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Article

C9ORF72 Intermediate Repeat Expansion in a Patient With Psychiatric Disorders and Progressive Cerebellar Ataxia.

The neurologist - 1 Nov 2017

Meloni Mario, Farris Rita, Solla Paolo, Mascia Marcello M, Marrosu Francesco, Cannas Antonino

Abstract excerpt

INTRODUCTION: Large expansions of the noncoding GGGGCC repeat (more than 30) in the first intron of the C9ORF72 gene have been demonstrated to cause amyotrophic lateral sclerosis and frontotemporal dementia. Recent papers have investigated the possible pathogenic role and associated clinical phenotypes of hexanucleotide expansions with intermediate repeat lengths ranging between 20 and 29 repeats. CASE REPORT: We...

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PMID: 29095328
DOI: 10.1097/NRL.0000000000000147

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