C9orf72 hexanucleotide repeat expansion in Indian patients with ALS: a common founder and its geographical predilection.

doi:10.1016/j.neurobiolaging.2019.12.024

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Article

C9orf72 hexanucleotide repeat expansion in Indian patients with ALS: a common founder and its geographical predilection.

Neurobiology of aging - 1 Apr 2020

Shamim Uzma, Ambawat Sakshi, Singh Jyotsna, Thomas Aneesa, Pradeep-Chandra-Reddy Chevula, Suroliya Varun, Uppilli Bharathram, Parveen Shaista, Sharma Pooja, Chanchal Shankar, Nashi Saraswati, Preethish-Kumar Veeramani, Vengalil Seena, Polavarapu Kiran, Keerthipriya Muddasu, Mahajan Niranjan Prakash, Reddy Neeraja, Thomas Priya Treesa, Sadasivan Arun, Warrier Manjusha, Seth Malika, Zahra Sana, Mathur Aradhana, Vibha Deepti, Srivastava Achal K, Nalini Atchayaram, Faruq Mohammed

Abstract excerpt

Hexanucleotide repeat expansion in C9orf72 is defined as a major causative factor for familial amyotrophic lateral sclerosis (ALS). The mutation frequency varies dramatically among populations of different ethnicity; however, in most cases, C9orf72 mutant has been described on a common founder haplotype. We assessed its frequency in a study cohort involving 593 clinically and electrophysiologically defined ALS...

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PMID: 32035847
DOI: 10.1016/j.neurobiolaging.2019.12.024

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