Gene: [06p23/SCA1] ataxin 1; spinocerebellar ataxia 1 (olivopontocerebellar atrophy 1; MIM:164400); [OPCA1 ]

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."

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)."

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)."

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

KEY

neu, devd, tri

CLA

coding, basic

LOC

06 p23

MIM

MIM: 601556

SYN

OPCA1

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