Session Time: 1:45pm-3:15pm
Location: Agora 2 West, Level 2
Objective: To describe clinical features, imaging and genetic findings of 6 Tunisian families diagnosed with PKAN.
Background: Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disease caused by mutations in the PANK2 gene with clinical features marked by progressive movement disorders.
Method: We conducted a descriptive study over a 12-year period (2006-2018) including 6 families diagnosed with PKAN. Clinical characteristics, imaging findings, genetic studies and management were analyzed.
Results: Four girls and 2 boys were followed up in our department for PKAN. The main age of onset was 4.4 years. Dystonia was the main clinical feature observed in all our patients which was complicated by status dystonicus in 3 of them. MRI showed the eye-of-the-tiger signs in all our patients. Genetic studies showed in 5 cases that the proband, with a clinical diagnosis of PKAN, has the mutation in both PANK2 alleles, each one inherited from the heterozyous unaffected parent.
Conclusion: This study has enabled to investigate a patient series from 6 Tunisian families diagnosed with PKAN. All the mutations were detected in the homozygous state. This comprehensive and family oriented study may, in the future, enable for families to receive better genetic counseling.
To cite this abstract in AMA style:H. Benrhouma, I. Kraoua, H. Klaa, A. Rouissi, EM. Valente, I. Benyoussef Turki. Pantothenate kinase-associated neurodegeneration in Tunisian families [abstract]. Mov Disord. 2019; 34 (suppl 2). https://www.mdsabstracts.org/abstract/pantothenate-kinase-associated-neurodegeneration-in-tunisian-families/. Accessed December 10, 2023.
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