Genetic misdiagnosis possible
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This German study of SPG8 HSP discovered a new strumpellin mutation and also found evidence that previous genetic diagnoses of SPG8 may have been faulty.
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Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous, neurodegenerative movement disorder. A total of eight KIAA0196/strumpellin variants have thus far been associated with SPG8, a rare dominant HSP. We present a novel strumpellin alteration in a small family with clinically pure HSP. We corroborated its causality by comparing it to rare benign variants at several levels, and, along this line, also re-considered previous genetic reports on SPG8.
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These analyses identified significant challenges in the interpretation of strumpellin alterations, and suggested that at least two of the few families claimed to suffer from SPG8 may have been genetically misdiagnosed.
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SOURCE: J Neurol Sci. 2014 Dec 15;347(1-2):372-4. doi: 10.1016/j.jns.2014.10.018. Epub 2014 Oct 16. Copyright © 2014 Elsevier B.V. All rights reserved. PMID: 25454649 [PubMed – in process]
A novel strumpellin mutation and potential pitfalls in the molecular diagnosis of hereditary spastic paraplegia type SPG8.
Jahic A1, Kreuz F2, Zacher P3, Fiedler J2, Bier A2, Reif S2, Rieger M2, Krüger S2, Beetz C4, Plaschke J2.
- 1Department of Clinical Chemistry and Laboratory Medicine, Jena University Hospital, Jena, Germany.
- 2Gemeinschaftspraxis für Humangenetik, Gutenbergstraße 5, Dresden, Germany.
- 3Gemeinschaftspraxis für Humangenetik, Gutenbergstraße 5, Dresden, Germany; Masters Program General Medicine, Charles University, Prague, Czech Republic.
- 4Department of Clinical Chemistry and Laboratory Medicine, Jena University Hospital, Jena, Germany. Electronic address: [email protected].