U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Niemann-Pick disease, type C1, juvenile form

MedGen UID:
865543
•Concept ID:
C4017106
•
Finding
Synonym: NIEMANN-PICK DISEASE, TYPE C1, JUVENILE FORM
 
OMIM®: 607623

Professional guidelines

PubMed

Diagnosis of Niemann-Pick disease type C with 7-ketocholesterol screening followed by NPC1/NPC2 gene mutation confirmation in Chinese patients.
Zhang H, Wang Y, Lin N, Yang R, Qiu W, Han L, Ye J, Gu X
Orphanet J Rare Dis 2014 Jun 10;9:82. doi: 10.1186/1750-1172-9-82. PMID: 24915861Free PMC Article
Complete recovery from psychosis upon miglustat treatment in a juvenile Niemann-Pick C patient.
Szakszon K, Szegedi I, Magyar A, Oláh E, Andrejkovics M, Balla P, Lengyel A, Berényi E, Balogh I
Eur J Paediatr Neurol 2014 Jan;18(1):75-8. Epub 2013 Oct 1 doi: 10.1016/j.ejpn.2013.08.002. PMID: 24119781
Genotype/phenotype of 6 Chinese cases with Niemann-Pick disease type C.
Xiong H, Higaki K, Wei CJ, Bao XH, Zhang YH, Fu N, Qin J, Adachi K, Kumura Y, Ninomiya H, Nanba E, Wu XR
Gene 2012 May 1;498(2):332-5. Epub 2012 Feb 4 doi: 10.1016/j.gene.2012.01.026. PMID: 22326530

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
Evaluation of different suspicion indices in identifying patients with Niemann-Pick disease Type C in clinical practice: a post hoc analysis of a retrospective chart review.
Pineda M, Juríčková K, Karimzadeh P, Kolniková M, Malinová V, Torres J, Kolb SA
Orphanet J Rare Dis 2019 Jul 2;14(1):161. doi: 10.1186/s13023-019-1124-3. PMID: 31266511Free PMC Article
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
Observational cohort study of the natural history of Niemann-Pick disease type C in the UK: a 5-year update from the UK clinical database.
Imrie J, Heptinstall L, Knight S, Strong K
BMC Neurol 2015 Dec 15;15:257. doi: 10.1186/s12883-015-0511-1. PMID: 26666848Free PMC Article
Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: a surprisingly stable diagnostic rate spanning almost 40 years.
Jahnova H, Dvorakova L, Vlaskova H, Hulkova H, Poupetova H, Hrebicek M, Jesina P
Orphanet J Rare Dis 2014 Sep 19;9:140. doi: 10.1186/s13023-014-0140-6. PMID: 25236789Free PMC Article

Diagnosis

At a glance: the largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years.
Guatibonza Moreno P, Pardo LM, Pereira C, Schroeder S, Vagiri D, Almeida LS, Juaristi C, Hosny H, Loh CCY, Leubauer A, Torres Morales G, Oppermann S, Iurașcu MI, Fischer S, Steinicke TM, Viceconte N, Cozma C, Kandaswamy KK, Pinto Basto J, Böttcher T, Bauer P, Bertoli-Avella A
Eur J Hum Genet 2023 Oct;31(10):1108-1116. Epub 2023 Jul 11 doi: 10.1038/s41431-023-01408-7. PMID: 37433892Free PMC Article
Genetic and phenotypic variability in adult patients with Niemann Pick type C from Serbia: single-center experience.
Kresojević N, Dobričić V, Lukić MJ, Tomić A, Petrović I, Dragašević N, Perović I, Marjanović A, Branković M, Janković M, Novaković I, Svetel M, Kostić VS
J Neurol 2022 Jun;269(6):3167-3174. Epub 2022 Jan 7 doi: 10.1007/s00415-021-10918-7. PMID: 34993563
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.
Vanier MT
Orphanet J Rare Dis 2010 Jun 3;5:16. doi: 10.1186/1750-1172-5-16. PMID: 20525256Free PMC Article

Therapy

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
Diagnosis of Niemann-Pick disease type C with 7-ketocholesterol screening followed by NPC1/NPC2 gene mutation confirmation in Chinese patients.
Zhang H, Wang Y, Lin N, Yang R, Qiu W, Han L, Ye J, Gu X
Orphanet J Rare Dis 2014 Jun 10;9:82. doi: 10.1186/1750-1172-9-82. PMID: 24915861Free PMC Article
Complete recovery from psychosis upon miglustat treatment in a juvenile Niemann-Pick C patient.
Szakszon K, Szegedi I, Magyar A, Oláh E, Andrejkovics M, Balla P, Lengyel A, Berényi E, Balogh I
Eur J Paediatr Neurol 2014 Jan;18(1):75-8. Epub 2013 Oct 1 doi: 10.1016/j.ejpn.2013.08.002. PMID: 24119781
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

Prognosis

Evaluation of different suspicion indices in identifying patients with Niemann-Pick disease Type C in clinical practice: a post hoc analysis of a retrospective chart review.
Pineda M, Juríčková K, Karimzadeh P, Kolniková M, Malinová V, Torres J, Kolb SA
Orphanet J Rare Dis 2019 Jul 2;14(1):161. doi: 10.1186/s13023-019-1124-3. PMID: 31266511Free 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
Observational cohort study of the natural history of Niemann-Pick disease type C in the UK: a 5-year update from the UK clinical database.
Imrie J, Heptinstall L, Knight S, Strong K
BMC Neurol 2015 Dec 15;15:257. doi: 10.1186/s12883-015-0511-1. PMID: 26666848Free PMC Article
Electrophysiological characterization of adult-onset Niemann-Pick type C disease.
Iodice R, Dubbioso R, Topa A, Ruggiero L, Pisciotta C, Esposito M, Tozza S, Santoro L, Manganelli F
J Neurol Sci 2015 Jan 15;348(1-2):262-5. Epub 2014 Dec 16 doi: 10.1016/j.jns.2014.12.005. PMID: 25537619
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
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
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
Diagnosis of Niemann-Pick disease type C with 7-ketocholesterol screening followed by NPC1/NPC2 gene mutation confirmation in Chinese patients.
Zhang H, Wang Y, Lin N, Yang R, Qiu W, Han L, Ye J, Gu X
Orphanet J Rare Dis 2014 Jun 10;9:82. doi: 10.1186/1750-1172-9-82. PMID: 24915861Free 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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...