解開小腦萎縮基因密碼
經過十年研究,進一步找到致病機轉,原來是鉀離子通道基因
缺乏一種氨基酸,導致小腦精神細胞逐漸壞死
支鏈胺基酸(BCAA),是白胺酸、異白胺酸和頡胺酸,能補充細胞膜電位,
促進鉀離子通道的形成
脊髓小腦萎縮症 Spinocerebellar ataxia (α1A)
鈣離子通道的α1A基因突變引起神經元鈣離子內流缺陷而致病
證明:
a double-blind crossover study of BCAA therapy was performed
in 16 patients with spinocerebellar degeneration (SCD).
對16例脊髓小腦退化(SCD)患者進行了BCAA治療的雙盲交叉研究。
The patients were treated with BCAA in oral doses
of 1.5, 3.0, or 6.0 g or with placebo daily for 4 weeks in each study phase.
在每個研究階段,患者用口服劑量1.5,3.0或6.0g的BCAA或每日安慰劑治療4週。
The estimated improvement in kinetic functions compared with pretreatment
(p<0.01) was significant after treatment with BCAA, 1.5 and 3.0 g.
BCAA處理1.5和3.0g後,與預處理相比,動力學功能預估的改善(p <0.01)是顯著的。
All of the responders manifested predominantly cerebellar symptoms,
especially those with spinocerebellar ataxia type 6 (SCA6).
所有主要表現為小腦症狀的反應者,尤其是脊髓小腦性共濟失調6型(SCA6)。
Thus, treatment with BCAA may be effective in patients with the cerebellar form of SCD.
因此,用BCAA治療對於患有小腦形式的SCD的患者可能是有效的。
鎂、錳都能減少病理性鈣內流,硒也能間接減少細胞外鈣大量內流
三、
Our aim was to report a new case with cerebellar ataxia
associated with coenzyme Q10 (CoQ) deficiency, the biochemical findings caused
by this deficiency and the response to CoQ supplementation.
報告一例與輔酶Q10(CoQ)缺乏相關的小腦性共濟失調的新病例,
這種缺陷和對輔酶Q補充的反應引起的生化結果。
16 months of CoQ supplementation, the patient is now able to walk unaided
and cerebellar signs have disappeared.
16個月的CoQ補充,患者現在能夠獨立行走,小腦標誌已經消失。
Severe deficiency of Vitamin E can profoundly affect the central nervous system
and can cause ataxia and peripheral neuropathy resembling Friedreich's ataxia.
維生素E的嚴重缺乏會嚴重影響中樞神經系統,並可引起類似弗里德賴希共濟失調的共濟失調
和周圍神經病變。
A family with spinocerebellar ataxia type 8 expansion
and vitamin E deficiency ataxia.
患有脊柱小腦性共濟失調8型擴張和維生素E缺乏性共濟失調的家庭。