CSF1R Related Leukoencephalopathy - Rare Childhood Presentation of An Autosomal Dominant Microgliopathy!

Overview

Journal Ann Indian Acad Neurol

Specialty Neurology

Date 2022 Jun 13

PMID 35693676

Authors

Neeharika Sriram

Hansashree Padmanabha

Sadanandavalli R Chandra

Rohan Mahale

Bevinahalli Nandeesh

Maya D Bhat

Rita Christopher

Manisha Gupta

Gautham A Udupi

Pooja Mailankody

Pavagada S Mathuranath

Affiliations

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Citing Articles

Primary Microgliopathy Presenting as Degenerative Dementias: A Case Series of Novel Gene Mutations from India.

Ramakrishnan S, Arshad F, Bs K, Pon A, Bosco S, Kumar S Dement Geriatr Cogn Dis Extra. 2024; 14(1):14-28.

PMID: 38910897 PMC: 11192518. DOI: 10.1159/000538145.

References

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Sundal C, van Gerpen J, Nicholson A, Wider C, Shuster E, Aasly J . MRI characteristics and scoring in HDLS due to CSF1R gene mutations. Neurology. 2012; 79(6):566-74. PMC: 3413763. DOI: 10.1212/WNL.0b013e318263575a. View

Konno T, Yoshida K, Mizuta I, Mizuno T, Kawarai T, Tada M . Diagnostic criteria for adult-onset leukoencephalopathy with axonal spheroids and pigmented glia due to CSF1R mutation. Eur J Neurol. 2017; 25(1):142-147. PMC: 5741468. DOI: 10.1111/ene.13464. View

Oosterhof N, Chang I, Karimiani E, Kuil L, Jensen D, Daza R . Homozygous Mutations in CSF1R Cause a Pediatric-Onset Leukoencephalopathy and Can Result in Congenital Absence of Microglia. Am J Hum Genet. 2019; 104(5):936-947. PMC: 6506793. DOI: 10.1016/j.ajhg.2019.03.010. View

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