A novel PNPLA6 mutation in a Turkish family with intractable Holmes tremor and spastic ataxia.
Neurol Sci
; 42(4): 1535-1539, 2021 Apr.
Article
em En
| MEDLINE
| ID: mdl-33210227
ABSTRACT
Autosomal recessive cerebellar ataxias are a group of rare neurological diseases with a genetic origin. Recently, the mutations in the PNPLA6 gene were suggested to lead to ataxia and also to other specific syndromes such as Boucher-Neuhauser (ataxia, hypogonadism, and chorioretinal dystrophy) or Gordon-Holmes Syndromes (ataxia, hypogonadism, and brisk reflexes) within a broad spectrum of neurodegenerative diseases. Here we report three patients from a single-family with a novel pathogenic mutation in the PNPLA6 gene which led to predominantly spastic-ataxia, and intractable Holmes tremor. The PNPLA6-related disease should be considered in the differential diagnosis of spastic-ataxias even in the absence of chorioretinal dystrophy, and hypogonadotropic hypogonadism. Further studies should unravel the factors which account for the phenotypic variability present in patients with PNPLA6 gene mutations.
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Base de dados:
MEDLINE
Assunto principal:
Fosfolipases
/
Espasticidade Muscular
Limite:
Humans
Idioma:
En
Ano de publicação:
2021
Tipo de documento:
Article