A likely pathogenic variant in the SLC20A2 gene presenting with progressive myoclonus.
Ann Clin Transl Neurol
; 6(3): 605-609, 2019 03.
Article
em En
| MEDLINE
| ID: mdl-30911583
ABSTRACT
A 60-year-old man is presented with progressive involuntary muscle movements and neuropsychiatric symptoms who developed a variety of additional complaints over 2 years. Brain imaging revealed bilateral basal ganglia calcifications suggesting primary familial brain calcification. Analysis of the SLC20A2 gene revealed a missense mutation (c.541C>T, p.(Arg181Trp)), in silico predicted to be deleterious and not found in available databases. Segregation analysis confirmed his asymptomatic father to harbor the same mutation, though on brain imaging basal ganglia calcifications were found. This report illustrates the intrafamilial variability of the phenotype and generalized myoclonus as the presenting symptom.
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Base de dados:
MEDLINE
Assunto principal:
Calcinose
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Doenças Neurodegenerativas
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Proteínas Cotransportadoras de Sódio-Fosfato Tipo III
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Mioclonia
Idioma:
En
Ano de publicação:
2019
Tipo de documento:
Article