Abstract
Amyotrophic lateral sclerosis (ALS) is a degenerative disorder characterized by selective damage to the neural system that mediates voluntary movement. Death usually occurs within a few years of onset. Although the pathophysiologic process of ALS remains unknown, about 5 to 10% of cases are familial. We recently identified five different mutations in six familial ALS (FALS) families. The mutations identified in our FALS families are H46R, L84V, I104F, S134N, V148I. The enzymatic activities of Cu/Zn SOD of erythrocyte or skin fibroblasts were significantly reduced in the all affected patients. These mutations account for fifty percent of all FALS families screened, although Cu/Zn SOD mutations are responsible for less than twenty percent in Western population. Our results indicate that the progression of the disease with Cu/Zn SOD mutations is usually related to each mutation.
| Original language | English |
|---|---|
| Pages (from-to) | 28 |
| Number of pages | 1 |
| Journal | Japanese Journal of Human Genetics |
| Volume | 41 |
| Issue number | 1 |
| Publication status | Published - 1996 |
| Externally published | Yes |
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ASJC Scopus subject areas
- Genetics(clinical)
- Genetics
Cite this
Molecular analyses of Cu/Zn superoxide dismutase gene in patients with familial amyotrophic lateral sclerosis (ALS). / Aoki, Masashi; Abe, Koji; Ogasawara, Masahito; Aoki, Yoko; Matsubara, Yoichi; Narisawa, Kuniaki; Watanabe, Mitsunori; Ikeda, Masaki; Houi, Kouji; Mocfflo, Soichiro; Kurokawa, Katsuro; Kato, Takeo; Sasaki, Hideo; Sakuma, Ryo; Kameya, Takeshi; Nakamura, Shyozo; Itoyama, Yasuto.
In: Japanese Journal of Human Genetics, Vol. 41, No. 1, 1996, p. 28.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Molecular analyses of Cu/Zn superoxide dismutase gene in patients with familial amyotrophic lateral sclerosis (ALS)
AU - Aoki, Masashi
AU - Abe, Koji
AU - Ogasawara, Masahito
AU - Aoki, Yoko
AU - Matsubara, Yoichi
AU - Narisawa, Kuniaki
AU - Watanabe, Mitsunori
AU - Ikeda, Masaki
AU - Houi, Kouji
AU - Mocfflo, Soichiro
AU - Kurokawa, Katsuro
AU - Kato, Takeo
AU - Sasaki, Hideo
AU - Sakuma, Ryo
AU - Kameya, Takeshi
AU - Nakamura, Shyozo
AU - Itoyama, Yasuto
PY - 1996
Y1 - 1996
N2 - Amyotrophic lateral sclerosis (ALS) is a degenerative disorder characterized by selective damage to the neural system that mediates voluntary movement. Death usually occurs within a few years of onset. Although the pathophysiologic process of ALS remains unknown, about 5 to 10% of cases are familial. We recently identified five different mutations in six familial ALS (FALS) families. The mutations identified in our FALS families are H46R, L84V, I104F, S134N, V148I. The enzymatic activities of Cu/Zn SOD of erythrocyte or skin fibroblasts were significantly reduced in the all affected patients. These mutations account for fifty percent of all FALS families screened, although Cu/Zn SOD mutations are responsible for less than twenty percent in Western population. Our results indicate that the progression of the disease with Cu/Zn SOD mutations is usually related to each mutation.
AB - Amyotrophic lateral sclerosis (ALS) is a degenerative disorder characterized by selective damage to the neural system that mediates voluntary movement. Death usually occurs within a few years of onset. Although the pathophysiologic process of ALS remains unknown, about 5 to 10% of cases are familial. We recently identified five different mutations in six familial ALS (FALS) families. The mutations identified in our FALS families are H46R, L84V, I104F, S134N, V148I. The enzymatic activities of Cu/Zn SOD of erythrocyte or skin fibroblasts were significantly reduced in the all affected patients. These mutations account for fifty percent of all FALS families screened, although Cu/Zn SOD mutations are responsible for less than twenty percent in Western population. Our results indicate that the progression of the disease with Cu/Zn SOD mutations is usually related to each mutation.
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UR - http://www.scopus.com/inward/citedby.url?scp=33748188126&partnerID=8YFLogxK
M3 - Article
VL - 41
SP - 28
JO - Journal of Human Genetics
JF - Journal of Human Genetics
SN - 1434-5161
IS - 1
ER -