C19orf12 mutation leads to a pallido-pyramidal syndrome

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• 作者：Michael C. Kruer ; Mustafa A. Salih ; Catherine Mooney ; Jawahir Alzahrani ; Salah A. Elmalik ; Mohammad M. Kabiraj ; Arif O. Khan ; Reema Paudel ; Henry Houlden ; Hamid Azzedine ; Fowzan Alkuraya
• 关键词：NBIA ; neurodegeneration with brain iron accumulation ; MRI ; magnetic resonance imaging ; MCV ; motor conduction velocity ; SNAP ; sensory nerve action potential ; DML ; distal motor latency ; CMAP ; compound motor action potential ; VEP ; visual evoked potential ; ERG ; electroretinogram ; BAER ; brainstem auditory evoked response ; bp ; base pairs ; Mb ; megabase
• 刊名：Gene
• 出版年：10 March, 2014
• 年：2014
• 卷：537
• 期：2
• 页码：352-356
• 全文大小：915 K

文摘

Pallido-pyramidal syndromes combine dystonia with or without parkinsonism and spasticity as part of a mixed neurodegenerative disorder. Several causative genes have been shown to lead to pallido-pyramidal syndromes, including FBXO7, ATP13A2, PLA2G6, PRKN and SPG11. Among these, ATP13A2 and PLA2G6 are inconsistently associated with brain iron deposition. Using homozygosity mapping and direct sequencing in a multiplex consanguineous Saudi Arabian family with a pallido-pyramidal syndrome, iron deposition and cerebellar atrophy, we identified a homozygous p.G53R mutation in C19orf12. Our findings add to the phenotypic spectrum associated with C19orf12 mutations.