查尔洛夫-萨格奈痉挛性共济失调的临床表现和早期演变。
Clinical presentation and early evolution of spastic ataxia of Charlevoix-Saguenay.
机构信息
Unité des Troubles du Mouvement André-Barbeau, Services de Neurologie et de Médecine Génique, Département de Médecine, Faculté de Médecine et Centre Hospitalier de l'Université de Montréal, Montréal, Quebec, Canada.
出版信息
Mov Disord. 2013 Dec;28(14):2011-4. doi: 10.1002/mds.25604. Epub 2013 Aug 2.
BACKGROUND
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an increasingly recognized form of spastic ataxia worldwide, but early diagnosis remains a challenge.
METHODS
We reviewed the initial presentation (n = 40) and early clinical evolution (n = 50) of a large ARSACS cohort that was followed at the Saguenay Neuromuscular clinic.
RESULTS
The average age at presentation was 3.41 ± 1.55 years. Increased deep tendon reflexes were more common than spasticity initially, and the neuropathy only became apparent clinically in the second decade. Despite a homogeneous genetic background, some patients showed no signs of neuropathy or spasticity by the age of 18 years.
CONCLUSIONS
At presentation, ARSACS lacks certain features that are considered typical in adults after years of evolution. Considering that ARSACS is probably under-diagnosed, it should be included in the differential diagnosis of early onset ataxias with or without pyramidal features and is worthwhile to consider in older patients, even when some features are absent.
背景
查尔洛夫克-萨格奈痉挛性共济失调（ARSACS）是一种在全球范围内越来越被认识到的痉挛性共济失调形式，但早期诊断仍然具有挑战性。
方法
我们回顾了在萨格奈神经肌肉诊所接受随访的大型 ARSACS 队列的初始表现（n=40）和早期临床演变（n=50）。
结果
平均发病年龄为 3.41±1.55 岁。最初，深腱反射比痉挛更为常见，神经病仅在第二个十年才在临床上显现。尽管具有同质的遗传背景，但有些患者在 18 岁时仍没有神经病或痉挛的迹象。
结论
在发病时，ARSACS 缺乏在多年演变后被认为是成人典型的某些特征。考虑到 ARSACS 可能被低估，因此应将其纳入具有或不具有锥体束特征的早发性共济失调的鉴别诊断中，即使某些特征缺失，在老年患者中也值得考虑。
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