Table 2

Clinical features of NP-C patients

Clinical type Cell strain Ethnic group origin Sex Onset of neurological signs Neurological signs Hepato- spleno- megaly Outcome
Late infantileOHSJPNM1.5 yEpilepsy, psychomotor delayHSM1.5 y (alive)
KURJPNF2.5 yEpilepsy, deteriorationHSM?
INOJPNM2.5 yEpilepsy, deteriorationHSM4.5 y (dead)
TANJPNM2.5 yEpilepsy, ataxia, deteriorationMild SM?
UCHJPNF2.5 yAtaxia, deteriorationHSM5 y (dead)
AMAJPNF3 yEpilepsy, psychomotor delayHSM4 y (alive)
YONJPNF2.5 yEpilepsy, ataxia, deteriorationHSM12 y (alive)
SHIJPNF2.5 yEpilepsy, deteriorationSM4 y (alive)
MURJPNM5 yEpilepsy, deteriorationHSM15 y (dead)
YANJPNF5 yEpilepsy, ataxia, deteriorationNo19 y (alive)
GM03123WhiteF???9 y (alive)
GM110WhiteM5 yEpilepsy, deterioration?10 y (alive)
JuvenileSASJPNF13 yEpilepsy, ataxia, deteriorationMild SM17 y (alive)
ENDJPNM15 yDystonia, ataxia, VSOMild SM17 y (alive)
AdultKAIJPNM25 yDementia, ataxia, dystonia, epilepsy, VSOSM42 y (dead)
  • JPN: Japanese, HSM: hepatosplenomegaly, SM: splenomegaly, VSO: vertical supranuclear ophthalmoplegia.