A clinical staging classification for type C niemann-pick disease

Joseph J. Higgins, M. C. Patterson, J. M. Dambrosia, A. T. Pikus, P. G. Pentchev, S. Sato, R. O. Brady, N. W. Barton

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62 Scopus citations


Analysis of the temporal sequence of neurologic events, neurophysiologic abnormalities, and longevity in 36 Niemann-Pick type C patients revealed two clinical subgroups with five stages of severity within each group. Patients with a preschool onset (group I; n = 18) had a higher mortality than did patients with a school-age onset (group II; n = 18). An asymptomatic phase (stage 0) was defined by biochemical and histopathologic evidence of disease. The initial manifestations of stage 1 were a movement disorder (group I) and cognitive difficulties (group II) accompanied by impaired vertical saccadic eye movements and abnormal acoustic reflexes. Stage 2 was characterized by the sequential occurrence of vertical supranuclear gaze palsy (VSGP), cognitive difficulties, and dysarthria in group I and a movement disorder, VSGP, and dysarthria in group II. Pyramidal tract signs and abnormal brainstem auditory evoked responses defined stage 3 in both groups. Stage 4 culminated in a nonambulant, vegetative state.

Original languageEnglish (US)
Pages (from-to)2286-2290
Number of pages5
Issue number12
StatePublished - Dec 1992

ASJC Scopus subject areas

  • Clinical Neurology

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    Higgins, J. J., Patterson, M. C., Dambrosia, J. M., Pikus, A. T., Pentchev, P. G., Sato, S., Brady, R. O., & Barton, N. W. (1992). A clinical staging classification for type C niemann-pick disease. Neurology, 42(12), 2286-2290. https://doi.org/10.1212/wnl.42.12.2286