Gene: [06p23/SCA1] ataxin 1; spinocerebellar ataxia 1 (olivopontocerebellar atrophy 1; MIM:164400); [OPCA1 ]
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PAT |
The disease is characterized as the progressive cerebellum degeneration resulting in disarthria and characteristic alteration of gait. The age of manifestation varies from 20 to 50 years, death occurs usually within 10-15 years after manifestation. The large variation in such symptoms as ophthalmoplegia, dementia, reinforced reflexes, vestibular impairments, tremor, muscular clonus, weakness of distal parts, and spasticity occurs, as conserns the rate of progression and the age of manifestation. This makes the classification rather difficult." |
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CAG |
The next genes for spinocerebellar ataxia have been identified: SCA1 (GEM:06p23/SCA1), SCA2 (GEM:12q241/SCA2), SCA3 (GEM:14q21/MJD), SCA4 (GEM:16q221/SCA4), SCA5 (GEM:11^/SCA5), SCA6 (GEM:19p131/CACNA1A), SCA7 (GEM:03p/SCA7), and SCA8 (GEM:10q2/IOSCA)." |
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LIN |
Loci: FAM:MHC1/06p2133; GEM:06p2/F13A1.
[1] SCA1 is linked with D6S89; SC1 is not linked with HLA; SC1 is not linked with F13A1 (Keats-1991). [2] SCA1 is linked with HLA [>=40cM](Yakura-1974; Jackson-1977; Morton-1980; Zoghbi-1989; Rich-1987; Auburger-1990). [3] SCA1 is linked with D6S89 (Zoghbi-1989; Zoghbi-1991; Ranum-1991)." |
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REF |
LIN,MAP "Auburger &: AJHG, 46, 1163-1177, 1990 CLO,SEQ,STR "Banfi S &: Nature Genet, 7, 513-520, 1994 PAT,MCH "Chung MY &: Nature Genet, 5, 254-258, 1993 PAT,MCH "Genis D &: Neurology, 45, 24-30, 1995 PAT,MCH "Giunti P &: Brain, 117, 645-649, 1994 PAT,MCH "Goldfarb LG &: Ann Neurol, 39, 500-506, 1996 LIN,FOG,PAT "Haines JL &: Neurology, 34, N12, 1542-1548, 1984 POP "Hirayama K &: Acta Neurol Scand, 89, 1-22, 1994 LIN "Jackson &: New Engl J Med, 296, 1138-1141, 1977 PAT,MCH "Jodice C &: AJHG, 54, 959-965, 1994 LIN,PAT "Keats BJ &: AJHG, 49, 972-977, 1991 LIN,FOG,PAT "Morton NE &: Am J Med Genet, 6, 251-257, 1980 PAT,MCH "Orr HT &: Nature Genet, 4, 221-226, 1993 PAT,MCH "Ranum LPW &: AJHG, 57, 603-608, 1995 LIN,MAP "Ranum LPW &: AJHG, 49, 31-41, 1991 LIN,MAP "Rich SS &: CCG, 51, (HGM10), 1066, 1989 LIN "Rich SS &: AJHG, 41, 524-531, 1987 MUT "Robitaille Y &: Acta Neuropathol, 90, 572-581, 1995 PAT,MCH "Suzuki Y &: Jpn J Hum Genet, 40, 131-143, 1995 PAT,MCH "Wakisaka A &: J Med Genet, 32, 590-592, 1995 LIN "Yakura &: New Engl J Med, 291, 154-155, 1974 LIN,MAP "Zoghbi HY &: AJHG, 49, 23-30, 1991 LIN,MAP "Zoghbi HY &: AJHG, 44, 255-263, 1989 |
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KEY |
neu, devd, tri |
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CLA |
coding, basic |
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LOC |
06 p23 |
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MIM |
MIM: 601556 |
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SYN |
OPCA1 |
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