A clinical staging classification for type C Niemann-Pick disease

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

Research output: Contribution to journalArticle

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Abstract

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 supranuelear 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
JournalNeurology
Volume42
Issue number12
StatePublished - 1992
Externally publishedYes

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Type C Niemann-Pick Disease
Dysarthria
Movement Disorders
Paralysis
Persistent Vegetative State
Abnormal Reflexes
Pyramidal Tracts
Brain Stem Auditory Evoked Potentials
Saccades
Age of Onset
Nervous System
Sequence Analysis
Age Groups
Mortality

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Higgins, J. J., Patterson, M. C., Dambrosia, J. M., Pikus, A. T., Pentchev, P. G., Sato, S., ... Barton, N. W. (1992). A clinical staging classification for type C Niemann-Pick disease. Neurology, 42(12), 2286-2290.

A clinical staging classification for type C Niemann-Pick disease. / Higgins, J. J.; Patterson, M. C.; Dambrosia, J. M.; Pikus, A. T.; Pentchev, P. G.; Sato, S.; Brady, R. O.; Barton, N. W.

In: Neurology, Vol. 42, No. 12, 1992, p. 2286-2290.

Research output: Contribution to journalArticle

Higgins, JJ, Patterson, MC, Dambrosia, JM, Pikus, AT, Pentchev, PG, Sato, S, Brady, RO & Barton, NW 1992, 'A clinical staging classification for type C Niemann-Pick disease', Neurology, vol. 42, no. 12, pp. 2286-2290.
Higgins JJ, Patterson MC, Dambrosia JM, Pikus AT, Pentchev PG, Sato S et al. A clinical staging classification for type C Niemann-Pick disease. Neurology. 1992;42(12):2286-2290.
Higgins, J. J. ; Patterson, M. C. ; Dambrosia, J. M. ; Pikus, A. T. ; Pentchev, P. G. ; Sato, S. ; Brady, R. O. ; Barton, N. W. / A clinical staging classification for type C Niemann-Pick disease. In: Neurology. 1992 ; Vol. 42, No. 12. pp. 2286-2290.
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