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Spongy degeneration of the brain in Israel: A retrospective study
Author(s) -
Ungar Moshe,
Goodman R. M.
Publication year - 1983
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1983.tb00432.x
Subject(s) - consanguinity , chinese family , medicine , disease , retrospective cohort study , pediatrics , pathology , genetics , gene , biology
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 literature.