A novel PNPLA6 mutation in a Turkish family with intractable Holmes tremor and spastic ataxia

• Published in: Neurological sciences Vol. 42; no. 4; pp. 1535 - 1539
• Main Authors: Emekli, Ahmed S., Samanci, Bedia, Şimşir, Gülşah, Hanagasi, Hasmet A., Gürvit, Hakan, Bilgiç, Başar, Başak, A. Nazlı
• Format: Journal Article
• Language: English
• Published: Cham Springer International Publishing 01.04.2021; Springer Nature B.V
• Subjects: Ataxia; Brief Communication; Cerebellum; Differential diagnosis; Dystrophy; Genetic variability; Humans; Hypogonadism; Intellectual Disability; Medicine; Medicine & Public Health; Muscle Spasticity; Mutation; Neurodegenerative diseases; Neurological diseases; Neurology; Neuroradiology; Neurosciences; Neurosurgery; Optic Atrophy; Phospholipases - genetics; Psychiatry; Reflexes; Spasticity; Spinocerebellar Ataxias; Tremor; Tremor - genetics; Holmes tremor; Spastic ataxia; PNPLA6 mutation
• ISSN: 1590-1874; 1590-3478; 1590-3478
• DOI: 10.1007/s10072-020-04869-6

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.