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Niemann-Pick disease type C, juvenile neurologic onset

MedGen UID:
1842257
•Concept ID:
C5679813
•
Disease or Syndrome
Synonym: Niemann-Pick disease type C, classic form
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0016309
Orphanet: ORPHA216981

Professional guidelines

PubMed

Niemann-Pick Disease, Type C: Diagnosis, Management and Disease-Targeted Therapies in Development.
Berry-Kravis E
Semin Pediatr Neurol 2021 Apr;37:100879. Epub 2021 Feb 12 doi: 10.1016/j.spen.2021.100879. PMID: 33892845
Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update.
Patterson MC, Hendriksz CJ, Walterfang M, Sedel F, Vanier MT, Wijburg F; NP-C Guidelines Working Group
Mol Genet Metab 2012 Jul;106(3):330-44. Epub 2012 May 8 doi: 10.1016/j.ymgme.2012.03.012. PMID: 22572546
New agents and approaches to treatment in Niemann-Pick type C disease.
Pérez-Poyato MS, Pineda M
Curr Pharm Biotechnol 2011 Jun;12(6):897-901. doi: 10.2174/138920111795542697. PMID: 21235443

Recent clinical studies

Etiology

Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR).
Bolton SC, Soran V, Marfa MP, Imrie J, Gissen P, Jahnova H, Sharma R, Jones S, Santra S, Crushell E, Stampfer M, Coll MJ, Dawson C, Mathieson T, Green J, Dardis A, Bembi B, Patterson MC, Vanier MT, Geberhiwot T
Orphanet J Rare Dis 2022 Feb 14;17(1):51. doi: 10.1186/s13023-022-02200-4. PMID: 35164809Free PMC Article
Early detection of Niemann-pick disease type C with cataplexy and orexin levels: continuous observation with and without Miglustat.
Imanishi A, Kawazoe T, Hamada Y, Kumagai T, Tsutsui K, Sakai N, Eto K, Noguchi A, Shimizu T, Takahashi T, Han G, Mishima K, Kanbayashi T, Kondo H
Orphanet J Rare Dis 2020 Sep 29;15(1):269. doi: 10.1186/s13023-020-01531-4. PMID: 32993765Free PMC Article
Treatment outcomes following continuous miglustat therapy in patients with Niemann-Pick disease Type C: a final report of the NPC Registry.
Patterson MC, Mengel E, Vanier MT, Moneuse P, Rosenberg D, Pineda M
Orphanet J Rare Dis 2020 Apr 25;15(1):104. doi: 10.1186/s13023-020-01363-2. PMID: 32334605Free PMC Article
Efficacy of miglustat in Niemann-Pick C disease: a single centre experience.
Ginocchio VM, D'Amico A, Bertini E, Ceravolo F, Dardis A, Verrigni D, Bembi B, Dionisi-Vici C, Deodato F
Mol Genet Metab 2013 Nov;110(3):329-35. Epub 2013 Aug 7 doi: 10.1016/j.ymgme.2013.07.019. PMID: 23973268
Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update.
Patterson MC, Hendriksz CJ, Walterfang M, Sedel F, Vanier MT, Wijburg F; NP-C Guidelines Working Group
Mol Genet Metab 2012 Jul;106(3):330-44. Epub 2012 May 8 doi: 10.1016/j.ymgme.2012.03.012. PMID: 22572546

Diagnosis

Niemann-Pick Disease, Type C: Diagnosis, Management and Disease-Targeted Therapies in Development.
Berry-Kravis E
Semin Pediatr Neurol 2021 Apr;37:100879. Epub 2021 Feb 12 doi: 10.1016/j.spen.2021.100879. PMID: 33892845
Niemann-Pick type C: focus on the adolescent/adult onset form.
Di Lazzaro V, Marano M, Florio L, De Santis S
Int J Neurosci 2016 Nov;126(11):963-71. Epub 2016 Mar 29 doi: 10.3109/00207454.2016.1161623. PMID: 26998855
Cataplexy and sleep disorders in Niemann-Pick type C disease.
Nevsimalova S, Malinova V
Curr Neurol Neurosci Rep 2015 Jan;15(1):522. doi: 10.1007/s11910-014-0522-0. PMID: 25434476
Niemann-Pick disease type C symptomatology: an expert-based clinical description.
Mengel E, Klünemann HH, Lourenço CM, Hendriksz CJ, Sedel F, Walterfang M, Kolb SA
Orphanet J Rare Dis 2013 Oct 17;8:166. doi: 10.1186/1750-1172-8-166. PMID: 24135395Free PMC Article
Niemann-Pick disease type C.
Vanier MT
Orphanet J Rare Dis 2010 Jun 3;5:16. doi: 10.1186/1750-1172-5-16. PMID: 20525256Free PMC Article

Therapy

Cost-effectiveness of miglustat versus symptomatic therapy of Niemann-Pick disease type C.
Gutić M, Milosavljević MN, Janković SM
Int J Clin Pharm 2022 Dec;44(6):1442-1453. Epub 2022 Oct 15 doi: 10.1007/s11096-022-01491-8. PMID: 36243834
Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR).
Bolton SC, Soran V, Marfa MP, Imrie J, Gissen P, Jahnova H, Sharma R, Jones S, Santra S, Crushell E, Stampfer M, Coll MJ, Dawson C, Mathieson T, Green J, Dardis A, Bembi B, Patterson MC, Vanier MT, Geberhiwot T
Orphanet J Rare Dis 2022 Feb 14;17(1):51. doi: 10.1186/s13023-022-02200-4. PMID: 35164809Free PMC Article
Early detection of Niemann-pick disease type C with cataplexy and orexin levels: continuous observation with and without Miglustat.
Imanishi A, Kawazoe T, Hamada Y, Kumagai T, Tsutsui K, Sakai N, Eto K, Noguchi A, Shimizu T, Takahashi T, Han G, Mishima K, Kanbayashi T, Kondo H
Orphanet J Rare Dis 2020 Sep 29;15(1):269. doi: 10.1186/s13023-020-01531-4. PMID: 32993765Free PMC Article
Treatment outcomes following continuous miglustat therapy in patients with Niemann-Pick disease Type C: a final report of the NPC Registry.
Patterson MC, Mengel E, Vanier MT, Moneuse P, Rosenberg D, Pineda M
Orphanet J Rare Dis 2020 Apr 25;15(1):104. doi: 10.1186/s13023-020-01363-2. PMID: 32334605Free PMC Article
Niemann-Pick disease type C.
Vanier MT
Orphanet J Rare Dis 2010 Jun 3;5:16. doi: 10.1186/1750-1172-5-16. PMID: 20525256Free PMC Article

Prognosis

Cost-effectiveness of miglustat versus symptomatic therapy of Niemann-Pick disease type C.
Gutić M, Milosavljević MN, Janković SM
Int J Clin Pharm 2022 Dec;44(6):1442-1453. Epub 2022 Oct 15 doi: 10.1007/s11096-022-01491-8. PMID: 36243834
Niemann-Pick type C: focus on the adolescent/adult onset form.
Di Lazzaro V, Marano M, Florio L, De Santis S
Int J Neurosci 2016 Nov;126(11):963-71. Epub 2016 Mar 29 doi: 10.3109/00207454.2016.1161623. PMID: 26998855
Niemann-Pick disease type C symptomatology: an expert-based clinical description.
Mengel E, Klünemann HH, Lourenço CM, Hendriksz CJ, Sedel F, Walterfang M, Kolb SA
Orphanet J Rare Dis 2013 Oct 17;8:166. doi: 10.1186/1750-1172-8-166. PMID: 24135395Free PMC Article
Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update.
Patterson MC, Hendriksz CJ, Walterfang M, Sedel F, Vanier MT, Wijburg F; NP-C Guidelines Working Group
Mol Genet Metab 2012 Jul;106(3):330-44. Epub 2012 May 8 doi: 10.1016/j.ymgme.2012.03.012. PMID: 22572546
Niemann-Pick disease type C.
Vanier MT
Orphanet J Rare Dis 2010 Jun 3;5:16. doi: 10.1186/1750-1172-5-16. PMID: 20525256Free PMC Article

Clinical prediction guides

Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR).
Bolton SC, Soran V, Marfa MP, Imrie J, Gissen P, Jahnova H, Sharma R, Jones S, Santra S, Crushell E, Stampfer M, Coll MJ, Dawson C, Mathieson T, Green J, Dardis A, Bembi B, Patterson MC, Vanier MT, Geberhiwot T
Orphanet J Rare Dis 2022 Feb 14;17(1):51. doi: 10.1186/s13023-022-02200-4. PMID: 35164809Free PMC Article
Treatment outcomes following continuous miglustat therapy in patients with Niemann-Pick disease Type C: a final report of the NPC Registry.
Patterson MC, Mengel E, Vanier MT, Moneuse P, Rosenberg D, Pineda M
Orphanet J Rare Dis 2020 Apr 25;15(1):104. doi: 10.1186/s13023-020-01363-2. PMID: 32334605Free PMC Article
Cataplexy and sleep disorders in Niemann-Pick type C disease.
Nevsimalova S, Malinova V
Curr Neurol Neurosci Rep 2015 Jan;15(1):522. doi: 10.1007/s11910-014-0522-0. PMID: 25434476
Niemann-Pick disease type C.
Vanier MT
Orphanet J Rare Dis 2010 Jun 3;5:16. doi: 10.1186/1750-1172-5-16. PMID: 20525256Free PMC Article
Lipid changes in Niemann-Pick disease type C brain: personal experience and review of the literature.
Vanier MT
Neurochem Res 1999 Apr;24(4):481-9. doi: 10.1023/a:1022575511354. PMID: 10227680

Recent systematic reviews

Neuropsychiatric decompensation in adolescents and adults with Phelan-McDermid syndrome: a systematic review of the literature.
Kolevzon A, Delaby E, Berry-Kravis E, Buxbaum JD, Betancur C
Mol Autism 2019;10:50. Epub 2019 Dec 24 doi: 10.1186/s13229-019-0291-3. PMID: 31879555Free PMC Article

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