Objective: The aim of our study was to report the clinical and genetic features of Tunisian patients with paediatric-onset movement disorders, cerebellar ataxia, and HSP.

Background: Early-onset movement disorders, cerebellar ataxia, and hereditary spastic paraplegia (HSP) constitute a group of heterogeneous neurological disorders. The diagnostic approach is often complex and requires molecular studies.

Method: We conducted a retrospective study of a cohort of patients with early-onset movement disorders, cerebellar ataxia, and HSP followed up in the Department of Child and Adolescent Neurology over a 18-month period (from March 2019 to September 2020). These patients were excellent candidates for a molecular analysis by whole exome sequencing (WES).

Results: We enrolled 38 patients (18 male and 20 female) from 24 unrelated families.  The consanguinity rate was above 68%. The median age at onset and at the time of recruitement was 2 years (0.3-13 years) and 11 years (3-47 years) respectively. WES was performed in 24 probands. Deleterious variants ( pathogenic or likely pathogenic ) were identified in 11 different genes : AP4M1, C19orf12 ,SLC25A16, MAN2B1 , GBA2, GFAP, PINK1, HTT, ATP8A2, RTN2, REEP2. Definitive diagnosis was ascertained in 11 cases (44%) : 3 cases of movement disorders, 4 cases of cerebellar ataxia and 4 cases of HSP

Conclusion: We reported the first large cohort of patients with paediatric-onset symptoms of movement disorders, HSP and cerebellar ataxia explored by WES, in Tunisia. The identification of the underlying genetic causes of these pathologies was highly important to confirm the diagnosis, to adapt the management and to provide  an appropriate genetic counseling.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/the-phenotypic-landscape-and-genetic-profile-of-movement-disorders-in-a-cohort-of-tunisian-children/