C19orf12 mutation leads to a pallido-pyramidal syndrome
| Autor: | Fowzan S. Alkuraya, Catherine Mooney, Arif O. Khan, Salah A. Elmalik, Henry Houlden, Hamid Azzedine, Michael C. Kruer, Mohammad M. Kabiraj, Mustafa A. Salih, Jawahir Al-Zahrani, Reema Paudel |
|---|---|
| Rok vydání: | 2014 |
| Předmět: |
Male
Adolescent Neurodegeneration with brain iron accumulation Amino Acid Motifs Blepharospasm Saudi Arabia Neurogenetics Consanguinity Biology Globus Pallidus medicine.disease_cause Article Mitochondrial Proteins Young Adult Genetics medicine Humans Computer Simulation Parkinson Disease Secondary Dystonia Mutation Parkinsonism Homozygote food and beverages General Medicine Disease gene identification medicine.disease Blepharospasm/etiology Blepharospasm/genetics Female Mitochondrial Proteins/genetics Mitochondrial Proteins/metabolism Parkinson Disease Secondary/etiology Parkinson Disease Secondary/genetics Pedigree nervous system diseases Cerebellar atrophy |
| Zdroj: | Gene, vol. 537, no. 2, pp. 352-356 |
| ISSN: | 0378-1119 |
| DOI: | 10.1016/j.gene.2013.11.039 |
| Popis: | 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. In particular, mutations in PLA2G6 have been identified in patients with Karak syndrome, a neurodegenerative disorder that features ataxia, dystonia-parkinsonism, dementia and spasticity with neuroradiologic evidence of cerebellar atrophy and/or brain iron deposition. Some patients with phenotypic Karak syndrome do not have demonstrable mutations in PLA2G6. Using homozygosity mapping and direct sequencing in a multiplex consanguineous Saudi Arabian family with Karak syndrome, we identified a homozygous p.G53R mutation in C19orf12. Our findings expand the phenotypic spectrum associated with C19orf12 mutations. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full Text from ScienceDirect