Research & Literature

Laboratory diagnosis of Niemann-Pick disease type C: the filipin staining test.

Vanier MT, Latour P

Methods in cell biology 2015; (126()):357-75.

[Research advances in diagnosis and therapy of Niemann-Pick disease type C].

Ren SC, Gao BQ

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2015; (17(5)):533-8.

A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease.

Giese AK, Mascher H, Grittner U, et al.

Orphanet journal of rare diseases 2015; (10()):78 doi:10.1186/s13023-015-0274-1.

[Psychiatric disorders in adult form of Niemann-Pick disease type C].

Maubert A, Hanon C, Sedel F

L'Encephale 2016; (42(3)):208-13.

Comprehensive Evaluation of Plasma 7-Ketocholesterol and Cholestan-3β,5α,6β-Triol in an Italian Cohort of Patients Affected by Niemann-Pick Disease due to NPC1 and SMPD1 Mutations.

Romanello M, Zampieri S, Bortolotti N, et al.

Clinica chimica acta; international journal of clinical chemistry 2016; (455()):39-45.

A rare case of Niemann-Pick disease type C without neurological involvement in a 66-year-old patient.

Greenberg CR, Barnes JG, Kogan S, Seargeant LE

Molecular genetics and metabolism reports 2015; (3()):18-20 doi:10.1016/j.ymgmr.2015.02.004.

Towards a New Diagnostic Standard for Niemann-Pick C Disease.

Jiang X, Ory DS

EBioMedicine 2016; (4()):18-9 doi:10.1016/j.ebiom.2016.01.004.

Niemann-Pick type C: focus on the adolescent/adult onset form.

Di Lazzaro V, Marano M, Florio L, De Santis S

The International journal of neuroscience 2016; (126(11)):963-71 doi:10.3109/00207454.2016.1161623.

Identification of novel bile acids as biomarkers for the early diagnosis of Niemann-Pick C disease.

Mazzacuva F, Mills P, Mills K, et al.

FEBS letters 2016; (590(11)):1651-62 doi:10.1002/1873-3468.12196.

A case of variant biochemical phenotype of Niemann-Pick disease type C accompanying savant syndrome.

Hamatani M, Jingami N, Uemura K, et al.

Rinsho shinkeigaku = Clinical neurology 2016; (56(6)):424-9 doi:10.5692/clinicalneurol.cn-000846.

A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C).

Pineda M, Mengel E, Jahnová H, et al.

BMC pediatrics 2016; (16()):107 doi:10.1186/s12887-016-0641-7.

Clues to the mechanism of cholesterol transfer from the structure of NPC1 middle lumenal domain bound to NPC2.

Li X, Saha P, Li J, et al.

Proceedings of the National Academy of Sciences of the United States of America 2016; (113(36)):10079-84 doi:10.1073/pnas.1611956113.

Facial Dystonia with Facial Grimacing and Vertical Gaze Palsy with "Round the Houses" Sign in a 29-Year-Old Woman.

Crespi J, Bråthen G, Quist-Paulsen P, et al.

Neuro-ophthalmology (Aeolus Press) 2016; (40(1)):31-34 doi:10.3109/01658107.2015.1105824.

The Spectrum of Niemann-Pick Type C Disease in Greece.

Mavridou I, Dimitriou E, Vanier MT, et al.

JIMD reports 2017; (36()):41-48 doi:10.1007/8904_2016_41.

The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease.

Hendriksz CJ, Anheim M, Bauer P, et al.

Current medical research and opinion 2017; (33(5)):877-890 doi:10.1080/03007995.2017.1294054.

Patient with Niemann-Pick disease type C: over 20 years' follow-up.

Abe K, Sakai N

BMJ case reports 2017; (2017()) doi:10.1136/bcr-2017-220134.

Case Report: Ursodeoxycholic acid treatment in Niemann-Pick disease type C; clinical experience in four cases.

Evans WRH, Nicoli ER, Wang RY, et al.

Wellcome open research 2017; (2()):75 doi:10.12688/wellcomeopenres.11854.1.

Molecular and biochemical biomarkers for diagnosis and therapy monitorization of Niemann-Pick type C patients.

Hammerschmidt TG, de Oliveira Schmitt Ribas G, Saraiva-Pereira ML, et al.

International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience 2018; (66()):18-23 doi:10.1016/j.ijdevneu.2017.11.007.

[Niemann-Pick type C disease in a child].

Novikova ES, Kotov AS, Kotalevskaya YY, et al.

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova 2017; (117(11. Vyp. 2)):62-66 doi:10.17116/jnevro201711711262-66.

Consensus clinical management guidelines for Niemann-Pick disease type C.

Geberhiwot T, Moro A, Dardis A, et al.

Orphanet journal of rare diseases 2018; (13(1)):50 doi:10.1186/s13023-018-0785-7.

Abnormal Vertical Eye Movements as a Clue for Diagnosis of Niemann-Pick Type C.

Gupta DK, Blanco-Palmero VA, Chung WK, Kuo SH

Tremor and other hyperkinetic movements (New York, N.Y.) 2018; (8()):560 doi:10.7916/D8XS7BGD.

Miglustat in Niemann-Pick disease type C patients: a review.

Pineda M, Walterfang M, Patterson MC

Orphanet journal of rare diseases 2018; (13(1)):140 doi:10.1186/s13023-018-0844-0.

Psychiatric and Cognitive Symptoms Associated with Niemann-Pick Type C Disease: Neurobiology and Management.

Rego T, Farrand S, Goh AMY, et al.

CNS drugs 2019; (33(2)):125-142 doi:10.1007/s40263-018-0599-0.

Clinical, biomarker and genetic spectrum of Niemann-Pick type C in Egypt: The detection of nine novel NPC1 mutations.

Mahmoud IG, Elmonem MA, Elkhateeb NM, et al.

Clinical genetics 2019; (95(4)):537-539 doi:10.1111/cge.13492.

Diagnostic performance evaluation of sulfate-conjugated cholesterol metabolites as urinary biomarkers of Niemann-Pick disease type C.

Maekawa M, Narita A, Jinnoh I, et al.

Clinica chimica acta; international journal of clinical chemistry 2019; (494()):58-63 doi:10.1016/j.cca.2019.03.1610.

Insights into the Molecular Mechanisms of Cholesterol Binding to the NPC1 and NPC2 Proteins.

Cologna SM, Rosenhouse-Dantsker A

Advances in experimental medicine and biology 2019; (1135()):139-160 doi:10.1007/978-3-030-14265-0_8.

Laboratory diagnosis of the Niemann-Pick type C disease: an inherited neurodegenerative disorder of cholesterol metabolism.

Sitarska D, Ługowska A

Metabolic brain disease 2019; (34(5)):1253-1260 doi:10.1007/s11011-019-00445-w.

NPC1 regulates ER contacts with endocytic organelles to mediate cholesterol egress.

Höglinger D, Burgoyne T, Sanchez-Heras E, et al.

Nature communications 2019; (10(1)):4276 doi:10.1038/s41467-019-12152-2.

Structural Insight into Eukaryotic Sterol Transport through Niemann-Pick Type C Proteins.

Winkler MBL, Kidmose RT, Szomek M, et al.

Cell 2019; (179(2)):485-497.e18 doi:10.1016/j.cell.2019.08.038.

Niemann-Pick Disease Type C Misdiagnosed as Cerebral Palsy: A Case Report.

Ko EJ, Sung IY, Yoo HW

Annals of rehabilitation medicine 2019; (43(5)):621-624 doi:10.5535/arm.2019.43.5.621.

Very Late-Onset Niemann Pick Type C Disease: Example of Progressive Supranuclear Palsy Look-Alike Disorder.

Kresojević N, Mandić-Stojmenović G, Dobričić V, et al.

Movement disorders clinical practice 2020; (7(2)):211-214 doi:10.1002/mdc3.12892.

Long-term survival outcomes of patients with Niemann-Pick disease type C receiving miglustat treatment: A large retrospective observational study.

Patterson MC, Garver WS, Giugliani R, et al.

Journal of inherited metabolic disease 2020; (43(5)):1060-1069 doi:10.1002/jimd.12245.

Two Patients with Niemann Pick Disease Type C Diagnosed in the Seventh Decade of Life.

Wu M, Ceponiene R, Bayram E, Litvan I

Movement disorders clinical practice 2020; (7(8)):961-964 doi:10.1002/mdc3.13085.

Effects of Different Continuous Aerobic Training Protocols in a Heterozygous Mouse Model of Niemann-Pick Type C Disease.

Cariati I, Scimeca M, Tancredi V, et al.

Journal of functional morphology and kinesiology 2020; (5(3)) doi:10.3390/jfmk5030053.

Validation of the 5-domain Niemann-Pick type C Clinical Severity Scale.

Patterson MC, Lloyd-Price L, Guldberg C, et al.

Orphanet journal of rare diseases 2021; (16(1)):79 doi:10.1186/s13023-021-01719-2.

Niemann-Pick Disease, Type C: Diagnosis, Management and Disease-Targeted Therapies in Development.

Berry-Kravis E

Seminars in pediatric neurology 2021; (37()):100879 doi:10.1016/j.spen.2021.100879.

Vertical saccadic palsy and foveal retinal thinning in Niemann-Pick disease type C.

Hopf S, Hennermann JB, Schuster AK, et al.

PloS one 2021; (16(6)):e0252825 doi:10.1371/journal.pone.0252825.

A cross-sectional, prospective ocular motor study in 72 patients with Niemann-Pick disease type C.

Bremova-Ertl T, Abel L, Walterfang M, et al.

European journal of neurology 2021; (28(9)):3040-3050 doi:10.1111/ene.14955.

A phase 1/2 open label nonrandomized clinical trial of intravenous 2-hydroxypropyl-β-cyclodextrin for acute liver disease in infants with Niemann-Pick C1.

Reynolds M, Linneman LA, Luna S, et al.

Molecular genetics and metabolism reports 2021; (28()):100772 doi:10.1016/j.ymgmr.2021.100772.

Efficacy and safety of arimoclomol in Niemann-Pick disease type C: Results from a double-blind, randomised, placebo-controlled, multinational phase 2/3 trial of a novel treatment.

Mengel E, Patterson MC, Da Riol RM, et al.

Journal of inherited metabolic disease 2021; (44(6)):1463-1480 doi:10.1002/jimd.12428.

Normal long-term neurologic and graft outcome after liver transplantation in an infant with Neimann-Pick type C disease.

Lemoine CP, Superina R, Mohammad S

American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons 2022; (22(2)):646-648 doi:10.1111/ajt.16819.

Spectrum of Movement Disorders of Late-Onset Niemann-Pick Disease Type C.

Parihar J, Dash D, Aggarwal B, et al.

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 2022; (49(6)):804-808 doi:10.1017/cjn.2021.222.

Niemann-Pick disease type C in Palestine: genotype and phenotype of sixteen patients and report of a novel mutation in the NPC1 gene.

Dweikat I, Thaher O, Abosleem A, et al.

BMC medical genomics 2021; (14(1)):228 doi:10.1186/s12920-021-01072-0.

Impacts and Burden of Niemann pick Type-C: a patient and caregiver perspective.

Mengel E, Patterson MC, Chladek M, et al.

Orphanet journal of rare diseases 2021; (16(1)):493 doi:10.1186/s13023-021-02105-8.

Consistently High Agreement Between Independent Raters of Niemann-Pick Type C1 Clinical Severity Scale in Phase 2/3 Trial.

Farhat N, Bailey L, Friedmann K, et al.

Pediatric neurology 2022; (127()):32-38 doi:10.1016/j.pediatrneurol.2021.11.009.

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, et al.

Orphanet journal of rare diseases 2022; (17(1)):51 doi:10.1186/s13023-022-02200-4.

A Niemann-Pick Disease Type C2 with Severe Pulmonary Involvement and Limited Therapeutic Options: A Case Report.

Al-Shamrani A, Al-Shamrani K, Mahfoudh AB, et al.

Children (Basel, Switzerland) 2022; (9(12)) doi:10.3390/children9121811.

Safety and efficacy of arimoclomol for inclusion body myositis: a multicentre, randomised, double-blind, placebo-controlled trial.

Machado PM, McDermott MP, Blaettler T, et al.

The Lancet. Neurology 2023; (22(10)):900-911 doi:10.1016/S1474-4422(23)00275-2.

Trial of N-Acetyl-l-Leucine in Niemann-Pick Disease Type C.

Bremova-Ertl T, Ramaswami U, Brands M, et al.

The New England journal of medicine 2024; (390(5)):421-431 doi:10.1056/NEJMoa2310151.

ORMDL mislocalization by impaired autophagy in Niemann-Pick type C disease leads to increased de novo sphingolipid biosynthesis.

Brown RDR, Mahawar U, Wattenberg BW, Spiegel S

Journal of lipid research 2024; (65(6)):100556 doi:10.1016/j.jlr.2024.100556.

Arimoclomol: First Approval.

Keam SJ

Drugs 2025; (85(1)):111-116 doi:10.1007/s40265-024-02129-x.

Mechanistic insights into arimoclomol mediated effects on lysosomal function in Niemann-pick type C disease.

Shammas H, Kloster Fog C, Klein P, et al.

Molecular genetics and metabolism 2025; (145(1)):109103 doi:10.1016/j.ymgme.2025.109103.

Disease-Modifying, Neuroprotective Effect of N-Acetyl-l-Leucine in Adult and Pediatric Patients With Niemann-Pick Disease Type C.

Patterson MC, Ramaswami U, Donald A, et al.

Neurology 2025; (105(1)):e213589 doi:10.1212/WNL.0000000000213589.

Long-term efficacy and safety of arimoclomol in Niemann-Pick disease type C: Final results of the phase 2/3 NPC-002 48-month open-label extension trial.

Mengel E, Da Riol RM, Del Toro M, et al.

Molecular genetics and metabolism 2025; (145(4)):109189 doi:10.1016/j.ymgme.2025.109189.

Reclassification of variants of uncertain significance in type I collagen genes: a national reference laboratory experience.

Supari N, Baker D, Keigwin S, et al.

Journal of medical genetics 2026; (63(5)):277-283 doi:10.1136/jmg-2025-111334.

An Australian standard of care for Niemann-Pick disease type C.

Tchan M, Smith N, Peters H, et al.

Internal medicine journal 2026; (56(5)):832-848 doi:10.1111/imj.70370.

Current and emerging therapeutic advancements for Niemann-Pick disease type C: where are we now and what does the future hold?

Hahn A

Expert review of neurotherapeutics 2026; (26(6)):539-545 doi:10.1080/14737175.2026.2661657.

N-acetyl-L-leucine in Neurological Disorders: Mechanisms, Evidence, and Therapeutic Perspectives.

Abid M, Akhtar S, Amjad H, et al.

Cerebellum (London, England) 2026; (25(3)).