Mucolipidosis type IV: The origin of the disease in the Ashkenazi Jewish population

Annick Raas-Rothschild, Ruth Bargal, Sergio DellaPergola, Marcia Zeigler, Gideon Bach*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


Mucolipidosis type IV (MLIV) is a neurodegenerative lysosomal storage disease in which most of the patients diagnosed hitherto are Ashkenazi Jews. The basic metabolic defect causing this disease is still unknown and the relevant gene has not yet been mapped or cloned. Seventeen Israel Ashkenazi families with MLIV patients had been interviewed to study their family origin. Although the families immigrated to Israel from various European countries they all could trace their roots three to four generations back to northern Poland or the immediate neighbouring country, Lithuania. Furthermore, there are only one or two ultraorthodox families among the 70-80 Ashkenazi families with MLIV patients worldwide, a marked under-representation of this group which constitutes at least 10% of the Ashkenazi population. This data indicate that MLIV mutation occurred only around the 18th and 19th centuries, after the major expansion of this population, in a founder in this defined European region belonging to a more modern, secular family.

Original languageEnglish
Pages (from-to)496-498
Number of pages3
JournalEuropean Journal of Human Genetics
Issue number4
StatePublished - 1999


  • Ashkenazi Jews
  • Founder
  • Mucolipidosis type IV
  • Origin


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