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- Title
A novel PNPLA6 mutation in a Turkish family with intractable Holmes tremor and spastic ataxia.
- Authors
Emekli, Ahmed S.; Samanci, Bedia; Şimşir, Gülşah; Hanagasi, Hasmet A.; Gürvit, Hakan; Bilgiç, Başar; Başak, A. Nazlı
- 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.
- Subjects
ATAXIA; NEUROLOGICAL disorders; PHENOTYPIC plasticity; TREMOR; GENETIC disorders; SPINOCEREBELLAR ataxia; KALLMANN syndrome
- Publication
Neurological Sciences, 2021, Vol 42, Issue 4, p1535
- ISSN
1590-1874
- Publication type
Article
- DOI
10.1007/s10072-020-04869-6