Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single center.

ABSTRACT:

Background

Ceroid lipofuscinoses neuronal 6 (CLN6) disease belongs to the neuronal ceroid lipofuscinoses (NCLs), complex and genetically heterogeneous disorders with wide geographical and phenotypic variation. The first clinical signs usually appear between 18 months and 8 years, but examples of later-onset have also been reported. Common manifestations include ataxia, seizures, vision impairment, and developmental regression. Because these are shared by other neurological diseases, identification of CLN6 genetic variants is imperative for early diagnosis.

Results

We present one of the largest cohorts to date of genetically diagnosed CLN6 patients screened at a single center. In total 97 subjects, originating from 20 countries were screened between 2010 and 2020. They compri

SUBMITTER: Rus CM 

PROVIDER: S-EPMC9066917 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature