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

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 Go...

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Veröffentlicht in:Neurological sciences 2021-04, Vol.42 (4), p.1535-1539
Hauptverfasser: Emekli, Ahmed S., Samanci, Bedia, Şimşir, Gülşah, Hanagasi, Hasmet A., Gürvit, Hakan, Bilgiç, Başar, Başak, A. Nazlı
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container_end_page 1539
container_issue 4
container_start_page 1535
container_title Neurological sciences
container_volume 42
creator Emekli, Ahmed S.
Samanci, Bedia
Şimşir, Gülşah
Hanagasi, Hasmet A.
Gürvit, Hakan
Bilgiç, Başar
Başak, A. Nazlı
description 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.
doi_str_mv 10.1007/s10072-020-04869-6
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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
title A novel PNPLA6 mutation in a Turkish family with intractable Holmes tremor and spastic ataxia
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