Ann Clin Neurophysiol.  2020 Apr;22(1):33-36. 10.14253/acn.2020.22.1.33.

Likely pathogenic FIG4 related amyotrophiclateral sclerosis patient whocorrelated with clinical, imaging andneuropsychological studies

• Ko PW
• Min YS
• Park JS

• KMID: 2500302
• DOI: http://doi.org/10.14253/acn.2020.22.1.33

Abstract

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder with numerous causes that include genetic factors. Efforts to reveal the genetics of ALS have identified several candidate genes that are associated with familial and sporadic ALS. Here we report a Korean ALS patient who showed prominent upper motor-neuron-related symptoms with marked brain atrophy and neuropsychological deficits. The findings were highly suggestive of ALS in a patient with a likely pathogenic FIG4 variant.

Keyword

Amyotrophic lateral sclerosis; Atypical; Brain; Gene

Figure

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  Fig. 1. (A) Coronal and (B) axial brain magnetic resonance imaging revealed frontal dominant cortical atrophy. Sanger sequencing of the patient revealed a missense mutation in the FIG4 gene (c.2147G>A, R716H) that was predicted to be deleterious in in-silico analyses (C).

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