Open AccessTwo novel biallelic variants in TECPR2 and FA2H genes causing complicated hereditary spastic paraplegia in Iranian families from Lur ethnicity: Case series
Author(s) -
Edizadeh Masoud,
Chegeninejad Negar,
Akbari Soheila,
Salehirad Maryam,
Pakmanesh Rezvan,
Ahmadipour Shokoufeh,
Hayatigolkhatmi Kourosh,
Khodadadi Hamidreza
Publication year - 2021
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.4293
Subject(s) - hereditary spastic paraplegia , paraplegia , medicine , spastic , gene , physical medicine and rehabilitation , genetics , phenotype , psychiatry , biology , spinal cord , cerebral palsy
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.