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Tremor-Dominant Pantothenate Kinase-associated Neurodegeneration
- Source :
- Movement Disorders Clinical Practice. 4:772-774
- Publication Year :
- 2017
- Publisher :
- Wiley, 2017.
-
Abstract
- Background Neurodegeneration with brain iron accumulation (NBIA) includes rare and heterogeneous group of disorders characterized by iron deposition in the basal ganglia. Pantothenate kinase-associated neurodegeneration (PKAN), is the most common NBIA and has two main presentations: typical and atypical, the latter rarely presenting with tremor. Method Reported patients underwent full neurologic examination, a standard brain MRI and genetic testing for PKAN. Results Three cases of ‘tremor-dominant’ PKAN with a relatively benign course were reported: dystonic tremor was seen in one patient and Parkinsonian tremor in remaining ones. All of them had homozygous mutations in PANK2 gene and typical eye of the tiger sign on brain MRI. Conclusions PKAN (and NBIA in general) might be a potential cause of tremor, thus emphasizing the need to consider this diagnosis even in patients with a clinical diagnosis of essential, dystonic or Parkinsonian tremor. This article is protected by copyright. All rights reserved.
- Subjects :
- Pathology
medicine.medical_specialty
medicine.diagnostic_test
Neurodegeneration with brain iron accumulation
Neurodegeneration
Biology
medicine.disease
PANK2
Pantothenate kinase-associated neurodegeneration
nervous system diseases
030218 nuclear medicine & medical imaging
03 medical and health sciences
0302 clinical medicine
Neurology
Clinical diagnosis
Basal ganglia
medicine
Case Series
Neurology (clinical)
Tremor dominant
030217 neurology & neurosurgery
Genetic testing
Subjects
Details
- ISSN :
- 23301619
- Volume :
- 4
- Database :
- OpenAIRE
- Journal :
- Movement Disorders Clinical Practice
- Accession number :
- edsair.doi.dedup.....3458bce1a89294b572bb9277d8e77b63