Neurofibromatosis(NF)

2004.04.12.

2004.04.10.

(http://www.bhp-gc.tw/front/bin/home.phtml)

1882 Dr.Friedrich Von Recklinghausen

Frederich Von Recklinghausen

(Proteus Syndrome)

()

17

1/2

1/2 1/2

(new mutations)

1/3,5000~1/4,000

NFI 17 NFI 1/3,500 1/4,500

()
NFII 22 1/33,000-40,000(
= acoustic neuroma)(meningiomas)

(cafe-au-lait spots)
1.5 cm (cafe-au-lait spots)

(Neurofibroma)

(Lisch nodule)

90~100%

30~50%:


10~20%

50%30%

(physical examination)
(gene linkage
test)

The National Neurofibromatosis Foundation

http://www.nf.org/
National Neurofibromatosis Foundation (USA)
http://www.ulaval.ca/vrr/rech/Prog/org010719.html
1501
Neurofibromatosis
Neurofibromatosis
(http://www.tfrd.org.tw)

(NF1) Von Recklinghausen

50% 50%

1
(Cafe au lait spots)
95-100%

2(Neurofibroma)

3 (Lisch nodule)

90-100%

4
3050%:

1020%
(5%)

6
50%30%

1(Plexiform neurofibroma)

22%
Spenoidal wing dysplasia (Pseudoarthrosis)

3 (Optic glioma)
5%

4(Cancer)
5%
()


Neurofibromatosis, NF I
: e
(http://ntuh.mc.ntu.edu.tw/gene/genehelp/database/disease/NFI_940801.htm)

17

1/2

1/2 1/2
(new mutations)

1/3,5000~1/4,000

6,000

(cafe-au-lait spots)
1.5 cm (cafe-au-lait spots)

(Neurofibroma)

(Lisch nodule)

90~100%

30~50%:

10~20%

50%30%

NFI 17 NFI 1/3,500 1/4,500(

)
NFII 22 1/33,000-40,000(
=(acoustic neuroma)(meningiomas)

(physical examination)
(gene linkage test)

1. 2.
DHPLC
60
RNA-base 95

Neurofibromin Loss of function Neurofibromin Gain-of

function

(---94.05.28.)