Clinical and genetic features of PKAN patients in a tertiary centre in Turkey

Abstract

Objective: Pantothenate kinase-associated neurodegeneration (PKAN) is caused by mutations of the pantothenate kinase 2 (PANK2) gene. The major clinical sign of PKAN is dystonia and the eye-of-the-tiger pattern on the MRI has been a clue for the diagnosis. We aim to discuss clinical and genetic findings of 22 PKAN patients from 13 families.

Methods: Twenty-two patients were clinically diagnosed with PKAN and screened for PANK2 mutations. The patients were classified according to their onset age and progression rate.

Results: Mutation screening revealed 5 novel and 7 previously reported sequence variants in PANK2. The variants identified were in the form of missense changes, small exonic deletions and intronic mutations with a probable splicing effect. The presenting features were dystonia and gait disturbance in early onset patients, whereas the presenting symptoms were variable for the late onset group. The progression rate of the disease was not uniform.

Conclusion: The current report is the first patient series of PKAN from Turkey that expands the clinical and genetic spectrum of the disease.

Keywords: Neurodegeneration with brain iron accumulation (NBIA); Pantothenate kinase 2 (PANK2); Pantothenate kinase-associated neurodegeneration (PKAN); Phenotype-genotype.