Novel mutations in FLVCR1 cause tremors, sensory neuropathy with retinitis pigmentosa.
Neuropathology
; 44(2): 87-95, 2024 Apr.
Article
em En
| MEDLINE
| ID: mdl-37469134
ABSTRACT
The mutations of the feline leukemia virus subgroup C receptor-related protein 1 (FLVCR1) cause ataxia with retinitis pigmentosa. Recent studies indicated a large variation in the phenotype of FLVCR1-associated diseases. In this report, we describe an adult male who manifested first with tremors in his third decade, followed by retinitis pigmentosa, sensory ataxia, and sensory neuropathy in his fourth decade. While retinitis pigmentosa and sensory ataxia are well-recognized features of FLVCR1-associated disease, tremor is rarely described. Whole-exome sequencing revealed novel compound heterozygous pathogenic FLVCR1 variants c.498 G > A; p.(Trp166*) and c.369 T > G; p.(Phe123Leu). In addition, we have highlighted the ultrastructural abnormalities of the sural biopsy in this patient.
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Texto completo:
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Base de dados:
MEDLINE
Assunto principal:
Retinose Pigmentar
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Doenças do Sistema Nervoso Periférico
Limite:
Adult
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Humans
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Male
Idioma:
En
Ano de publicação:
2024
Tipo de documento:
Article