DISCOVERIES REPORTS (ISSN 2393249X), 2020, volume 3

CITATION: 

Sulaiman RA, Wakil SM, Boholega S. Late-onset cerebellar ataxia in an adult with a novel mutation in the CLN5 gene. Discoveries Reports 2020; 3: e8. DOI: 10.15190/drep.2020.2

 Submitted: June 25, 2020; Revised: July 08, 2020; Accepted: July 08, 2020; Published: July 17, 2020;

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Late-onset cerebellar ataxia in an adult with a novel mutation in the CLN5 gene

Raashda A. Sulaiman (1,4,*), Salma Majid Wakil (2), Saeed Boholega (3)

(1) Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia

(2) College of Medicine, Alfaisal University, Riyadh, Saudi Arabia

(3) Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia

(4) Department of Neurosciences, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia

*Correspondence to: Dr. Raashda A. Sulaiman, Department of Medical Genetics, MBC: 75, King Faisal Specialist Hospital and Research Centre, PO Box No: 3354, Riyadh, 11211, Saudi Arabia; Phone: +966-11-4424988; Fax: +966-11-4424126; Email: rsulaiman@kfshrc.edu.sa

Abstract

Neuronal ceroid lipofuscinosis (NCL) is a neurodegenerative disorder which mostly presents in early life and is associated with a premature death. Here, we report a 50-year-old Saudi male who presented with cerebellar ataxia and whole exome sequencing identified a previously undescribed, homozygous mutation in the CLN5 gene (c.562T>C; p.Phe188Leu). This mutation was predicted to be pathogenic based on bioinformatics tools scoring; PolyPhen-2 (1) and SIFT (0.0). He did not have a visual impairment, cortical atrophy or cognitive decline, which were reported in previous adult cases associated with CLN5 mutation. This case, therefore, further expands the molecular and clinical phenotype associated with CLN5 mutation. It also highlights the role of next-generation sequencing analysis in providing early insights and diagnosis of rare hereditary disorders.

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