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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
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

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
Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study.
Freihuber C, Dahmani-Rabehi B, Brassier A, Broué P, Cances C, Chabrol B, Eyer D, Labarthe F, Latour P, Levade T, Pichard S, Sevin C, Vanier MT, Héron B
Orphanet J Rare Dis 2023 Jul 21;18(1):204. doi: 10.1186/s13023-023-02804-4. PMID: 37480097Free 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
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
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
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.
Vanier MT
Orphanet J Rare Dis 2010 Jun 3;5:16. doi: 10.1186/1750-1172-5-16. PMID: 20525256Free PMC Article
Niemann-Pick disease type C. From bench to bedside.
Schiffmann R
JAMA 1996 Aug 21;276(7):561-4. PMID: 8709406

Therapy

Sterol O-Acyltransferase 1 (SOAT1): A Genetic Modifier of Niemann-Pick Disease, Type C1.
Farhat NY, Alexander D, McKee K, Iben J, Rodriguez-Gil JL, Wassif CA, Cawley NX, Balch WE, Porter FD
Int J Mol Sci 2024 Apr 11;25(8) doi: 10.3390/ijms25084217. PMID: 38673803Free PMC Article
Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: a national French retrospective study.
Freihuber C, Dahmani-Rabehi B, Brassier A, Broué P, Cances C, Chabrol B, Eyer D, Labarthe F, Latour P, Levade T, Pichard S, Sevin C, Vanier MT, Héron B
Orphanet J Rare Dis 2023 Jul 21;18(1):204. doi: 10.1186/s13023-023-02804-4. PMID: 37480097Free 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
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

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
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

Sterol O-Acyltransferase 1 (SOAT1): A Genetic Modifier of Niemann-Pick Disease, Type C1.
Farhat NY, Alexander D, McKee K, Iben J, Rodriguez-Gil JL, Wassif CA, Cawley NX, Balch WE, Porter FD
Int J Mol Sci 2024 Apr 11;25(8) doi: 10.3390/ijms25084217. PMID: 38673803Free 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
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
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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