Two Novel Biallelic Variants in TECPR2 and FA2H Genes Causing
Complicated Hereditary Spastic Paraplegia in Iranian families from lur
Ethnicity: Case Series.
- Masoud Edizadeh,
- Negar Chegeninezhad ,
- Soheila Akbari,
- Maryam Salehirad,
- Rezvan Pakmanesh,
- Shokoufeh Ahmadipour,
- Kourosh Hayatigolkhatmi,
- Hamidreza khodadadi
Shokoufeh Ahmadipour
Lorestan University of Medical Sciences
Author ProfileHamidreza khodadadi
Lorestan University of Medical Sciences
Author ProfileAbstract
We herein report first Iranian families with spastic paraplegia 35 and
49 and claim that TECPR2 gene causes complicated spastic paraplegia 49
with or without sensory autonomic neuropathy. In addition, we show how
coexistence of SPG49 and griscelli syndrome can lead to misdiagnosis.22 Mar 2021Submitted to Clinical Case Reports 23 Mar 2021Submission Checks Completed
23 Mar 2021Assigned to Editor
31 Mar 2021Reviewer(s) Assigned
19 Apr 2021Review(s) Completed, Editorial Evaluation Pending
25 Apr 2021Editorial Decision: Accept