Distal muscle weakness and optic atrophy without central nervous system involvement in a patient with a homozygous missense mutation in the C19ORF12-gene.
Clin Neurol Neurosurg
; 206: 106637, 2021 Jul.
Article
em En
| MEDLINE
| ID: mdl-34022688
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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Atrofias Ópticas Hereditárias
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Doenças do Sistema Nervoso Periférico
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Debilidade Muscular
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Distrofias Neuroaxonais
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Proteínas Mitocondriais
Limite:
Adult
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Humans
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Male
Idioma:
En
Revista:
Clin Neurol Neurosurg
Ano de publicação:
2021
Tipo de documento:
Article
País de afiliação:
Holanda