Clinical and genetic features of PKAN patients in a tertiary centre in Turkey
Yükleniyor...
Dosyalar
Tarih
2017
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Elsevier Science Bv
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
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 PI(AN from Turkey that expands the clinical and genetic spectrum of the disease. (C) 2017 Elsevier B.V. All rights reserved.
Açıklama
Anahtar Kelimeler
Pantothenate kinase 2 (PANK2), Pantothenate kinase-associated, neurodegeneration (PKAN), Neurodegeneration with brain iron, accumulation (NBIA), Phenotype-genotype, Kinase-Associated Neurodegeneration, Brain Iron Accumulation, Hallervorden-Spatz-Syndrome, The-Tiger-Sign, Pank2 Gene, Mutations, Dystonia
Kaynak
Clinical Neurology and Neurosurgery
WoS Q Değeri
Q3
Scopus Q Değeri
Q2
Cilt
154
