Spongy degeneration of the brain in Israel: A retrospective study
作者:
Moshe Ungar,
R. M. Goodman,
期刊:
Clinical Genetics
(WILEY Available online 1983)
卷期:
Volume 23,
issue 1
页码: 23-29
ISSN:0009-9163
年代: 1983
DOI:10.1111/j.1399-0004.1983.tb00432.x
出版商: Blackwell Publishing Ltd
关键词: Canavan disease;genetic disease in Jews;leukodystrophy;recessive disease;spongy degeneration of brain
数据来源: WILEY
摘要:
Spongy degeneration of the brain is a rare autosomal recessive disorder found predominantly in Ashkenazi Jews. In a recent review, 48 families were found to be affected with this disease. This report deals with a survey of this condition in Israel between the years 1965–1980. Eleven families with 17 affected children were ascertained. All records on these patients were reviewed and each family was visited. All the families were Jewish, comprising 7 Ashkenazi, 1 Sephardi, 2 Oriental and 1 mixed Ashkenazi‐Oriental family. Parental consanguinity was noted only in the Sephardi and Oriental families, suggesting the rareness of the gene in these populations, versus its relatively more frequent occurrence among Ashkenazi Jews. Various clinical and histopathological findings observed in our study are compared to those reported in the literat
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