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Article

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 - 1 Apr 2021

Emekli Ahmed S, Samanci Bedia, Şimşir Gülşah, Hanagasi Hasmet A, Gürvit Hakan, Bilgiç Başar, Başak A Nazlı

Abstract excerpt

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...

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PMID: 33210227
DOI: 10.1007/s10072-020-04869-6

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A novel PNPLA6 mutation in a Turkish family with intractable Holmes tremor and spastic ataxia.PMID 33210227Read ↗

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