Evidence map›Paper›PMID 42761304›Full record

ArticleFrontiers in pediatrics2026

Clinical and molecular spectrum of Niemann-Pick disease type C patients in India.

Jayesh Sheth, Aadhira Nair, Riddhi Bhavsar, Pankti Jasani, Niyati Saini, Aditi Baluni, Vykuntaraju K Gowda, Mamta Muranjan, Ashish Bavdekar, Abhijeet Botre and 19 more

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Article in Frontiers in pediatrics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

29 authors.

Jayesh ShethFRIGE'S Institute of Human Genetics, Ahmedabad, India.
Aadhira NairFRIGE'S Institute of Human Genetics, Ahmedabad, India.
Riddhi BhavsarFRIGE'S Institute of Human Genetics, Ahmedabad, India.
Pankti JasaniFRIGE'S Institute of Human Genetics, Ahmedabad, India.
Niyati SainiFRIGE'S Institute of Human Genetics, Ahmedabad, India.
Aditi BaluniFRIGE'S Institute of Human Genetics, Ahmedabad, India.
Vykuntaraju K GowdaDepartment of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India.
Mamta MuranjanDepartment of Pediatrics, K.E.M Hospital, Mumbai, India.
Ashish BavdekarDepartment of Pediatrics, K.E.M Hospital, Pune, India.
Abhijeet BotreDepartment of Pediatrics, K.E.M Hospital, Pune, India.
Sandeep KadamDepartment of Pediatrics, K.E.M Hospital, Pune, India.
Sheela NampoothiriDepartment of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Centre, Amrita Vishwa Vidyapeetham, Kochi, India.
Anupkumar P RawoolSahyadri Hospital, Hadapsar, Pune, India.
Chaitanya A DatarBharati Hospital and Research Centre, Dhankawadi, Pune, India.
Nishant DharsandiaHem Onc Care Center, Rajkot, India.
Shruti BajajThe Purple Gene Clinic, Simplex Khushaangan, Malad West, Mumbai, India.
Anupriya KaurPostgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India.
Seema KapoorDivision of Genetics and Metabolism, Department of Pediatrics, Maulana Azad Medical College, Delhi, India.
Dhaval SolankiNirmal Mantra Children's Hospital, Bhavnagar, India.
Siddharth M ShahRoyal Institute of Child Neurosciences, Vastrapur, Ahmedabad, India.
Mahesh KamateKLES Prabhakar Kore Hospital, Belgaum, India.
I C VermaCentre of Medical Genetics, Sir Ganga Ram Hospital, New Delhi, India.
Sushma K SureshSt. John's Medical College, Bangalore, India.
Vrajesh UdaniP. D. Hinduja National Hospital and Medical Research Center, Mumbai, India.
Rutuja BadgeDepartment of Pediatrics, Lokmanya Tilak Municipal Medical College & General Hospital (Sion Hospital), Mumbai, India.
Prachi KarnikDepartment of Pediatrics, Lokmanya Tilak Municipal Medical College & General Hospital (Sion Hospital), Mumbai, India.
Soumya MercySri Venkateswara Ramnarayan Ruia Government General Hospital, Tirupati, India.
Frenny ShethFRIGE'S Institute of Human Genetics, Ahmedabad, India.
Harsh ShethFRIGE'S Institute of Human Genetics, Ahmedabad, India.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Niemann-Pick disease type C (NPC) is a rare autosomal recessive lysosomal disorder caused by pathogenic variants in Methods: We conducted a retrospective multicentre study of 28 patients with NPC diagnosed between 2010 and 2026 based on clinical, biochemical, and molecular investigations. Filipin staining was done in two patients. Plasma chitotriosidase activity ( Results: Hepatosplenomegaly was the most common presenting feature, followed by developmental delay, neuroregression, ataxia, seizures, and vertical supranuclear gaze palsy. Importantly, nearly one-third of patients presented with isolated visceral manifestations in the absence of neurological involvement. Molecular analysis identified 32 variants (27 in Conclusion: The present study provides a comprehensive characterization of the clinical spectrum and molecular heterogeneity of NPC in a large cohort of patients of Indian origin.

Indexed as

Niemann-Pick disease type Cnovel variantNPC1NPC2smMIP

Identifiers

PMID42761304
PMCPMC13586024

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