Involvement of Globus Pallidus and Midbrain Nuclei in Pantothenate Kinase-Associated Neurodegeneration Measurement of T2 and T2 Time

• Published in: Clinical neuroradiology (Munich) Vol. 23; no. 1; pp. 11 - 15
• Main Authors: Fermin-Delgado, R., Roa-Sanchez, P., Speckter, H., Perez-Then, E., Rivera-Mejia, D., Foerster, B., Stoeter, P.
• Format: Journal Article
• Language: English
• Published: Berlin/Heidelberg Springer-Verlag 01.03.2013; Springer Nature B.V
• Subjects: Adolescent; Female; Globus Pallidus - pathology; Humans; Image Interpretation, Computer-Assisted - methods; Magnetic Resonance Imaging - methods; Male; Medicine; Medicine & Public Health; Mesencephalon - pathology; Neurodegeneration; Neurology; Neuroradiology; Neurosurgery; Original Article; Pantothenate Kinase-Associated Neurodegeneration - pathology; Reproducibility of Results; Sensitivity and Specificity; Young Adult; Globus pallidus; Tiger’s eye; Pantothenate kinase-associated neurodegeneration; Magnetic resonance imaging; Relaxation times
• ISSN: 1869-1439; 1869-1447
• DOI: 10.1007/s00062-011-0127-9

Purpose To quantify involvement of globus pallidus and two midbrain nuclei (substantia nigra and red nucleus) in Pantothenate Kinase-Associated Neurodegeneration (PKAN). Material and Methods We performed T2 and T2* weighted imaging with calculation of the corresponding relaxation times on a subset of 5 patients from a larger group of 20 patients with PKAN from the southwest part of the Dominican Republic. Examinations were carried out on a 3T scanner and included a multi-echo spin-echo as well as a multi-echo gradient echo sequence. Results were compared to a control group of 19 volunteers. Results T2 and T2* weighted sequences showed abnormal signal reduction in the globus pallidus of all patients. On T2* weighted imaging, abnormal signal in the substantia nigra could reliably be detected in 75% of cases, but differentiation from normal was less reliable in T2 weighted scans. Correspondingly, relaxation times differed from normal with very high significance (p < 0.0001) in the globus pallidus, but with with less significance in the substantia nigra (p ≤ 0.03). The red nucleus was not affected. Conclusions Signal reduction in the globus pallidus, which probably is due to abnormal accumulation of iron, is severe in PKAN and can be differentiated from normal with high reliability. The substantia nigra is affected to a lesser degree, and the red nucleus is not involved. The reason for this selective susceptibility of normally iron-rich brain structures for pathological accumulation of iron remains speculative. Our quantitative results might be helpful to assess the value of an iron chelation approach to therapy.