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A novel strumpellin mutation and potential pitfalls in the molecular diagnosis of hereditary spastic paraplegia type SPG8

A. Jahic, F. Kreuz, P. Zacher, J. Fiedler, A. Bier, S. Reif, M. Rieger, S. Krüger, C. Beetz, J. Plaschke,

. 2014 ; 347 (1-2) : 372-4. [pub] 20141016

Jazyk angličtina Země Nizozemsko

Typ dokumentu kazuistiky, časopisecké články, práce podpořená grantem

Perzistentní odkaz   https://www.medvik.cz/link/bmc15031658

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. 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.

Citace poskytuje Crossref.org

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$a Kreuz, Friedmar $u Gemeinschaftspraxis für Humangenetik, Gutenbergstraße 5, Dresden, Germany.
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$a Zacher, Pia $u Gemeinschaftspraxis für Humangenetik, Gutenbergstraße 5, Dresden, Germany; Masters Program General Medicine, Charles University, Prague, Czech Republic.
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$a Beetz, Christian $u Department of Clinical Chemistry and Laboratory Medicine, Jena University Hospital, Jena, Germany. Electronic address: christian.beetz@med.uni-jena.de.
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