Fouad A Alshaban, Iman Ghazal, Sanaa T Al-Harahsheh, Mustafa Lotfy, Hawraa Al-Shammari, Fatema Al-Faraj, I Richard Thompson, Allison B Ratto, Assal Nasir, Mohamed Tolefat
Effects of COVID-19 on Autism Spectrum Disorder in Qatar
Frontiers in psychiatry
mutations gene encoding optineurin optn reported context different neurodegenerative diseases including amyotrophic lateral sclerosis als frontotemporal dementia ftd spectrum based single case reports neuropathological data optn mutation carriers revealed transactive response dnabinding protein 43 kda tdp43 pathology addition accumulations tau alphasynuclein herein present two siblings consanguineous family homozygous frameshift mutation optn gene different clinical presentations affected siblings underwent clinical ii neurophysiological iii neuropsychological iv radiological v laboratory examinations vi wholeexome sequencing wes postmortem histopathological examination conducted index patient deceased age 41 index patient developed rapidly progressing clinical features upper lower motor neuron dysfunction well apathy cognitive deterioration age 41 autopsy revealed alsftld pattern associated prominent neuronal oligodendroglial tdp43 pathology atypical limbic 4repeat tau pathology reminiscent argyrophilic grain disease brother index patient exhibited behavioral changes mnestic deficits age 38 diagnosed behavioral ftd 5 years later without evidence motor neuron dysfunction wes revealed homozygous frameshift mutation optn gene siblings nm0010082122 c10781079del plys360valfster18 optn mutations associated extensive tdp43 pathology limbicpredominant tauopathy present heterogeneous clinical phenotype within alsftd spectrum within family