Familial Pallidal Disease With Unusual Features in Negroes

Herman, Marta; Schilder, Paul

doi:10.1001/archneurpsyc.1933.02240120147014

Cited by 4 publications

(2 citation statements)

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“…Information on the ethnic and national background of the different families was not found in all the cases, and in most of them we assigned nationality according to the country from which the report originated. The familial cases have been reported from: Germany, 2 (Hallervorden & Spatz 1922, Kalinowsky 1927USA, 3 (Winkelman 1932, Herman & Schilder 1933, Benda 1949; Italy, 2 (Bini & Papetti 1943, Dooling et al 1974; Belgium, 2 (Myle & Fadilogu 1967, Radermecker & Rizzuto 1967; and one each from the following countries: Brazil (Borges-Fortes 1947), Romania (Urechia et al 1950), Switzerland (Rabinowicz & Wildi 1957), Hungary (Kornyey 1964), Japan (Yanagisawa et al 1966), Yugoslavia (GrEeviE 1966), Canada (Rozdilsky et al 1968, and the Columbian family, subject of this report.…”

Section: Discussionmentioning

confidence: 99%

“…c. The pigment abnormalities reported in the skin of several patients (Hallervorden & Spatz 1922, GrEeviE 1966, Myle & Fadilogu 1967. d. The alterations of the visual function described in some cases as retinitis pigmentosa ( Winkelman 1932, Urechia et al 1950, Yanagisawa et al 1966, and in some other cases as visual abnormalities (Kalinowsky 1927, Herman & Schilder 1933. Treatment of terminal cases of Hallervorden-Spatz disease with L-DOPA has not led to any improvement (Dooling et al 1974).…”

Section: Discussionmentioning

confidence: 99%

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Hallervorden‐Spatz disease

Elejalde

López

1979

Clinical Genetics

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We had the opportunity to study a family, five of whose members were affected by the Hallervorden‐Spatz disease (three males and twin girls). The characteristics of the condition were analyzed and compared with those cases considered by other authors to be affected by the condition. Intrafamilial and interfamilial variations were analysed, and it was the latter that contributed most to the overall variation of the condition. It was clearly established from the reported cases and our family that this is an autosomal recessive condition (P> 0.23 ± 0.08). It is suggested that the condition probably originated in Europe and that it is caused by an inborn error of metabolism related to neuromelanin and the dopaminergic system. The condition affects the muscular tone and voluntary movements progressively, making voluntary coordinated movements, and chewing and swallowing almost impossible, and in the last part of its development mental deterioration, emaciation, severe feeding difficulties and visual impairment are common clinical manifestations. The ages of both onset and death are distributed in a unimodal curve. The mean survival time after diagnosis was 11.18 ± 7.8 years.

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