In older publications (16–23) the individuals were recorded according to clinical and/or morphological data [presence of intracellular bodies observed by transmission electron microscopy (TEM)], resulting in clinical definitions (e.g., Santavuori-Haltia disease or Jansky-Bielschowsky disease, later redefined as CLN1 and CLN2 diseases, respectively; infantile NCL [INCL], LINCL, JNCL). The gene discussed is PPT1; the disease is infantile neuronal ceroid lipofuscinosis.