Article
Bi-allelic TPP1 variants in neuronal ceroid lipofuscinosis 2: clinical findings from an Iranian cohort of 20 patients, founder effect, and in silico analyses.
Human genetics - 2 Feb 2026
Biglari Sajjad, Rezaei Halimeh, Asadollahzadeh Elnaz, Nikuei Pooneh, Sahraian Mohammad Ali, Sohanforooshan Moghaddam Atefeh, Vahidnezhad Hassan, Youssefian Leila, Galehdari Hamid, Seifi Tahere, Chamanrou Niloofar, Heydaran Sogand, Parvas Sahere, Shariati Gholamreza, Saberi Alihossein, Hamid Mohammad, Zareei Taher, Tabasi Shahrzad, Ranjbar Sina, Khademi Gholamreza, Golmakani Hasan, Hashemi Narges, Akhavan Hossein, Naseri Maryam, Donyadideh Nahid, Barkhordari Ehsan, Beiraghi Toosi Mehran, Arabi Samaneh, Heidari Negar, Eghbal Fatemeh, Badpar Hasan, Saeidinia Amin, Imannezhad Shima, Bagheri Sepideh, Lotfi Mojtaba, Mirsadraee Majid, Loghmani Tina, Darabi Azadeh, Derafshi Raheleh, Behmadi Maryam, Boskabadi Abbas, Akhondian Salehe, Eshraghi Peyman, Hosseini Mahya, Farhat Ahmadshah, Ghane Sharbaf Fatemeh, Norooziasl Samaneh, Ghaemi Nosrat, Ahangari Najmeh, Etemadifar Masoud, Moosavian Toktam, Shervin Badv Reza, Houlden Henry, Sarraf Payam, Haghighatzadeh Mahsa, Heidari Morteza, Ghayoor Karimiani Ehsan
Abstract excerpt
Neuronal Ceroid Lipofuscinosis Type 2 (CLN2) is a rare neurodegenerative disorder. It exhibits an autosomal recessive inheritance pattern and is attributable to pathogenic variants in the TPP1 gene. This study sought to identify and characterize TPP1 variants in eighteen Iranian consanguineous families affected by CLN2 disease. A developmental history, brain imaging, and neurological evaluation were conducted....
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