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Niemann-Pick disease type C, adult neurologic onset

MedGen UID:
1826101
•Concept ID:
C5680869
•
Disease or Syndrome
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:0016310
Orphanet: ORPHA216986

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
Consensus clinical management guidelines for Niemann-Pick disease type C.
Geberhiwot T, Moro A, Dardis A, Ramaswami U, Sirrs S, Marfa MP, Vanier MT, Walterfang M, Bolton S, Dawson C, Héron B, Stampfer M, Imrie J, Hendriksz C, Gissen P, Crushell E, Coll MJ, Nadjar Y, Klünemann H, Mengel E, Hrebicek M, Jones SA, Ory D, Bembi B, Patterson M; International Niemann-Pick Disease Registry (INPDR)
Orphanet J Rare Dis 2018 Apr 6;13(1):50. doi: 10.1186/s13023-018-0785-7. PMID: 29625568Free PMC Article
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

Swallowing characterization of adult-onset Niemann-Pick, type C1 patients.
Solomon BI, Muñoz AM, Sinaii N, Mohamed H, Farhat NM, Alexander D, Do AD, Porter FD
Orphanet J Rare Dis 2024 Jun 11;19(1):231. doi: 10.1186/s13023-024-03241-7. PMID: 38863022Free PMC Article
Miglustat in Niemann-Pick disease type C patients: a review.
Pineda M, Walterfang M, Patterson MC
Orphanet J Rare Dis 2018 Aug 15;13(1):140. doi: 10.1186/s13023-018-0844-0. PMID: 30111334Free PMC Article
Oculomotor abnormalities in children with Niemann-Pick type C.
Blundell J, Frisson S, Chakrapani A, Gissen P, Hendriksz C, Vijay S, Olson A
Mol Genet Metab 2018 Feb;123(2):159-168. Epub 2017 Nov 16 doi: 10.1016/j.ymgme.2017.11.004. PMID: 29191430
Clinical Spectrum and Genetic Variability in Bulgarian Patients with Niemann-Pick Disease Type C.
Chamova T, Kirov A, Guergueltcheva V, Todorov T, Bojinova V, Zhelyazkova S, Samuel J, Radionova M, Sarafov S, Cherninkova S, Krastev S, Todorova A, Tournev I
Eur Neurol 2016;75(3-4):113-23. Epub 2016 Feb 25 doi: 10.1159/000444480. PMID: 26910362
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
Movement Disorders in Treatable Inborn Errors of Metabolism.
Ebrahimi-Fakhari D, Van Karnebeek C, Münchau A
Mov Disord 2019 May;34(5):598-613. Epub 2018 Dec 17 doi: 10.1002/mds.27568. PMID: 30557456
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.
Vanier MT
Orphanet J Rare Dis 2010 Jun 3;5:16. doi: 10.1186/1750-1172-5-16. PMID: 20525256Free PMC Article
The adult form of Niemann-Pick disease type C.
Sévin M, Lesca G, Baumann N, Millat G, Lyon-Caen O, Vanier MT, Sedel F
Brain 2007 Jan;130(Pt 1):120-33. Epub 2006 Sep 26 doi: 10.1093/brain/awl260. PMID: 17003072

Therapy

Efficacy and safety clinical trial with efavirenz in patients diagnosed with adult Niemann-pick type C with cognitive impairment.
Gascón-Bayarri J, Simon PC, Llop R, Carnaval T, Ledesma MD, Rico I, Sánchez-Castañeda C, Campdelacreu-Fumadó J, Calvo-Malvar N, Cos M, de Lama E, Cortés-Romera M, Rodríguez-Bel L, Pérez-Sousa C, Cerdán Sánchez M, Muelas N, Sevillano MD, Mir P, López de Munain A, Ferrer A, Videla S
Medicine (Baltimore) 2022 Dec 2;101(48):e31471. doi: 10.1097/MD.0000000000031471. PMID: 36482560Free PMC Article
Estimating the prevalence of Niemann-Pick disease type C (NPC) in the United States.
Burton BK, Ellis AG, Orr B, Chatlani S, Yoon K, Shoaff JR, Gallo D
Mol Genet Metab 2021 Sep-Oct;134(1-2):182-187. Epub 2021 Jul 1 doi: 10.1016/j.ymgme.2021.06.011. PMID: 34304992
Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect.
Nadjar Y, Hütter-Moncada AL, Latour P, Ayrignac X, Kaphan E, Tranchant C, Cintas P, Degardin A, Goizet C, Laurencin C, Martzolff L, Tilikete C, Anheim M, Audoin B, Deramecourt V, De Gaillarbois TD, Roze E, Lamari F, Vanier MT, Héron B
Orphanet J Rare Dis 2018 Oct 1;13(1):175. doi: 10.1186/s13023-018-0913-4. PMID: 30285904Free PMC Article
Miglustat in Niemann-Pick disease type C patients: a review.
Pineda M, Walterfang M, Patterson MC
Orphanet J Rare Dis 2018 Aug 15;13(1):140. doi: 10.1186/s13023-018-0844-0. PMID: 30111334Free 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

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
Consensus clinical management guidelines for Niemann-Pick disease type C.
Geberhiwot T, Moro A, Dardis A, Ramaswami U, Sirrs S, Marfa MP, Vanier MT, Walterfang M, Bolton S, Dawson C, Héron B, Stampfer M, Imrie J, Hendriksz C, Gissen P, Crushell E, Coll MJ, Nadjar Y, Klünemann H, Mengel E, Hrebicek M, Jones SA, Ory D, Bembi B, Patterson M; International Niemann-Pick Disease Registry (INPDR)
Orphanet J Rare Dis 2018 Apr 6;13(1):50. doi: 10.1186/s13023-018-0785-7. PMID: 29625568Free PMC Article
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
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

Miglustat in Niemann-Pick disease type C patients: a review.
Pineda M, Walterfang M, Patterson MC
Orphanet J Rare Dis 2018 Aug 15;13(1):140. doi: 10.1186/s13023-018-0844-0. PMID: 30111334Free PMC Article
Consensus clinical management guidelines for Niemann-Pick disease type C.
Geberhiwot T, Moro A, Dardis A, Ramaswami U, Sirrs S, Marfa MP, Vanier MT, Walterfang M, Bolton S, Dawson C, Héron B, Stampfer M, Imrie J, Hendriksz C, Gissen P, Crushell E, Coll MJ, Nadjar Y, Klünemann H, Mengel E, Hrebicek M, Jones SA, Ory D, Bembi B, Patterson M; International Niemann-Pick Disease Registry (INPDR)
Orphanet J Rare Dis 2018 Apr 6;13(1):50. doi: 10.1186/s13023-018-0785-7. PMID: 29625568Free 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
Initiation and discontinuation of substrate inhibitor treatment in patients with Niemann-Pick type C disease.
Pérez-Poyato MS, Gordo MM, Marfa MP
Gene 2012 Sep 10;506(1):207-10. Epub 2012 Jun 28 doi: 10.1016/j.gene.2012.06.054. PMID: 22750297
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

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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