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

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Ahmed S EmekliA Nazlı Başak

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.

References

Jun 14, 2006·Neurology·T Schmitz-HübschRoberto Fancellu
Mar 4, 2008·American Journal of Human Genetics·Shirley RainierJohn K Fink
Dec 21, 2013·Brain : a Journal of Neurology·Matthis SynofzikStephan Züchner
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Mar 21, 2016·The Cerebellum·Sarah WiethoffHenry Houlden
Aug 1, 2016·Chemico-biological Interactions·Miguel A SogorbEugenio Vilanova

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Citations

Feb 25, 2021·Movement Disorders : Official Journal of the Movement Disorder Society·Atay VuralA Nazlı Başak

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