From the examples given in Table 2, it is difficult to reach definite conclusions for most cases: for ATP13A2, no pathological analysis of Kufor Rakeb brains has been performed yet; the Alzheimer's disease case with a CADASIL-associated mutation is still alive; and for GRN no pathological assessment of the NCL homozygous cases was done, although mice present with typical NCL lesions. The gene discussed is NUCLEOLIN; the disease is early-onset autosomal dominant Alzheimer disease.