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• W2803104850 abstract "Objective: To report AHC involvement by electromyography (EMG) in subjects with SPG11 ARHSPTCC. Background: ARHSPTCC is a heterogeneous disorder caused by mutations in SPG11 which encodes spatacsin, a protein involved in neuronal axonal growth and intracellular trafficking. Mutations in SPG11 also cause juvenile amyotrophic lateral sclerosis type 5 (ALS-5). Clinically ARHSPTCC patients experience cognitive decline, progressive spastic paraparesis, seizures, ataxia, extrapyramidal signs and skeletal deformities. Design/Methods: The patients underwent a clinical examination, laboratory testing including SPG11 genetic studies and MRI of the brain. In addition, a concentric needle EMG and nerve conduction studies were performed according to standard criteria. Results: Nine Saudi subjects with SPG11 ARHSPTCC were identified with a mean age of 27.8 years (20–37). Four were female. Three pairs were siblings. Seven were from a consanguineous union and eight had a family history. All had progressive lower extremity weakness, spasticity and cognitive decline beginning between childhood and 20 years. Four reported speech abnormalities, 2 ataxia, 1 choking attacks, 1 tremor and 1 kyphosis. Brain MRIs revealed thin corpus callosum, diffuse cortical atrophy and periventricular white matter changes. Each family expressed a private spatacsin mutation. EMG demonstrated motor unit remodeling with large amplitude, long duration motor unit action potentials. In some, there was decreased recruitment and a reduction in interference patterns. Rarely positive sharp waves, fibrillation potentials or fasciculation were seen. Motor conduction studies demonstrated low compound motor action potential amplitudes while the sensory conduction studies were normal. The mean creatine kinase level was 477.8 U/l (range 177 to 923 U/l; normal 39–308 U/l). Patients did not meet ALS-5 criteria. Conclusions: Anterior horn cell involvement may occur in patients with typical SPG11 related ARHSPTCC who have progressive spastic paraparesis, cognitive decline and ataxia. SPG11 related ARHSPTCC and ALS-5 may represent a spectrum of a single disorder with our reported cases representing an intermediate phenotype. Disclosure: Dr. Al-Faidi has nothing to disclose. Dr. Ali has nothing to disclose. Dr. Karim has nothing to disclose. Dr. Kurdi has nothing to disclose. Dr. Khan has nothing to disclose. Dr. Wazzan has nothing to disclose. Dr. Al Said has received personal compensation for consulting, serving on a scientific advisory board, speaking, or other activities with Novartis. Dr. Cupler has received personal compensation for consulting, serving on a scientific advisory board, speaking, or other activities with Sanofi; Novartis." @default.
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• W2803104850 date "2018-04-10" @default.
• W2803104850 modified "2023-09-24" @default.
• W2803104850 title "Anterior horn cell (AHC) involvement in autosomal recessive hereditary spastic paraplegia with thin corpus callosum (ARHSPTCC) patients with SPG 11 mutations. (P3.088)" @default.
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