10-24, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1063110, encodeId=fb46106311010, content=睡眠障碍可能是导致这种风险的一个未确, beContent=null, objectType=article, channel=null, level=null, likeNumber=63, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://thirdwx.qlogo.cn/mmopen/vi_32/Q0j4TwGTfTIrrxxDxnLic8t6EAs38Qfwo6H2h6JMleIgb9OSYf6LMnVDkQEqUXWoSDWboibjhOBI9SJDTXweqQIA/132, createdBy=50aa5321359, createdName=查查佳佳, createdTime=Sat Oct 23 08:52:55 CST 2021, time=2021-10-23, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1063056, encodeId=74bf10630565c, content=学习了,谢谢分享, beContent=null, objectType=article, channel=null, level=null, likeNumber=44, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=7c592194322, createdName=1209e435m98(暂无昵称), createdTime=Fri Oct 22 23:56:26 CST 2021, time=2021-10-22, status=1, ipAttribution=)]
  3. [GetPortalCommentsPageByObjectIdResponse(id=1067293, encodeId=8c30106e293e3, content=感谢分享, beContent=null, objectType=article, channel=null, level=null, likeNumber=46, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=980f2446813, createdName=123e7e07m31(暂无昵称), createdTime=Fri Nov 05 14:59:21 CST 2021, time=2021-11-05, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1365123, encodeId=938013651234d, content=<a href='/topic/show?id=c83a2455270' target=_blank style='color:#2F92EE;'>#亨廷顿病#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=39, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=24552, encryptionId=c83a2455270, topicName=亨廷顿病)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=0a8e213, createdName=hongbochen, createdTime=Sun Oct 24 07:01:09 CST 2021, time=2021-10-24, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1622798, encodeId=41ba1622e9847, content=<a href='/topic/show?id=4a6e2454879' target=_blank style='color:#2F92EE;'>#亨廷顿#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=45, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=24548, encryptionId=4a6e2454879, topicName=亨廷顿)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=395f25, createdName=爆笑小医, createdTime=Sun Oct 24 07:01:09 CST 2021, time=2021-10-24, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1063110, encodeId=fb46106311010, content=睡眠障碍可能是导致这种风险的一个未确, beContent=null, objectType=article, channel=null, level=null, likeNumber=63, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://thirdwx.qlogo.cn/mmopen/vi_32/Q0j4TwGTfTIrrxxDxnLic8t6EAs38Qfwo6H2h6JMleIgb9OSYf6LMnVDkQEqUXWoSDWboibjhOBI9SJDTXweqQIA/132, createdBy=50aa5321359, createdName=查查佳佳, createdTime=Sat Oct 23 08:52:55 CST 2021, time=2021-10-23, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1063056, encodeId=74bf10630565c, content=学习了,谢谢分享, beContent=null, objectType=article, channel=null, level=null, likeNumber=44, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=7c592194322, createdName=1209e435m98(暂无昵称), createdTime=Fri Oct 22 23:56:26 CST 2021, time=2021-10-22, status=1, ipAttribution=)]
  4. [GetPortalCommentsPageByObjectIdResponse(id=1067293, encodeId=8c30106e293e3, content=感谢分享, beContent=null, objectType=article, channel=null, level=null, likeNumber=46, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=980f2446813, createdName=123e7e07m31(暂无昵称), createdTime=Fri Nov 05 14:59:21 CST 2021, time=2021-11-05, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1365123, encodeId=938013651234d, content=<a href='/topic/show?id=c83a2455270' target=_blank style='color:#2F92EE;'>#亨廷顿病#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=39, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=24552, encryptionId=c83a2455270, topicName=亨廷顿病)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=0a8e213, createdName=hongbochen, createdTime=Sun Oct 24 07:01:09 CST 2021, time=2021-10-24, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1622798, encodeId=41ba1622e9847, content=<a href='/topic/show?id=4a6e2454879' target=_blank style='color:#2F92EE;'>#亨廷顿#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=45, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=24548, encryptionId=4a6e2454879, topicName=亨廷顿)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=395f25, createdName=爆笑小医, createdTime=Sun Oct 24 07:01:09 CST 2021, time=2021-10-24, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1063110, encodeId=fb46106311010, content=睡眠障碍可能是导致这种风险的一个未确, beContent=null, objectType=article, channel=null, level=null, likeNumber=63, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://thirdwx.qlogo.cn/mmopen/vi_32/Q0j4TwGTfTIrrxxDxnLic8t6EAs38Qfwo6H2h6JMleIgb9OSYf6LMnVDkQEqUXWoSDWboibjhOBI9SJDTXweqQIA/132, createdBy=50aa5321359, createdName=查查佳佳, createdTime=Sat Oct 23 08:52:55 CST 2021, time=2021-10-23, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1063056, encodeId=74bf10630565c, content=学习了,谢谢分享, beContent=null, objectType=article, channel=null, level=null, likeNumber=44, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=7c592194322, createdName=1209e435m98(暂无昵称), createdTime=Fri Oct 22 23:56:26 CST 2021, time=2021-10-22, status=1, ipAttribution=)]
    2021-10-23 查查佳佳

    睡眠障碍可能是导致这种风险的一个未确

    0

  5. [GetPortalCommentsPageByObjectIdResponse(id=1067293, encodeId=8c30106e293e3, content=感谢分享, beContent=null, objectType=article, channel=null, level=null, likeNumber=46, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=980f2446813, createdName=123e7e07m31(暂无昵称), createdTime=Fri Nov 05 14:59:21 CST 2021, time=2021-11-05, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1365123, encodeId=938013651234d, content=<a href='/topic/show?id=c83a2455270' target=_blank style='color:#2F92EE;'>#亨廷顿病#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=39, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=24552, encryptionId=c83a2455270, topicName=亨廷顿病)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=0a8e213, createdName=hongbochen, createdTime=Sun Oct 24 07:01:09 CST 2021, time=2021-10-24, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1622798, encodeId=41ba1622e9847, content=<a href='/topic/show?id=4a6e2454879' target=_blank style='color:#2F92EE;'>#亨廷顿#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=45, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=24548, encryptionId=4a6e2454879, topicName=亨廷顿)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=395f25, createdName=爆笑小医, createdTime=Sun Oct 24 07:01:09 CST 2021, time=2021-10-24, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1063110, encodeId=fb46106311010, content=睡眠障碍可能是导致这种风险的一个未确, beContent=null, objectType=article, channel=null, level=null, likeNumber=63, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://thirdwx.qlogo.cn/mmopen/vi_32/Q0j4TwGTfTIrrxxDxnLic8t6EAs38Qfwo6H2h6JMleIgb9OSYf6LMnVDkQEqUXWoSDWboibjhOBI9SJDTXweqQIA/132, createdBy=50aa5321359, createdName=查查佳佳, createdTime=Sat Oct 23 08:52:55 CST 2021, time=2021-10-23, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1063056, encodeId=74bf10630565c, content=学习了,谢谢分享, beContent=null, objectType=article, channel=null, level=null, likeNumber=44, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=7c592194322, createdName=1209e435m98(暂无昵称), createdTime=Fri Oct 22 23:56:26 CST 2021, time=2021-10-22, status=1, ipAttribution=)]
    2021-10-22 1209e435m98(暂无昵称)

    学习了,谢谢分享

    0

相关资讯

JAMA Netw Open:超110万人队列研究显示,剖宫产可增加儿童神经发育障碍发病风险,可能与家族遗传有关!

神经发育障碍是一组儿童期疾病,通常持续到成年期。有研究表明,神经发育障碍具有高度遗传性,然而截止到目前为止具体的病因仍不明确。剖宫产分娩(CD)已被认为是导致儿童神经发育和精神疾病的危险因素。先前荟萃

JAMA Psychiatry:大麻应该合法化吗?看看青春期吸食大麻与神经发育的关联

大麻使用在多大程度上与磁共振成像测量的大脑皮质厚度的发育有关?

CDSR:维生素A与患慢性肺病的风险及长期神经发育状态的关系

维生素A是肺正常发育和呼吸道上皮细胞完整性所必需的。早产儿出生时维生素A水平低,这可能与患慢性肺病的风险增加有关。

JAMA Netw Open:孕期补充高剂量维生素D并不能改善后代的神经发育

维生素D缺乏症是缺乏维生素D所表现出来的一系列病症,可能是由于摄入的维生素D不足,并且没有接受足够多的阳光照射导致的,也有可能是体内发生的紊乱导致维生素D的吸收受限。

JAMA Netw Open:补充 3 倍标准剂量的维生素D对健康足月婴幼儿神经发育的影响

高于标准剂量的维生素 D3 剂量对两岁以下婴幼儿的神经发育没有系统性益处

JNO:新生儿先天性心脏手术后神经发育与环己酮水平的关系

环己酮是一种重要的工业溶剂,用作医用塑料的偶联剂。围手术期接触环己酮可能与新生儿心脏手术后神经发育评分较低有关。