Types A and B Niemann-Pick disease

Schuchman, Edward H.; Wasserstein, Melissa P.

doi:10.1016/j.beem.2014.10.002

Cited by 108 publications

(127 citation statements)

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“…Although in the liver the condition involves mainly the reticuloendothelial system, foamy inclusions are present also in the hepatocytes and in the bile duct epithelium of these patients. (4) NPD types A and B have been considered disorders for which the natural course cannot be altered significantly because of the lack of a specific treatment. McGovern et al (5) described the morbidity and mortality of 103 patients affected by NPD type B (range, age 2-72 years).…”

Section: See Article On Page 1233mentioning

confidence: 99%

“…Editorial | 1141 be effective on visceral symptoms, it is important to evaluate new therapeutic approaches for neurological disease because olipudase alfa does not cross the bloodbrain barrier. (4) Because of the systemic expression of the disease, liver transplantation (LT) has been considered ineffective in NPD type B, with only 2 cases of LT in 2 adults being reported so far. (5,8) In the current issue of Liver Transplantation, Liu et al describe a unique series of 7 patients affected by NPD type B (although some might be classified as having a type A variant due to neurovisceral involvement) who underwent LT at a median age of 6.5 years because of severe liver and lung dysfunction.…”

Section: Gasperini and D'antigamentioning

confidence: 99%

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Liver Transplantation for Lysosomal Storage Disorders: A Novel Option to Pick

Gasperini

D’Antiga

2019

Liver Transpl

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Section: See Article On Page 1233mentioning

confidence: 99%

Section: Gasperini and D'antigamentioning

confidence: 99%

Liver Transplantation for Lysosomal Storage Disorders: A Novel Option to Pick

Gasperini

D’Antiga

2019

Liver Transpl

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“…Niemann-Pick disease types A and B, caused by mutations in the gene coding for the lysosomal enzyme acid sphingomyelinase, result in the progressive accumulation of sphingomyelin and other lipids in the lysosomes of various tissues [256, 257]. NPC disease, which accounts for the majority of the cases of Niemann-Pick disease, is caused by mutation of either NPC1 gene located on chromosome 18 or NPC2 gene located on chromosome 14.…”

Section: Igf-ii/m6p Receptor In Lysosomal Storage Disorders (Lsds)mentioning

confidence: 99%

Insulin-Like Growth Factor-II/Cation-Independent Mannose 6-Phosphate Receptor in Neurodegenerative Diseases

et al. 2016

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The insulin-like growth factor II/mannose 6-phosphate (IGF-II/M6P) receptor is a multifunctional single-transmembrane glycoprotein. Recent studies have advanced our understanding of the structure, ligand binding properties and trafficking of the IGF-II/M6P receptor. This receptor has been implicated in a variety of important cellular processes including growth and development, clearance of IGF-II, proteolytic activation of enzymes and growth factor precursors, in addition to its well-known role in the delivery of lysosomal enzymes. The IGF-II/M6P receptor, distributed widely in the central nervous system, has additional roles in mediating neurotransmitter release and memory enhancement/consolidation, possibly through activating IGF-II-related intracellular signaling pathways. Recent studies suggest that overexpression of the IGF-II/M6P receptor may have an important role in regulating the levels of transcripts and proteins involved in the development of Alzheimer’s disease (AD) – the prevalent cause of dementia affecting the elderly population in our society. It is reported that IGF-II/M6P receptor overexpression can increase the levels/processing of amyloid precursor protein leading to the generation of β-amyloid peptide, which is associated with degeneration of neurons and subsequent development of AD pathology. Given the significance of the receptor in mediating the transport and functioning of the lysosomal enzymes, it is being considered for therapeutic delivery of enzymes to the lysosomes to treat lysosomal storage disorders. Notwithstanding these results, additional studies are required to validate and fully characterize the function of the IGF-II/M6P receptor in the normal brain and its involvement in various neurodegenerative disorders including AD. It is also critical to understand the interaction between the IGF-II/M6P receptor and lysosomal enzymes in neurodegenerative processes, which may shed some light on developing approaches to detect and prevent neurodegeneration through the dysfunction of the receptor and the endosomal-lysosomal system.

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“…Niemann–Pick disease (NPD) is an autosomal recessive disease caused by reduced expression of the enzyme acid sphingomyelinase (ASM), encoded by the sphingomyelin phosphodiesterase 1 ( SMPD1 ) gene, resulting in lysosomal accumulation of sphingomyelin in [1, 2] the brain causing irreversible neurological damage. NPD types A and B are estimated to affect 1 in 250,000 individuals.…”

Section: Introductionmentioning

confidence: 99%

“…Type B is a late-onset non-neuronopathic disease with intermediate clinical presentations that correlate with hepatosplenomegaly and respiratory complications. Most of these cases survive until adulthood [1, 2]. …”

Section: Introductionmentioning

confidence: 99%

Deep sequencing of SMPD1 gene revealed a heterozygous frameshift mutation (p.Ser192Alafs) in a Palestinian infant with Niemann–Pick disease type A: a case report

Nasereddin

Ereqat

2018

J Med Case Reports

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BackgroundNiemann–Pick disease is caused by reduced level of the lysosomal enzyme acid sphingomyelinase. Children can survive between 2 and 12 years based on the disease type. Two main types are well known: type A and B. Niemann–Pick disease type A is characterized by severe central nervous system deterioration and hepatosplenomegaly while type B is a progressive hypersplenism accompanied with gradual deterioration of pulmonary function.Case presentationWe describe an 11-month-old Palestinian baby boy with hepatosplenomegaly, hypotonia, delayed motor development, laryngomalacia, bilateral cherry-red spots, and failure to thrive. Metabolic screening, blood count, differential tests, immunology screen, infectious disease screen, urine, biochemical tests as well as molecular diagnosis were performed. The molecular diagnosis was done by amplifying the whole sphingomyelin phosphodiesterase 1 (SMPD1) gene, followed by deep sequencing. The obtained sequences were aligned, de novo assembled and compared to human reference gene (GenBank GeneID: NG_011780.1, Ensembl version ENSG00000166311 and protein identified as UniProtKB – P17405).Two known mutations were identified in our patient: the pathogenic frameshift mutation NM_000543.4(SMPD1):c.573delT (p.Ser192Alafs) and the benign polymorphism NM_000543.4(SMPD1):c.107T>C (p.Val36Ala). The enzyme study showed a very low level of enzymatic activity of acidic sphingomyelinase (0.1 nmol/ml per hour). Correlations between clinical findings, laboratory data, and sequence analysis are presented.ConclusionsIn conclusion, this is the first report about a heterozygote frameshift p.Ser192AlafsX65 in a Palestinian patient with Niemann–Pick disease type A, emphasizing the importance of deep sequencing in genetic diagnosis of this rare inherited disease.

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Types A and B Niemann-Pick disease

Cited by 108 publications

References 82 publications

Liver Transplantation for Lysosomal Storage Disorders: A Novel Option to Pick

Liver Transplantation for Lysosomal Storage Disorders: A Novel Option to Pick

Insulin-Like Growth Factor-II/Cation-Independent Mannose 6-Phosphate Receptor in Neurodegenerative Diseases

Deep sequencing of SMPD1 gene revealed a heterozygous frameshift mutation (p.Ser192Alafs) in a Palestinian infant with Niemann–Pick disease type A: a case report

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