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| Andersen's syndrome: A distinct periodic paralysis |
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| Author(s): Sansone V, Griggs RC, Meola G, Ptacek LJ, Barohn R, Iannaccone S, Bryan W, Baker N, Janas SJ, Scott W, Ririe D, Tawil R |
| Source: ANNALS OF NEUROLOGY Volume: 42 Issue: 3 Pages: 305-312 Published: SEP 1997 |
| Times Cited: 75 References: 33 |
| Abstract: A previous study of 4 patients defined Andersen's syndrome (AS) as a triad of potassium-sensitive periodic paralysis, ventricular dysrhythmias, and dysmorphic features. AS appears to be distinct in terms of its genetic defect from the alpha-subunit of skeletal muscle sodium channel and the cardiac potassium channel responsible for most long QT syndromes (LQT1). We studied Ii additional patients with AS from 5 kindreds. Spontaneous attacks of paralysis were associated with hypokalemia, normokalemia, or hyperkalemia. All 11 patients had similar dysmorphic features. The QT interval was prolonged in all patients although only 4 were symptomatic. Genetic linkage studies excluded linkage to the a-subunit of the skeletal muscle sodium channel and to four distinct LQT loci. In addition, none of the common dihydropyridine receptor mutations responsible for hypokalemic periodic paralysis were present. We conclude that (1) AS is a genetically unique channelopathy affecting both cardiac and skeletal membrane excitability, (2) attacks of paralysis may be either hypokalemic or hyperkalemic, (3) a prolonged QT interval is an integral feature of this syndrome, and (4) a prolonged QT interval may be the only sign in an individual from an otherwise typical AS kindred. This may be confused with more common, potentially lethal LQT syndromes. |
| Document Type: Article |
| Language: English |
| Reprint Address: Sansone, V (reprint author), UNIV MILAN, SAN DONATO HOSP, DEPT NEUROL, V MORANDI 30, I-20097 SAN DONATO MILANESE, MILAN ITALY |
Addresses:
1. UNIV ROCHESTER, STRONG MEM HOSP, DEPT NEUROL, ROCHESTER, NY 14642 USA
2. UNIV UTAH, DEPT HUMAN MOL GENET, SALT LAKE CITY, UT 84112 USA
3. TEXAS SCOTTISH RITE HOSP CHILDREN, SW MED CTR, DEPT NEUROL, DALLAS, TX 75219 USA
4. OREGON HLTH SCI UNIV, PORTLAND, OR 97201 USA |
| Publisher: LIPPINCOTT-RAVEN PUBL, 227 EAST WASHINGTON SQ, PHILADELPHIA, PA 19106 |
| Subject Category: Clinical Neurology; Neurosciences |
| IDS Number: XV476 |
| ISSN: 0364-5134 |
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