A clinical staging classification for type C Niemann-Pick disease.
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.
Higgins
J J
JJ
Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892.
Patterson
M C
MC
Dambrosia
J M
JM
Pikus
A T
AT
Pentchev
P G
PG
Sato
S
S
Brady
R O
RO
Barton
N W
NW
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
D002788:Cholesterol Esters