Clinical and Molecular Studies in Two New Cases of ARSACS

Overview

Journal Neurogenetics

Specialty Neurology

Date 2019 Jan 26

PMID 30680480

Citations 8

Authors

Ivana Ricca

Federica Morani

Giacomo Maria Bacci

Claudia Nesti

Roberto Caputo

Alessandra Tessa

Filippo Maria Santorelli

Affiliations

Soon will be listed here.

Abstract

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset neurodevelopmental disorder characterized by the association of spastic ataxia and sensorimotor neuropathy. Additional features include retinal changes and cognitive impairment. Today, next-generation sequencing (NGS) techniques are allowing the rapid identification of a growing number of missense variants, even in less typical forms of the disease, but the pathogenic significance of these changes is often difficult to establish on the basis of classic bioinformatics criteria and genotype/phenotype correlations. Herein, we describe two novel cases of missense mutations in SACS. The two individuals were identified during the genetic screening of a large cohort of patients with inherited ataxias. We discuss how protein studies and specialized ophthalmological investigations could represent useful pointers for the interpretation of genetic data. Combination of these tools with NGS for rapid genotyping might help to identify new true ARSACS cases.

Citing Articles

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A next generation sequencing-based analysis of a large cohort of ataxic patients refines the clinical spectrum associated with spinocerebellar ataxia 21.

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