Clinical Review of Juvenile Huntington's Disease.

IF 2.1 Q3 NEUROSCIENCES
Mayke Oosterloo, Alexiane Touze, Lauren M Byrne, Jannis Achenbach, Hande Aksoy, Annabelle Coleman, Dawn Lammert, Martha Nance, Peggy Nopoulos, Ralf Reilmann, Carsten Saft, Helen Santini, Ferdinando Squitieri, Sarah Tabrizi, Jean-Marc Burgunder, Oliver Quarrell
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引用次数: 0

Abstract

 Juvenile Huntington's disease (JHD) is rare. In the first decade of life speech difficulties, rigidity, and dystonia are common clinical motor symptoms, whereas onset in the second decade motor symptoms may sometimes resemble adult-onset Huntington's disease (AOHD). Cognitive decline is mostly detected by declining school performances. Behavioral symptoms in general do not differ from AOHD but may be confused with autism spectrum disorder or attention deficit hyperactivity disorder and lead to misdiagnosis and/or diagnostic delay. JHD specific features are epilepsy, ataxia, spasticity, pain, itching, and possibly liver steatosis. Disease progression of JHD is faster compared to AOHD and the disease duration is shorter, particularly in case of higher CAG repeat lengths. The diagnosis is based on clinical judgement in combination with a positive family history and/or DNA analysis after careful consideration. Repeat length in JHD is usually > 55 and caused by anticipation, usually via paternal transmission. There are no pharmacological and multidisciplinary guidelines for JHD treatment. Future perspectives for earlier diagnosis are better diagnostic markers such as qualitative MRI and neurofilament light in serum.

青少年亨廷顿氏病临床回顾。
青少年亨廷顿氏病(JHD)非常罕见。在患者出生后的头十年,常见的临床运动症状是言语困难、僵直和肌张力障碍,而在第二个十年发病时,运动症状有时会与成人亨廷顿病(AOHD)相似。认知能力下降主要是通过学习成绩下降发现的。行为症状一般与AOHD无异,但可能与自闭症谱系障碍或注意缺陷多动障碍混淆,导致误诊和/或诊断延误。JHD的特殊症状包括癫痫、共济失调、痉挛、疼痛、瘙痒,可能还有肝脏脂肪变性。与AOHD相比,JHD的疾病进展较快,病程较短,尤其是CAG重复长度较高的病例。诊断依据是临床判断、阳性家族史和/或经过仔细考虑的DNA分析。JHD的重复长度通常大于55,由预期引起,通常通过父系遗传。目前还没有治疗 JHD 的药物和多学科指南。未来,更好的诊断标志物(如核磁共振成像定性和血清中的神经丝光)将有助于早期诊断。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
CiteScore
4.80
自引率
9.70%
发文量
60
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