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Title of Journal: J Neurol

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Abbravation: Journal of Neurology

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Springer Berlin Heidelberg

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DOI

10.1007/978-3-642-02661-4_3

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1432-1459

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Novel Emphasis Type="Italic"EXOSC3/Emphasis mu

Authors: Ayelet Halevy Israela Lerer Rony Cohen Liora Kornreich Avinoam Shuper Moria Gamliel BatEl Zimerman Isam Korabi Vardiella Meiner Rachel Straussberg Alexander Lossos
Publish Date: 2014/08/23
Volume: 261, Issue: 11, Pages: 2165-2169
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Abstract

We describe two pairs of siblings from a consanguineous family manifesting autosomal recessive hereditary spastic paraplegia caused by a novel mutation in the EXOSC3 gene previously reported in pontocerebellar hypoplasia type 1 Clinical findings included delayed motor milestones earlyonset spastic paraplegia variable cognitive disability and cerebellar signs Cerebral imaging demonstrated enlarged cisterna magna and mild hypoplasia and atrophy of the lower vermis with a normal pons Genetic analysis using homozygosity mapping followed by whole exome sequencing identified homozygous c571GT pG191C mutation in the EXOSC3 gene We suggest that EXOSC3 mutations may present not only as pontocerebellar hypoplasia type 1 but also as a complicated form of hereditary spastic paraplegia without pontine hypoplasia or atrophy

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