Abstract | OBJECTIVE: 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.
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Authors | Nihan Hande Akcakaya, Sibel Ugur Iseri, Birdal Bilir, Esra Battaloglu, Pinar Tekturk, Murat Gultekin, Gokcen Akar, Remzi Yigiter, Hasmet Hanagasi, Recep Alp, Sultan Cagirici, Mefkure Eraksoy, Ugur Ozbek, Zuhal Yapici |
Journal | Clinical neurology and neurosurgery
(Clin Neurol Neurosurg)
Vol. 154
Pg. 34-42
(Mar 2017)
ISSN: 1872-6968 [Electronic] Netherlands |
PMID | 28113101
(Publication Type: Journal Article)
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Copyright | Copyright © 2017 Elsevier B.V. All rights reserved. |
Chemical References |
- Phosphotransferases (Alcohol Group Acceptor)
- pantothenate kinase
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Topics |
- Age of Onset
- Disease Progression
- Dystonia
(etiology)
- Gait Disorders, Neurologic
(etiology)
- Humans
- Pantothenate Kinase-Associated Neurodegeneration
(complications, genetics, physiopathology)
- Pedigree
- Phosphotransferases (Alcohol Group Acceptor)
(genetics)
- Turkey
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