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01-03-2021 | Epilepsy | Original Article

Neuronal ceroid lipofuscinosis: genetic and phenotypic spectrum of 14 patients from Turkey

Authors: Melis Kose, Engin Kose, Aycan Ünalp, Ünsal Yılmaz, Selvinaz Edizer, Hande Gazeteci Tekin, Pakize Karaoğlu, Taha Reşid Özdemir, Esra Er, Hüseyin Onay, Eser Sozmen Yildirim

Published in: Neurological Sciences | Issue 3/2021

Abstract

Introduction and purpose

Neuronal ceroid lipofuscinoses (NCLs) is a group of congenital metabolic diseases where the neurodegenerative process with the accumulation of ceroid and lipofuscin autofluorescent storage materials is at the forefront. According to the age of presentation, NCLs are classified as congenital, infantile (INCL), late infantile (LINCL), juvenile (JNCL), and adult (ANCL) NCLs. In our study, it was aimed to discuss the clinical and molecular characteristics of our patients diagnosed with NCL.

Material and method

This is a descriptive cross-sectional study which was conducted in 14 patients from 10 unrelated families who were diagnosed with different types of NCL based on clinical presentation, neuroimaging, biochemical measurements, and molecular analyses, at the department of pediatric metabolism between June 2015 and June 2020.

Results

A total of 14 patients were diagnosed with different types of NCL. Of those, 4 patients were diagnosed with NCL7 (4/14; 30%), 3/14 (23%) with NCL1, 3/14 (23%) with NCL2, 2/14 (14.2%) with NCL13, and 1/14 (7.1%) with NCL10. Eleven pathogenic variants were detected, 5 of which are novel (c.721G>T [p.Gly241Ter] and c.301G>C [p.Ala146Pro] in MFDS8 gene; c.316C>T [p.Gln106Ter] in PPT1 gene; c.341C>T [p.Ala114Val] in TPP1 gene; c.686A>T [p.Glu229Val] in CTSD gene)

Conclusion

This study is one of the pioneer comprehensive researches from Turkey that provides information about disease-causing variants and clinical presentation of different and rare types of NCLs. The identification of novel variants and phenotypic expansion is important for genetic counselling in Turkey and expected to improve understanding of NCLs.

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Title: Neuronal ceroid lipofuscinosis: genetic and phenotypic spectrum of 14 patients from Turkey
Authors: Melis Kose
Engin Kose
Aycan Ünalp
Ünsal Yılmaz
Selvinaz Edizer
Hande Gazeteci Tekin
Pakize Karaoğlu
Taha Reşid Özdemir
Esra Er
Hüseyin Onay
Eser Sozmen Yildirim
Publication date: 01-03-2021
Publisher: Springer International Publishing
Keyword: Epilepsy
Published in: Neurological Sciences / Issue 3/2021
Print ISSN: 1590-1874
Electronic ISSN: 1590-3478
DOI: https://doi.org/10.1007/s10072-021-05067-8

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Neuronal ceroid lipofuscinosis: genetic and phenotypic spectrum of 14 patients from Turkey

Abstract

Introduction and purpose

Material and method

Results

Conclusion

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Abstract

Introduction and purpose

Material and method

Results

Conclusion

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