Abstract | AIMS: METHODS: All three cases were genetically screened for the PANK2 gene mutations using standard Sanger polymerase chain reaction sequencing. A detailed neuropathological assessment of the three cases was performed using histochemical and immunohistochemical preparations. RESULTS: All cases had classical axonal swellings and Perls' positive iron deposition in the basal ganglia. In contrast to neuroaxonal dystrophies due to mutation of the phospholipase A2, group VI (PLA2G6) gene, in which Lewy body pathology is widespread, no α- synuclein accumulation was detected in any of our PKAN cases. In one case (20-year-old male) there was significant tau pathology comprising neurofibrillary tangles and neuropil threads, with very subtle tau pathology in another case. CONCLUSIONS: These findings indicate that PKAN is not a synucleinopathy and, hence the cellular pathways implicated in this disease are unlikely to be relevant for the pathomechanism of Lewy body disorders.
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Authors | A Li, R Paudel, R Johnson, R Courtney, A J Lees, J L Holton, J Hardy, T Revesz, H Houlden |
Journal | Neuropathology and applied neurobiology
(Neuropathol Appl Neurobiol)
Vol. 39
Issue 2
Pg. 121-31
(Feb 2013)
ISSN: 1365-2990 [Electronic] England |
PMID | 22416811
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
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Copyright | © 2012 The Authors. Neuropathology and Applied Neurobiology © 2012 British Neuropathological Society. |
Chemical References |
- alpha-Synuclein
- tau Proteins
- Phosphotransferases (Alcohol Group Acceptor)
- pantothenate kinase
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Topics |
- Adult
- Basal Ganglia
(metabolism, pathology)
- Child
- Female
- Humans
- Lewy Body Disease
(metabolism)
- Male
- Pantothenate Kinase-Associated Neurodegeneration
(genetics, metabolism, pathology)
- Phosphotransferases (Alcohol Group Acceptor)
(genetics)
- Young Adult
- alpha-Synuclein
(metabolism)
- tau Proteins
(metabolism)
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