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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).
 
Monarch Initiative: MONDO:0016309
Orphanet: ORPHA216981

Professional guidelines

PubMed

Berry-Kravis E
Semin Pediatr Neurol 2021 Apr;37:100879. Epub 2021 Feb 12 doi: 10.1016/j.spen.2021.100879. PMID: 33892845
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
Pérez-Poyato MS, Pineda M
Curr Pharm Biotechnol 2011 Jun;12(6):897-901. doi: 10.2174/138920111795542697. PMID: 21235443

Recent clinical studies

Etiology

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
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
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
Patterson MC, Mengel E, Wijburg FA, Muller A, Schwierin B, Drevon H, Vanier MT, Pineda M
Orphanet J Rare Dis 2013 Jan 16;8:12. doi: 10.1186/1750-1172-8-12. PMID: 23324478Free PMC Article
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

Berry-Kravis E
Semin Pediatr Neurol 2021 Apr;37:100879. Epub 2021 Feb 12 doi: 10.1016/j.spen.2021.100879. PMID: 33892845
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
Nevsimalova S, Malinova V
Curr Neurol Neurosci Rep 2015 Jan;15(1):522. doi: 10.1007/s11910-014-0522-0. PMID: 25434476
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
Vanier MT
Orphanet J Rare Dis 2010 Jun 3;5:16. doi: 10.1186/1750-1172-5-16. PMID: 20525256Free PMC Article

Therapy

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
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
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
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
Vanier MT
Orphanet J Rare Dis 2010 Jun 3;5:16. doi: 10.1186/1750-1172-5-16. PMID: 20525256Free PMC Article

Prognosis

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
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
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
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
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

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
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
Nevsimalova S, Malinova V
Curr Neurol Neurosci Rep 2015 Jan;15(1):522. doi: 10.1007/s11910-014-0522-0. PMID: 25434476
Vanier MT
Orphanet J Rare Dis 2010 Jun 3;5:16. doi: 10.1186/1750-1172-5-16. PMID: 20525256Free PMC Article
Vanier MT
Neurochem Res 1999 Apr;24(4):481-9. doi: 10.1023/a:1022575511354. PMID: 10227680

Recent systematic reviews

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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