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| RETINAL DEGENERATION CHARACTERIZES A SPINOCEREBELLAR ATAXIA MAPPING TO CHROMOSOME 3P |
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| Author(s): GOUW LG, KAPLAN CD, HAINES JH, DIGRE KB, RUTLEDGE SL, MATILLA A, LEPPERT M, ZOGHBI HY, PTACEK LJ |
| Source: NATURE GENETICS Volume: 10 Issue: 1 Pages: 89-93 Published: MAY 1995 |
| Times Cited: 121 References: 34 |
| Abstract: A heterogeneous group of neurological disorders known as the spinocerebellar ataxias (SCA) are characterized by degeneration of the cerebellum, spinal cord and brainstem. We describe linkage analysis in four unusual SCA families revealing a distinct disease locus on chromosome 3p14-21.1. The disease in these families is distinguished from other forms of SCA by concomitant retinal degeneration. Initial visual problems leading to blindness, disabling ataxia and anticipation are seen in all kindreds. The anticipation in these families suggests a dynamic mutation at this locus. Eventual molecular characterization of this disease may provide valuable insights into the processes of both neural and retinal degeneration. |
| Document Type: Article |
| Language: English |
Addresses:
1. UNIV UTAH, DEPT HUMAN GENET, SALT LAKE CITY, UT 84112 USA
2. UNIV UTAH, DEPT NEUROL, SALT LAKE CITY, UT 84112 USA
3. UNIV UTAH, DEPT OPHTHALMOL, SALT LAKE CITY, UT 84112 USA
4. OREGON EYE ASSOCIATES, EUGENE, OR 97401 USA
5. UNIV ALABAMA, DEPT PEDIAT, BIRMINGHAM, AL 35233 USA
6. BAYLOR COLL MED, DEPT PEDIAT, HOUSTON, TX 77030 USA
7. BAYLOR COLL MED, DEPT MOLEC & HUMAN GENET, HOUSTON, TX 77030 USA |
| Publisher: NATURE PUBLISHING CO, 345 PARK AVE SOUTH, NEW YORK, NY 10010-1707 |
| Subject Category: Genetics & Heredity |
| IDS Number: QX573 |
| ISSN: 1061-4036 |
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| | | | | | | | | Record from Web of Science® | | | | | | | | | |