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

作者：Jahic Amir; Kreuz Friedmar; Zacher Pia; Fiedler Jana; Bier Andrea; Reif Silke; Rieger Manuela; Krueger Stefan; Beetz Christian^*; Plaschke Jens

来源：Journal of the Neurological Sciences, 2014, 347(1-2): 372-374.

DOI：10.1016/j.jns.2014.10.018

• Hereditary spastic paraplegic
• KIAA0196
• Pathogenicity prediction
• SPG8
• Strumpellin

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.

• 出版日期2014-12-15