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

Marzieh KhaniHosein ShamshiriFarzad FatehiMohammad RohaniBahram Haghi AshtianiFahimeh Haji AkhoundiAfagh AlaviHamidreza MoazzeniHanieh TaheriMina Tolou GhaniLeila JavanparastSeyyed Saleh HashemiRamona Haji-Seyed-JavadiMatineh HeidariShahriar NafissiElahe Elahi

Published in: Molecular genetics & genomic medicine (2020)

We 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 with SPG11 mutations are suggested. The importance of performing both EDX and MRI is emphasized. Initial screening for p.Glu1026Argfs*4 may facilitate SPG11 screenings in Iranian patients.

Keyphrases

end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
prognostic factors
magnetic resonance imaging
computed tomography
magnetic resonance
patient reported