Table 2.

Niemann-Pick Disease Type C: Comparison of Age-Related Phenotypes by Select Features

FeaturePhenotypes
Visceral
neurodegenerative		NeurodegenerativePsychiatric-
neurodegenerative
Early infantile
(age <2 yrs)		Late infantile
(2 to <6 yrs)		Juvenile
(6 to <15 yrs)		Adult (>15 yrs)
Hepatomegaly●
Splenomegaly●●(●)
Ataxia●●●
Epilepsy●●(●)
Cataplexy(●)●●
Dementia(●)●
Psychiatric●
Dystonia(●)●●
VSGP●●●

VSGP = vertical supranuclear gaze palsy; (●) = sometimes present; ● = usually present

From: Niemann-Pick Disease Type C

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