| Autor: |
J K, Fink, S, Rainer, J, Wilkowski, S M, Jones, A, Kume, P, Hedera, R, Albin, J, Mathay, L, Girbach, T, Varvil, B, Otterud, M, Leppert |
| Rok vydání: |
1996 |
| Předmět: |
|
| Zdroj: |
American journal of human genetics. 59(1) |
| ISSN: |
0002-9297 |
| Popis: |
Paroxysmal dystonic choreoathetosis (PDC) is characterized by attacks of involuntary movements that last up to several hours and occur at rest both spontaneously and following caffeine or alcohol consumption. We analyzed a Polish-American kindred with autosomal dominant PDC and identified tight linkage between the disorder and microsatellite markers on chromosome 2q (maximum two-point LOD score 4.77; recombination fraction 0). Our results clearly establish the existence of a locus for autosomal dominant PDC on distal chromosome 2q. The fact that three other paroxysmal neurological disorders (periodic ataxia with myokymia and hypo- and hyperkalemic periodic paralysis) are due to mutation in ion-channel genes raises the possibility that PDC is also due to an ion-channel gene mutation. It is noteworthy that a cluster of sodium-channel genes is located on distal chromosome 2q, near the PDC locus. Identifying the PDC locus on chromosome 2q will facilitate discovery of the PDC gene and enable investigators to determine whether PDC is genetically homogeneous and whether other paroxysmal movement disorders are also genetically linked to the PDC locus. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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