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Case Reports
. 2021 Jul:206:106637.
doi: 10.1016/j.clineuro.2021.106637. Epub 2021 Apr 20.

Distal muscle weakness and optic atrophy without central nervous system involvement in a patient with a homozygous missense mutation in the C19ORF12-gene

R J de Vries  1 , B Jaeger  2 , D M E I Hellebrekers  3 , L Reneman  4 , C Verhamme  2 , H J M Smeets  5 , M C van Maarle  1 , M de Visser  6 , F E Bleeker  7
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Free article
Case Reports

Distal muscle weakness and optic atrophy without central nervous system involvement in a patient with a homozygous missense mutation in the C19ORF12-gene

R J de Vries et al. Clin Neurol Neurosurg. 2021 Jul.
Free article

Abstract

Variants of the C19ORF12-gene have been described in patients with spastic paraplegia type 43 and in patients with mitochondrial membrane protein-associated neurodegeneration (MPAN), a subtype of neurodegeneration associated with brain iron accumulation (NBIA). In both subtypes optic atrophy and neuropathy have been frequently described. This case report describes a patient with bilateral optic atrophy and severe distal muscle weakness based on motor neuropathy without involvement of the central nervous system. Exome sequencing revealed a homozygous pathogenic missense variant (c.187G>C;p.Ala63Pro) of the C19ORF12-gene while iron deposits were absent on repeat MR-imaging of the brain, thus showing that peripheral neuropathy and optic neuropathy can be the sole manifestations of the C19ORF12-related disease spectrum whereby iron accumulation in the brain may be absent.

Keywords: C19ORF12; Mitochondrial membrane protein-associated neurodegeneration (MPAN); Motor neuropathy; Neurodegeneration with Brain Iron Accumulation (NBIA).

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