A Nepalese family with an REEP2 mutation: clinical and genetic study.
J Hum Genet
; 66(7): 749-752, 2021 Jul.
Article
em En
| MEDLINE
| ID: mdl-33526816
ABSTRACT
Hereditary spastic paraplegias (HSPs) are clinically and genetically heterogeneous neurodegenerative disorders characterized by progressive weakness and spasticity in the lower limbs due to pyramidal tract dysfunction. REEP2 mutations have been identified as a cause of "pure" HSP, SPG72, with both autosomal dominant and autosomal recessive inheritance. We describe a rare Nepalese family with early-onset pure-type HSP harboring a heterozygous REEP2 missense mutation (c.119T>G, p.Met40Arg). This is only the second SPG72 family with autosomal dominant inheritance. The proband presented slow and spastic gait at age 2 years and the symptoms progressed slowly. The proband's father and uncle presented even milder symptoms of pure spastic paraplegia. Our study may provide an opportunity to further study the genotype-phenotype correlation of SPG72.
Texto completo:
1
Bases de dados:
MEDLINE
Assunto principal:
Proteínas de Membrana Transportadoras
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Paraplegia Espástica Hereditária
/
Predisposição Genética para Doença
Limite:
Adult
/
Child, preschool
/
Humans
/
Male
País/Região como assunto:
Asia
Idioma:
En
Revista:
J Hum Genet
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2021
Tipo de documento:
Article
País de afiliação:
Japão