A rare case of Niemann Pick Disease with a novel variant in the NPC2 gene presenting with neuropsychiatric manifestations in middle age.

Agarwal, Akanksha; Praveen, A Parvathy; Singhai, Kartik; Ashitha, S N M; Purushottam, Meera; Jain, Sanjeev; Moirangthem, Sydney

Agarwal, Akanksha; Praveen, A Parvathy; Singhai, Kartik; Ashitha, S N M; Purushottam, Meera; Jain, Sanjeev; Moirangthem, Sydney.

Affiliation

Agarwal A; Department of Psychiatry, National Institute of Mental Health and Neurosciences, Bangalore (NIMHANS), 560029, India.
Praveen AP; Department of Psychiatry, National Institute of Mental Health and Neurosciences, Bangalore (NIMHANS), 560029, India.
Singhai K; Department of Psychiatry, National Institute of Mental Health and Neurosciences, Bangalore (NIMHANS), 560029, India.
Ashitha SNM; Department of Molecular Genetics, National Institute of Mental Health And Neurosciences (NIMHANS), Bangalore 560029, India.
Purushottam M; Department of Molecular Genetics, National Institute of Mental Health And Neurosciences (NIMHANS), Bangalore 560029, India.
Jain S; Department of Psychiatry, National Institute of Mental Health and Neurosciences, Bangalore (NIMHANS), 560029, India.
Moirangthem S; Central Queensland Hospital and Health Service, Gladstone, Queensland 4680, Australia; Department of Psychiatry, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore 560029, India. Electronic address: sydmoir@gmail.com.

Asian J Psychiatr ; 97: 104089, 2024 Jul.

Article in En | MEDLINE | ID: mdl-38838476

Subject(s)
Key words

Homozygous missense variation; Neimann Pick Disease; Whole exome sequencing

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Vesicular Transport Proteins Limits: Adult / Humans / Male Language: En Journal: Asian J Psychiatr / Asian journal of psychiatry (Online) Year: 2024 Document type: Article Country of publication: Países Bajos

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