A novel PNPLA6 mutation in a Turkish family with intractable Holmes tremor and spastic ataxia
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A novel PNPLA6 mutation in a Turkish family with intractable Holmes tremor and spastic ataxia Ahmed S. Emekli 1 A. Nazlı Başak 2
& Bedia Samanci
1
& Gülşah Şimşir & Hasmet A. Hanagasi 2
1
& Hakan Gürvit
1
& Başar Bilgiç
1
&
Received: 21 August 2020 / Accepted: 28 October 2020 # Fondazione Società Italiana di Neurologia 2020
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 PNPLA6related 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. Keywords Holmes tremor . PNPLA6 mutation . Spastic ataxia
Introduction Homozygous and compound heterozygous mutations in the patatin-like phospholipase domain containing 6 (PNPLA6) gene were first associated with spastic paraplegia type-39 (SPG39) [1]. Recently, these mutations were suggested to lead to also specific syndromes such as Boucher-Neuhauser syndrome (BNS) or Gordon-Holmes syndrome (GHS) [2, 3]. In addition, various clinical phenotypes linked with PNPLA6 mutations were also reported [4–6]. Here we report three patients from a single family with a novel pathogenic mutation in the PNPLA6 gene which led to Supplementary Information The online version contains supplementary material available at https://doi.org/10.1007/s10072-02004869-6. * Ahmed S. Emekli [email protected] 1
Behavioral Neurology and Movement Disorders Unit, Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, 34093 Istanbul, Turkey
2
Suna and İnan Kıraç Foundation, Neurodegeneration Research Laboratory, KUTTAM, Koç University, School of Medicine, Istanbul, Turkey
predominantly spastic ataxia and intractable Holmes tremor (HT).
Case report The index patient (Subject #1) was referred to our clinic for the treatment of resistant HT. The patient is a 32-year-old woman who was born by vaginal delivery. No obvious developmental delays were detected until the age of one; however, she was reported not being able to walk independently due to frequent falls and unsteady gait. There were no significant cognitive problems in her developmental history. At the age of 20 years, she became wheelchair-bound. She developed a postural-type tremor 5 years later, and resting and kinetic features were added over time. The severe tremor with high amplitude and low frequency wa
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