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Two Novel Biallelic Variants in TECPR2 and FA2H Genes Causing Complicated Hereditary Spastic Paraplegia in Iranian families from lur Ethnicity: Case Series.
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  • Masoud Edizadeh,
  • Negar Chegeninezhad ,
  • Soheila Akbari,
  • Maryam Salehirad,
  • Rezvan Pakmanesh,
  • Shokoufeh Ahmadipour,
  • Kourosh Hayatigolkhatmi,
  • Hamidreza khodadadi
Masoud Edizadeh
Lorestan University of Medical Sciences
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Negar Chegeninezhad
Madar Medical Genetics Center
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Soheila Akbari
Lorestan University of Medical Sciences
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Maryam Salehirad
Madar Medical Genetics center
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Rezvan Pakmanesh
Madar Medical Genetics Center
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Shokoufeh Ahmadipour
Lorestan University of Medical Sciences
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Kourosh Hayatigolkhatmi
European Institute of Oncology
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Hamidreza khodadadi
Lorestan University of Medical Sciences
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Abstract

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.

Peer review status:ACCEPTED

22 Mar 2021Submitted to Clinical Case Reports
23 Mar 2021Assigned to Editor
23 Mar 2021Submission Checks Completed
31 Mar 2021Reviewer(s) Assigned
19 Apr 2021Review(s) Completed, Editorial Evaluation Pending
25 Apr 2021Editorial Decision: Accept