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- W2737179023 abstract "OBJECTIVE: Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN) is a slowly progressive subtype of Neurodegeneration with Brain Iron Accumulation (NBIA) caused by mutations in C19orf12 gene. We report a young patient with initial clinical characteristics of upper and lower motor neuron disease with normal brain MRI.METHODS: We reviewed the relevant retrospective clinical history, neurological examination, electrophysiological (EMG) and neuroimaging tests. The genetic analysis was carried out by targeted next generation exome sequencing of known NBIA genes.RESULTS: The patient appeared healthy until 3 years of age when her gait started to get clumsy and she started falling. Her initial clinical findings included mild lower extremity proximal weakness, spasticity and hyperreflexia suggesting possible spastic paraparesis. Her EMG test showed wide-spread denervation. Her muscle biopsy showed mild neurogenic atrophy and a sural nerve biopsy was not contributory. Initial gene sequencing of ALS2 and SETX genes for juvenile ALS were not informative. Her clinical progression over 5 years included gradual dysarthria, dysphagia, loss of ambulation, dyskinesia and diminished reflexes. Now, she is non-verbal and encephalopathic with pseudobulbar affect. Her brain MRI at 5 years was normal but at 9 years showed iron accumulation in the globus pallidus and substantia nigra. Targeted exome sequencing of NBIA genes showed a novel compound heterozygous mutation in the C19orf12 gene.CONCLUSION: MPAN caused by C19orf12 gene mutation should be considered in young children with clinical signs of upper and lower motor neuron disease or spastic paraplegia. Iron chelation therapy is being considered for this disease. Disclosure: Dr. Acsadi has nothing to disclose. Dr. Ionita has nothing to disclose. Dr. Darras has received personal compensation for activities with UpToDate, Inc., Isis Pharmaceuticals, Inc., and Athena Diagnostics as a consultant." @default.
- W2737179023 created "2017-07-31" @default.
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- W2737179023 date "2016-04-05" @default.
- W2737179023 modified "2023-09-23" @default.
- W2737179023 title "C19orf12 Gene Related Neurodegeneration Mimicking Juvenile ALS (P6.339)" @default.
- W2737179023 hasPublicationYear "2016" @default.
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