Response of Motor Complications in Cockayne Syndrome to Carbidopa-Levodopa

• Published in: Archives of neurology (Chicago) Vol. 65; no. 8; pp. 1117 - 1121
• Main Authors: Neilan, Edward G, Delgado, Mauricio R, Donovan, Melissa A, Kim, Sara Y, Jou, Rita L, Wu, Bai-Lin, Kang, Peter B
• Format: Journal Article
• Language: English
• Published: Chicago, IL American Medical Association 01.08.2008
• Subjects: Adolescent; Biological and medical sciences; Carbidopa - administration & dosage; Clinical trials; Cockayne Syndrome - complications; Cockayne Syndrome - drug therapy; Cockayne Syndrome - genetics; Drug therapy; Drug Therapy, Combination; Drug toxicity and drugs side effects treatment; Female; Genetics; Humans; Levodopa - administration & dosage; Male; Medical sciences; Movement Disorders - complications; Movement Disorders - drug therapy; Movement Disorders - genetics; Mutation; Neurological disorders; Neurology; Pharmacology. Drug treatments; Studies; Toxicity: nervous system and muscle; Cockayne syndrome; Eye disease; Skin disease; Nervous system diseases; Carbidopa; Diseases of the osteoarticular system; ENT disease; Complication; Levodopa; Complex syndrome; Genetic disease
• ISSN: 0003-9942; 2168-6149; 1538-3687; 2168-6157
• DOI: 10.1001/archneur.65.8.1117

BACKGROUND Gait difficulties, tremors, and coordination difficulties are common features of Cockayne syndrome that are consequences of leukodystrophy, cerebellar atrophy, and demyelinating neuropathy, but no pharmacotherapy for these disabling symptoms is available. OBJECTIVE To determine whether carbidopa-levodopa relieves tremors and other motor complications of Cockayne syndrome. DESIGN Mutation analysis and case report study. SETTING Hospital clinic and genetics research laboratory. PATIENTS We studied 3 patients with Cockayne syndrome, a rare autosomal recessive neurodegenerative disorder for which no known treatments are available. INTERVENTION Carbidopa-levodopa therapy. MAIN OUTCOME MEASURES Status of tremors, ability to perform daily tasks, serial physical examinations, and results of handwriting samples. RESULTS All 3 patients had a clear reduction in tremors and improvements in handwriting and manipulation of utensils and cups. CONCLUSIONS Patients with Cockayne syndrome should be evaluated carefully for movement disorders. A clinical trial should be considered to evaluate this therapy further.Arch Neurol. 2008;65(8):1117-1121-->