Amyotrophic Lateral Sclerosis with Frontotemporal Dementia in the Presence of C9orf72 Repeat Expansion—A Case Report

Innovations in Clinical Neuroscience

Murali K. Kolikonda¹  Chaitanya Bonda¹  Steven Lippmann¹  Martin E. Brown¹ 

[1] Drs. Bonda and Brown are with the Department of Neurology and Drs. Kolikonda and Lippman are with the Department of Psychiatry at the University of Louisville School of Medicine in Louisville, Kentucky, USA.

关键词: Amyotrophic lateral sclerosis;    frontotemporal dementia;    neurodegenerative dementia;    dementia;    genetics;    C9orf72 gene;    GGGGCC repeat expansion;   

DOI  :  

学科分类：精神健康和精神病学

来源: Matrix Medical Communications, LLC

【 摘 要 】

Amyotrophic lateral sclerosis and frontotemporal dementia are significant neurodegenerative illnesses with possible genetic predispositions. The C9orf72 gene and the GGGGCC repeat expansions of it are reported to have a causative role in the expression of these conditions. We report a case of a patient with autosomal dominant amyotrophic lateral sclerosis and frontotemporal dementia (ALS-FTD) in the presence of C9orf72 repeat expansion. We believe our case further supports the theory that the presence of C9orf72 repeat expansion in patients with a family history of amyotrophic lateral sclerosis and/or frontotemporal dementia significantly increases their risk of developing either or both diseases. The development of antisense oligonucleotides that might target GGGGCC RNA sequences theoretically may have a therapeutic role in mitigating the clinical expression of these illnesses.

【 授权许可】

Unknown