Description of combined ARHSP/JALS phenotype in some patients with SPG11 mutations

ConclusionWe suggest that rather than ARHSP or JALS, combined ARHSP/JALS is the appropriate description of seven patients studied. Criteria for ARHSP, JALS, and combined ARHSP/JALS designations among patients withSPG11 mutations are suggested. The importance of performing both EDX and MRI is emphasized. Initial screening for p.Glu1026Argfs*4 may facilitateSPG11 screenings in Iranian patients.

https://onlinelibrary.wiley.com/doi/abs/10.1002/mgg3.1240?af=R

Source: Molecular Genetics & Genomic Medicine - May 7, 2020 Category: Genetics & Stem Cells Authors: Marzieh Khani, Hosein Shamshiri, Farzad Fatehi, Mohammad Rohani, Bahram Haghi Ashtiani, Fahimeh Haji Akhoundi, Afagh Alavi, Hamidreza Moazzeni, Hanieh Taheri, Mina Tolou Ghani, Leila Javanparast, Seyyed Saleh Hashemi, Ramona Haji Seyed Javadi, Tags: ORIGINAL ARTICLE Source Type: research