Huntington’s disease-like 2 can present as chorea-acanthocytosis
Huntington’s disease-like 2 can present as chorea-acanthocytosis
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亨廷顿病样 2 可表现为舞蹈病-棘红细胞增多症
DOI：
10.1212/wnl.63.5.939-a
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发表时间：
2004
期刊：
影响因子：
9.9
通讯作者：
G. Hirose
中科院分区：
文献类型：
--
作者：
S. Saiki;K. Sakai;M. Saiki;G. Hirose
To the Editor: We read with interest the article by Munger et al.1 A protective effect of sunlight on multiple sclerosis (MS) risk was first suggested by Acheson et al.2 Vitamin D is a potential mediator of this relationship. We are sympathetic to the hypothesis being tested3 by Munger et al. but have the following concerns. 1) NHS studied women age 30, but more than half of female patients with MS have onset below this age. Of those accrued, some 50,000 were excluded from analysis.1 Was this done before testing the vitamin D hypothesis? What were the characteristics, when known, of exclusions for calculated vitamin D estimates compared to those retained? Perhaps MS risk can be altered after age 30, but earlier ages are implicated from migration studies. 2) 61 and then 130 questions were asked in the NHS and NHS II questionnaires. Was correction made for multiple analyses? Could the authors explain the assumptions and approach used to calculate the “p trend” statistic that forms the basis of this report? 3) The apparent association of low MS risk with intake of 400 units of vitamin D from supplements per day seems at odds with the recent report that those intakes of supplements have minimal effects on 25(OH)D levels. Furthermore, young women who took multivitamins were more likely to exercise outdoors. Multivitamin use correlated better with summer 25(OH)D levels than winter.5 Vitamin D production in the skin requires UVB that is not intense enough at latitudes 30 for at least 1 month each winter. 4) The association of MS with latitude seems unambiguous from Kurtzke’s US Veterans’ studies and from Australia.6 The lack of interaction with latitude in this study4 is surprising if vitamin D intake in adulthood is causally related to MS risk, since D levels and putative functional effects are dependent on latitude related UVB. 5) We note that the NHSII cohort had more MS “cases/ person–y” (97/7.5 10) compared to the NHS cohort (76/1.5 10). These data are difficult to compare. As age specific incidences seem less in NHSII, is there evidence for a decreasing incidence or prevalence in the areas surveyed? 6) How does the nurses’ D intake relate to that in the general population? Vitamin intake could vary by ethnicity. Did the definition of “white” include ethnic groups known to be resistant to MS? Recall bias has been reported within weeks of illnessassociated events. Has the accuracy of four yearly reports been validated for the measures in this article?
常染色体显性脊髓小脑共济失调伴感觉轴突神经病 (SCA4)：临床描述和染色体 16q22.1 的遗传定位。
影响因子：
9.8
作者：
Flanigan,K;Gardner,K;Alderson,K;Galster,B;Otterud,B;Leppert,MF;Kaplan,C;Ptácek,LJ
通讯作者：
Ptácek,LJ