T2* and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation.
Abstract | BACKGROUND: OBJECTIVE: To define the radiologic features of each NBIA subtype. METHODS: Brain MRIs from patients with molecularly confirmed PKAN (26 cases), neuroferritinopathy (21 cases), INAD (four cases), and aceruloplasminemia (10 cases) were analyzed blindly to delineate patterns of iron deposition and neurodegeneration. RESULTS: In most cases of PKAN, abnormalities were restricted to globus pallidus and substantia nigra, with 100% having an eye of the tiger sign. In a minority of PKAN cases there was hypointensity of the dentate nuclei (1/5 on T2* sequences, 2/26 on fast spin echo [FSE]). In INAD, globus pallidus and substantia nigra were involved on T2* and FSE scans, with dentate involvement only seen on T2*. By contrast, neuroferritinopathy had consistent involvement of the dentate nuclei, globus pallidus, and putamen, with confluent areas of hyperintensity due to probable cavitation, involving the pallida and putamen in 52%, and a subset having lesions in caudate nuclei and thalami. More uniform involvement of all basal ganglia and the thalami was typical in aceruloplasminemia, but without cavitation. CONCLUSIONS: In the majority of cases, different subtypes of neurodegeneration associated with brain iron accumulation can be reliably distinguished with T2* and T2 fast spin echo brain MRI, leading to accurate clinical and subsequent molecular diagnosis.
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Authors | A McNeill, D Birchall, S J Hayflick, A Gregory, J F Schenk, E A Zimmerman, H Shang, H Miyajima, P F Chinnery |
Journal | Neurology
(Neurology)
Vol. 70
Issue 18
Pg. 1614-9
(Apr 29 2008)
ISSN: 1526-632X [Electronic] United States |
PMID | 18443312
(Publication Type: Journal Article, Multicenter Study, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't)
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Chemical References |
- FTL protein, human
- Ferritins
- Apoferritins
- Iron
- Ceruloplasmin
- Phosphotransferases (Alcohol Group Acceptor)
- pantothenate kinase
- Group VI Phospholipases A2
- PLA2G6 protein, human
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Topics |
- Adolescent
- Adult
- Aged
- Apoferritins
- Brain Chemistry
- Ceruloplasmin
(deficiency)
- Child
- Child, Preschool
- Diagnosis, Differential
- Europe
- Female
- Ferritins
(genetics)
- Group VI Phospholipases A2
(deficiency, genetics)
- Humans
- Iron
(analysis)
- Magnetic Resonance Imaging
(methods)
- Male
- Middle Aged
- Neuroaxonal Dystrophies
(diagnosis, genetics, metabolism, pathology)
- Neurodegenerative Diseases
(diagnosis, genetics, metabolism, pathology)
- North America
- Phosphotransferases (Alcohol Group Acceptor)
(deficiency, genetics, metabolism)
- Retrospective Studies
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