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Niemann-Pick disease, type C1, adult form

MedGen UID:
865542
•Concept ID:
C4017105
•
Finding
Synonym: NIEMANN-PICK DISEASE, TYPE C1, ADULT FORM
 
OMIM®: 607623

Professional guidelines

PubMed

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
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

Recent clinical studies

Etiology

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
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
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
Mutations in Niemann Pick type C gene are risk factor for Alzheimer's disease.
Kresojević N, Dobričić V, Svetel M, Kostić V
Med Hypotheses 2014 Nov;83(5):559-62. Epub 2014 Sep 6 doi: 10.1016/j.mehy.2014.08.025. PMID: 25220527
Molecular analysis of 30 Niemann-Pick type C patients from Spain.
Macías-Vidal J, Rodríguez-Pascau L, Sánchez-Ollé G, Lluch M, Vilageliu L, Grinberg D, Coll MJ; Spanish NPC Working Group
Clin Genet 2011 Jul;80(1):39-49. Epub 2010 Jul 6 doi: 10.1111/j.1399-0004.2010.01504.x. PMID: 20718790

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
Estimated prevalence of Niemann-Pick type C disease in Quebec.
Labrecque M, Touma L, Bhérer C, Duquette A, Tétreault M
Sci Rep 2021 Nov 19;11(1):22621. doi: 10.1038/s41598-021-01966-0. PMID: 34799641Free 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
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

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
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
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
Long-term therapy with miglustat and cognitive decline in the adult form of Niemann-Pick disease type C: a case report.
Tozza S, Dubbioso R, Iodice R, Topa A, Esposito M, Ruggiero L, Spina E, De Rosa A, Saccà F, Santoro L, Manganelli F
Neurol Sci 2018 Jun;39(6):1015-1019. Epub 2018 Mar 13 doi: 10.1007/s10072-018-3314-5. PMID: 29536386
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

Therapeutic Potential of αS Evolvability for Neuropathic Gaucher Disease.
Wei J, Takamatsu Y, Wada R, Fujita M, Ho G, Masliah E, Hashimoto M
Biomolecules 2021 Feb 15;11(2) doi: 10.3390/biom11020289. PMID: 33672048Free 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
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
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

Clinical prediction guides

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
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
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
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

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