Abstract

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.