Diagnosis of genetic ataxias in adulthood: protocol for a systematic review.

INTRODUCTION

Genetic ataxias are rare neurological diseases with an extremely heterogeneous molecular background. The involvement of more than 100 genes as well as different mutational mechanisms, with a particular abundance of short tandem repeat expansions, represents an intrinsic challenge in the diagnostic process. Moreover, very frequent molecular aetiologies of ataxias with adult onset have only recently been solved. This protocol presents the methodology of a planned systematic review aimed at establishing a standardised diagnostic workflow for genetic ataxias in adulthood, with the aim of optimising their clinical management.

METHODS AND ANALYSIS: The research question in Population, Intervention, Comparison and Outcome format will cover adult patients evaluated via molecular diagnostic techniques. Primary outcomes will focus on the frequency and distribution of molecular diagnoses. Secondary outcomes will evaluate the overall efficiency of the diagnostic process. The search will be performed from 2012 onwards, including systematic reviews, clinical practice guidelines and primary studies. The initial search strategy in MEDLINE (Ovid) is presented. A description of the prospective assessment of the risk of bias in the selected studies and outcomes is provided. A meta-analysis and subgroup analysis will be conducted if the included studies demonstrate sufficient homogeneity and a robust patient sample size. This protocol follows the Preferred Reporting Items for Systematic review and Meta-Analysis Protocols (PRISMA-P) guidelines.

ETHICS AND DISSEMINATION: As this study involves a systematic review of the literature, ethics committee approval is not required. The findings will be disseminated through a peer-reviewed and open-access journal to ensure broad scientific accessibility.

PROSPERO REGISTRATION NUMBER: CRD420261362380.