TY - JOUR
T1 - Acid sphingomyelinase deficiency
T2 - Prevalence and characterization of an intermediate phenotype of Niemann-Pick disease
AU - Wasserstein, Melissa P.
AU - Aron, Alan
AU - Brodie, Scott E.
AU - Simonaro, Calogera
AU - Desnick, Robert J.
AU - McGovern, Margaret M.
PY - 2006/10
Y1 - 2006/10
N2 - Objective: To document the prevalence of neurologic disease in Niemann-Pick disease (NPD) NPD-B. Study design: Sixty-four patients with NPD-B had detailed neurologic and ophthalmologic evaluations. The presence of neurologic abnormalities was compared with genotype. Results: Nineteen of 64 patients (30%) had neurologic abnormalities, which were minor and nonprogressive in 14 (22%), and global and progressive in 5 (8%). In these five patients, the onset of neurologic difficulties occurred between 2 and 7 years of age and was associated with peripheral neuropathy, retinal abnormalities, and the Q292K mutation. No patients with at least one copy of ΔR608 had neurologic involvement. Conclusions: The majority of patients with NPD-B have no neurologic abnormalities. In patients with neurologic abnormalities, the findings can be minor and static or severe and progressive. The latter phenotype follows a course distinct from that of classic NPD-A and is associated with the Q292K mutation and characteristic retinal findings. Thus, similar to other lysosomal storage disorders, there is a broad spectrum of neurologic abnormalities in acid sphingomyelinase deficiency, which makes the current classification scheme inaccurate.
AB - Objective: To document the prevalence of neurologic disease in Niemann-Pick disease (NPD) NPD-B. Study design: Sixty-four patients with NPD-B had detailed neurologic and ophthalmologic evaluations. The presence of neurologic abnormalities was compared with genotype. Results: Nineteen of 64 patients (30%) had neurologic abnormalities, which were minor and nonprogressive in 14 (22%), and global and progressive in 5 (8%). In these five patients, the onset of neurologic difficulties occurred between 2 and 7 years of age and was associated with peripheral neuropathy, retinal abnormalities, and the Q292K mutation. No patients with at least one copy of ΔR608 had neurologic involvement. Conclusions: The majority of patients with NPD-B have no neurologic abnormalities. In patients with neurologic abnormalities, the findings can be minor and static or severe and progressive. The latter phenotype follows a course distinct from that of classic NPD-A and is associated with the Q292K mutation and characteristic retinal findings. Thus, similar to other lysosomal storage disorders, there is a broad spectrum of neurologic abnormalities in acid sphingomyelinase deficiency, which makes the current classification scheme inaccurate.
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U2 - 10.1016/j.jpeds.2006.06.034
DO - 10.1016/j.jpeds.2006.06.034
M3 - Article
C2 - 17011332
AN - SCOPUS:33748984649
SN - 0022-3476
VL - 149
SP - 554
EP - 559
JO - Journal of Pediatrics
JF - Journal of Pediatrics
IS - 4
ER -