Acid sphingomyelinase deficiency

Prevalence and characterization of an intermediate phenotype of Niemann-Pick disease

Melissa P. Wasserstein, Alan Aron, Scott E. Brodie, Calogera Simonaro, Robert J. Desnick, Margaret M. McGovern

Research output: Contribution to journalArticle

54 Citations (Scopus)

Abstract

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.

Original languageEnglish (US)
Pages (from-to)554-559
Number of pages6
JournalJournal of Pediatrics
Volume149
Issue number4
DOIs
StatePublished - Oct 2006
Externally publishedYes

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Type A Niemann-Pick Disease
Niemann-Pick Diseases
Nervous System Malformations
Phenotype
Acids
Nervous System
Mutation
Peripheral Nervous System Diseases
Neurologic Manifestations
Nervous System Diseases
Genotype

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Acid sphingomyelinase deficiency : Prevalence and characterization of an intermediate phenotype of Niemann-Pick disease. / Wasserstein, Melissa P.; Aron, Alan; Brodie, Scott E.; Simonaro, Calogera; Desnick, Robert J.; McGovern, Margaret M.

In: Journal of Pediatrics, Vol. 149, No. 4, 10.2006, p. 554-559.

Research output: Contribution to journalArticle

Wasserstein, Melissa P. ; Aron, Alan ; Brodie, Scott E. ; Simonaro, Calogera ; Desnick, Robert J. ; McGovern, Margaret M. / Acid sphingomyelinase deficiency : Prevalence and characterization of an intermediate phenotype of Niemann-Pick disease. In: Journal of Pediatrics. 2006 ; Vol. 149, No. 4. pp. 554-559.
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