title: A clinical staging classification for type C Niemann-Pick disease.
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 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.
authors.affiliation: Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892.
authors.forename: J J
authors.initials: JJ
authors.lastname: Higgins
authors.forename: M C
authors.initials: MC
authors.lastname: Patterson
authors.forename: J M
authors.initials: JM
authors.lastname: Dambrosia
authors.forename: A T
authors.initials: AT
authors.lastname: Pikus
authors.forename: P G
authors.initials: PG
authors.lastname: Pentchev
authors.forename: S
authors.initials: S
authors.lastname: Sato
authors.forename: R O
authors.initials: RO
authors.lastname: Brady
authors.forename: N W
authors.initials: NW
authors.lastname: Barton
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002788:Cholesterol Esters / Q000378:metabolism; D004569:Electroencephalography; D005071:Evoked Potentials / Q000502:physiology; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009542:Niemann-Pick Diseases / Q000145:classification* / Q000401:mortality / Q000503:physiopathology; D012307:Risk Factors; D016019:Survival Analysis
chemical_list: D002788:Cholesterol Esters