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Variable Expressivity in Familial Restless Legs Syndrome
Arthur S. Walters, MD;
Daniel Picchietti, MD;
Wayne Hening, MD, PhD;
Alice Lazzarini, MS
Arch Neurol. 1990;47(11):1219-1220.
Abstract
• A 62-year-old man with a 20-year history of excessive daytime somnolence and kicking during sleep was an obligate carrier of the restless legs syndrome gene because his paternal grandfather, father, and all three of his children had symptoms of restless legs syndrome. The patient himself, however, denied motor restlessness after a careful and exhaustive medical history and he was originally believed to have periodic movements in sleep without restless legs. Close clinical observation did reveal nighttime motor restlessness, although the patient continued to deny its importance. Polysomnography showed frequent periodic movements in sleep. We conclude that there can be variable expressivity of the clinical features in familial restless legs syndrome and that there are probably some relatively nonrestless patients with prominent periodic movements in sleep who are carriers of the restless legs syndrome gene. Some sleepdisordered patients who are believed to have only periodic movements in sleep may have a forme fruste of autosomal dominant restless legs syndrome. If one does not examine these patients carefully at night and take an adequate family history, one may miss the diagnosis of restless legs syndrome.
Author Affiliations
From the Movement Disorder Group, Department of Neurology, University of Medicine and Dentistry of New Jersey-Robert Wood Johnson Medical School, New Brunswick (Dr Walters); Neurology Service, Lyons (NJ) Veterans Affairs Medical Center (Drs Walters and Hening); Carle Regional Sleep Disorders Center, Urbana, Ill (Dr Picchietti); and the Division of Human Genetics and Department of Pediatrics, University of Medicine and Dentistry of New Jersey-School of Osteopathic Medicine, Camden (Ms Lazzarini).
Footnotes
Accepted for publication February 28, 1990.
Reprint requests to the Department of Neurology, CN 19, University of Medicine and Dentistry of New Jersey-Robert Wood Johnson Medical School, New Brunswick, NJ 08903-0019 (Dr Walters).
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