Ceroid Storage Disease

Watchlist

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

PPT1, TPP1, CLN6, ATP13A2, CLN3, TAC1, PPP5C, PPT2, GFAP, HRAS, MYCL, NPHS1, CASP3, GAP43, RPS6KB1, SCP2, STXBP1, DPYSL2, VIM, CASP4, SIRT1, CAPN3

Drugs

Adeno-associated viral vector serotype 9 containing the human CLN1 gene, Brivaracetam, Gemfibrozil

Adeno-associated viral vector serotype 9 containing the human CLN1 gene, Brivaracetam, Gemfibrozil, Recombinant self-complementary adeno-associated viral vector serotype 9 containing the human CLN3 gene, recombinant self-complementary adeno-associated viral vector serotype 9 (AAV9) containing the human CLN3 gene, recombinant self-complementary adeno-associated viral vector serotype 9 containing the human CLN6 gene

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Oppenheimer and Andrews (1959) reported 2 cases: a 4-year-old white male from West Virginia who died from liver failure and had ceroid deposits of liver, spleen and intestinal mucosa, and a white 22-month-old female who at autopsy had ceroid limited largely to hepatic macrophages. The sister and 2 brothers reported by Nelson et al. (1961) may have had the same condition. The isolated case reported by Jonas (1966) may have had the same or a related condition.

Menkes (1982) reviewed the paper by Ryan et al. (1970) and suggested, mainly on clinical grounds because the electron microscopy was unsatisfactory, that the correct diagnosis was the Finnish or Santavuori type of infantile neuronal ceroid lipofuscinosis (256730).