Frontotemporal dementia, Parkinsonism and lower motor neuron involvement in a patient with C9ORF72 expansion

Abstract

It has been recently reported that a large proportion of patients with familial and sporadic amyotrophic lateral sclerosis (ALS) and/or frontotemporal dementia (FTD) carries the hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72. We describe a patient with a complex phenotype characterized by behavioural variant of FTD, Parkinsonism and ALS with predominant lower motor neuron involvement in which the C9ORF72 expansion was detected.

Key words::

• Amyotrophic lateral sclerosis
• C9ORF72
• frontotemporal dementia
• Parkinsonism

Declaration of interest: The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.