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Article
January 1967

The Mast SyndromeA Recessively Inherited Form of Presenile Dementia With Motor Disturbances

Author Affiliations

BALTIMORE
From the Division of Medical Genetics, Department of Medicine, the Johns Hopkins University School of Medicine, and the Johns Hopkins Hospital, Baltimore.

Arch Neurol. 1967;16(1):1-13. doi:10.1001/archneur.1967.00470190005001
Abstract

MANY aspects of the nosology of hereditary degenerative disorders of the nervous system remain obscure, and as yet no adequate system of classification is available.1 In considerable part this is due to insufficient clinical, biochemical, pathological, and genetic information. The rarity of many neurological disorders makes a comprehensive study difficult, and few observers are able to personally examine sufficient material to make valid comparisons.1,2

Several types of genetic information derived from inbred populations may be especially useful in the investigation of heredodegenerative neurological disorders. The Old Order Amish of Holmes County, Ohio, and similar settlements in Indiana and Pennsylvania, each comprise a genetic isolate with many characteristics favorable for genetic studies.3 A preliminary communication4 reported several previously undescribed hereditary neurological syndromes found among the Ohio Amish. This report presents detailed clinical and genetic findings of one of these disorders tentatively designated the Mast syndrome from

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